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    GATAD2A GATA zinc finger domain containing 2A [ Homo sapiens (human) ]

    Gene ID: 54815, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GATAD2Aprovided by HGNC
    Official Full Name
    GATA zinc finger domain containing 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:29989
    See related
    Ensembl:ENSG00000167491 MIM:614997; AllianceGenome:HGNC:29989
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p66alpha
    Summary
    Enables protein-macromolecule adaptor activity. Involved in chromatin remodeling and negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of NuRD complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 18.1), spleen (RPKM 10.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GATAD2A in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19385843..19508932)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19523327..19646416)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19496652..19619741)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SURP and G-patch domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14344 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19431454-19432425 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:19446492-19447691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19447717-19448218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19452846-19453354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10437 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10438 Neighboring gene MAU2 sister chromatid cohesion factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19459741-19460241 Neighboring gene uncharacterized LOC124904656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14348 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:19481673-19482872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19489171-19489816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19505798-19506651 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:19515640-19516548 and GRCh37_chr19:19516549-19517455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19538881-19539384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19546839-19547444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19563343-19563843 Neighboring gene microRNA 640 Neighboring gene Sharpr-MPRA regulatory region 5941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19573083-19573864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19583474-19584166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19584167-19584858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19585552-19586243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19593349-19593956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19595063-19595847 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:19599635-19600834 Neighboring gene Sharpr-MPRA regulatory region 10818/8147 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:19602420-19603619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19615802-19616302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19635662-19636637 Neighboring gene Sharpr-MPRA regulatory region 9511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19638979-19639479 Neighboring gene NADH:ubiquinone oxidoreductase subunit A13 Neighboring gene testis specific serine kinase 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A shared genetic contribution to breast cancer and schizophrenia. Lu D, et al. Nat Commun, 2020 Sep 15. PMID 32934226, Free PMC Article
    2. De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder. Werren EA, et al. HGG Adv, 2023 Jul 13. PMID 37181331, Free PMC Article
    3. Circular RNA GATAD2A promotes H1N1 replication through inhibiting autophagy. Yu T, et al. Vet Microbiol, 2019 Apr. PMID 30955816
    4. Knockdown of GATAD2A suppresses cell proliferation in thyroid cancer in vitro. Wang Z, et al. Oncol Rep, 2017 Apr. PMID 28260108
    5. Hsa_circ_0058124 promotes papillary thyroid cancer tumorigenesis and invasiveness through the NOTCH3/GATAD2A axis. Yao Y, et al. J Exp Clin Cancer Res, 2019 Jul 19. PMID 31324198, Free PMC Article

    See all (140) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
      Title: De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
    2. lncKRT16P6 promotes tongue squamous cell carcinoma progression by sponging miR3180 and regulating GATAD2A expression.
      Title: lncKRT16P6 promotes tongue squamous cell carcinoma progression by sponging miR‑3180 and regulating GATAD2A expression.
    3. p66alpha Suppresses Breast Cancer Cell Growth and Migration by Acting as Co-Activator of p53.
      Title: p66α Suppresses Breast Cancer Cell Growth and Migration by Acting as Co-Activator of p53.
    4. Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.
      Title: Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.
    5. GATA zinc finger domain-containing protein 2A (GATAD2A) deficiency reactivates fetal haemoglobin in patients with beta-thalassaemia through impaired formation of methyl-binding domain protein 2 (MBD2)-containing nucleosome remodelling and deacetylation (NuRD) complex.
      Title: GATA zinc finger domain-containing protein 2A (GATAD2A) deficiency reactivates fetal haemoglobin in patients with β-thalassaemia through impaired formation of methyl-binding domain protein 2 (MBD2)-containing nucleosome remodelling and deacetylation (NuRD) complex.
    6. A shared genetic contribution to breast cancer and schizophrenia.
      Title: A shared genetic contribution to breast cancer and schizophrenia.
    7. This study unveils a novel biomarker panel consisting of the hsa_circ_0058124/NOTCH3/GATAD2A axis which is critical for papillary thyroid cancer (PTC) tumorigenesis and invasiveness and may represent a novel therapeutic target for intervening in PTC progression.
      Title: Hsa_circ_0058124 promotes papillary thyroid cancer tumorigenesis and invasiveness through the NOTCH3/GATAD2A axis.
    8. circ-GATAD2A promotes the replication of H1N1 by inhibiting autophagy.
      Title: Circular RNA GATAD2A promotes H1N1 replication through inhibiting autophagy.
    9. The MYND domain of ZMYND8 directly interacts with PPPLPhi motifs in the NuRD subunit GATAD2A.
      Title: ZMYND8 Co-localizes with NuRD on Target Genes and Regulates Poly(ADP-Ribose)-Dependent Recruitment of GATAD2A/NuRD to Sites of DNA Damage.
    10. Results showed that suppression of GATAD2A attenuated thyroid cancer cell proliferation and colony formation and promoted apoptosis suggesting it as an essential factor in thyroid cancer cell pathogenesis.
      Title: Knockdown of GATAD2A suppresses cell proliferation in thyroid cancer in vitro.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of GATA zinc finger domain containing 2A (GATAD2A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Methyl-CpG-binding proteins MBD2 and p66alpha are identified to interact with HIV-1 Tat in Jurkat cell PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20085, FLJ21017

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell fate specification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of stem cell differentiation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of NuRD complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of NuRD complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of NuRD complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcriptional repressor p66-alpha
    Names
    GATA zinc finger domain-containing protein 2A

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001300946.3 → NP_001287875.1  transcriptional repressor p66-alpha isoform 1

      See identical proteins and their annotated locations for NP_001287875.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    2. NM_001359631.2 → NP_001346560.1  transcriptional repressor p66-alpha isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes isoform 3. Variants 3 and 26-28 all encode the same isoform (3).
      Source sequence(s)
      AC003030, AC011448
      Conserved Domains (2) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2

    3. NM_001384511.1 → NP_001371440.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    4. NM_001384512.1 → NP_001371441.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, AC092067, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    5. NM_001384513.1 → NP_001371442.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    6. NM_001384514.1 → NP_001371443.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, AC092067, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    7. NM_001384515.1 → NP_001371444.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    8. NM_001384516.1 → NP_001371445.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    9. NM_001384517.1 → NP_001371446.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, AC092067
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    10. NM_001384518.1 → NP_001371447.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    11. NM_001384519.1 → NP_001371448.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    12. NM_001384521.1 → NP_001371450.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    13. NM_001384522.1 → NP_001371451.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    14. NM_001384523.1 → NP_001371452.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC003030, AC011448, AC092067, KC877710
      Consensus CDS
      CCDS77270.1
      Related
      ENSP00000384899.2, ENST00000404158.5
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    15. NM_001384524.1 → NP_001371453.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC011448, AC092067, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    16. NM_001384525.1 → NP_001371454.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC011448, AC092067, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    17. NM_001384526.1 → NP_001371455.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC011448, AC092067, KC877710
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    18. NM_001384527.1 → NP_001371456.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC011448, AC092067
      Consensus CDS
      CCDS77270.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    19. NM_001384528.1 → NP_001371457.1  transcriptional repressor p66-alpha isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20) differs in the 5' UTR compared to variant 1. Variants 1 and 4-20 all encode the same isoform (1).
      Source sequence(s)
      AC011448, AC092067
      Consensus CDS
      CCDS77270.1
      Related
      ENSP00000508398.1, ENST00000683918.1
      Conserved Domains (3) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:514 → 621
      ser_rich_anae_1; serine-rich protein

    20. NM_001384529.1 → NP_001371458.1  transcriptional repressor p66-alpha isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21) differs in the 5' UTR compared to variant 2. Variants 2 and 21-25 all encode the same isoform (2).
      Source sequence(s)
      AC003030, AC011448
      Consensus CDS
      CCDS12402.2
      UniProtKB/Swiss-Prot
      B5MC40, Q7L3J2, Q86YP4, Q96F28, Q9NPU2, Q9NXS1
      Conserved Domains (3) summary
      pfam00320
      Location:417 → 451
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:513 → 620
      ser_rich_anae_1; serine-rich protein

    21. NM_001384530.1 → NP_001371459.1  transcriptional repressor p66-alpha isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22) differs in the 5' UTR compared to variant 2. Variants 2 and 21-25 all encode the same isoform (2).
      Source sequence(s)
      AC003030, AC011448
      Consensus CDS
      CCDS12402.2
      UniProtKB/Swiss-Prot
      B5MC40, Q7L3J2, Q86YP4, Q96F28, Q9NPU2, Q9NXS1
      Conserved Domains (3) summary
      pfam00320
      Location:417 → 451
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:513 → 620
      ser_rich_anae_1; serine-rich protein

    22. NM_001384531.1 → NP_001371460.1  transcriptional repressor p66-alpha isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23) differs in the 5' UTR compared to variant 2. Variants 2 and 21-25 all encode the same isoform (2).
      Source sequence(s)
      AC003030, AC011448, KC877710
      Consensus CDS
      CCDS12402.2
      UniProtKB/Swiss-Prot
      B5MC40, Q7L3J2, Q86YP4, Q96F28, Q9NPU2, Q9NXS1
      Conserved Domains (3) summary
      pfam00320
      Location:417 → 451
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:513 → 620
      ser_rich_anae_1; serine-rich protein

    23. NM_001384532.1 → NP_001371461.1  transcriptional repressor p66-alpha isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (24) differs in the 5' UTR compared to variant 2. Variants 2 and 21-25 all encode the same isoform (2).
      Source sequence(s)
      AC011448, AC092067
      Consensus CDS
      CCDS12402.2
      UniProtKB/Swiss-Prot
      B5MC40, Q7L3J2, Q86YP4, Q96F28, Q9NPU2, Q9NXS1
      Conserved Domains (3) summary
      pfam00320
      Location:417 → 451
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:513 → 620
      ser_rich_anae_1; serine-rich protein

    24. NM_001384533.1 → NP_001371462.1  transcriptional repressor p66-alpha isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25) differs in the 5' UTR compared to variant 2. Variants 2 and 21-25 all encode the same isoform (2).
      Source sequence(s)
      AC011448, AC092067, KC877710
      Consensus CDS
      CCDS12402.2
      UniProtKB/Swiss-Prot
      B5MC40, Q7L3J2, Q86YP4, Q96F28, Q9NPU2, Q9NXS1
      Conserved Domains (3) summary
      pfam00320
      Location:417 → 451
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:513 → 620
      ser_rich_anae_1; serine-rich protein

    25. NM_001384534.1 → NP_001371463.1  transcriptional repressor p66-alpha isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (26) differs in the 5' UTR compared to variant 3. Variants 3 and 26-28 all encode the same isoform (3).
      Source sequence(s)
      AC003030, AC011448, AC092067
      Conserved Domains (2) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2

    26. NM_001384535.1 → NP_001371464.1  transcriptional repressor p66-alpha isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27) differs in the 5' UTR compared to variant 3. Variants 3 and 26-28 all encode the same isoform (3).
      Source sequence(s)
      AC003030, AC011448
      Conserved Domains (2) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2

    27. NM_001384536.1 → NP_001371465.1  transcriptional repressor p66-alpha isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (28) differs in the 5' UTR compared to variant 3. Variants 3 and 26-28 all encode the same isoform (3).
      Source sequence(s)
      AC011448, AC092067
      Conserved Domains (2) summary
      pfam00320
      Location:418 → 452
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2

    28. NM_001384537.1 → NP_001371466.1  transcriptional repressor p66-alpha isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (29) encodes the longest isoform (4).
      Source sequence(s)
      AC003030, AC011448
      Conserved Domains (3) summary
      pfam00320
      Location:469 → 503
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:565 → 672
      ser_rich_anae_1; serine-rich protein

    29. NM_001384538.1 → NP_001371467.1  transcriptional repressor p66-alpha isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC003030, AC011448
      Conserved Domains (2) summary
      pfam00320
      Location:417 → 451
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2

    30. NM_001384539.1 → NP_001371468.1  transcriptional repressor p66-alpha isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC003030, AC011448
      Conserved Domains (3) summary
      pfam00320
      Location:388 → 422
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:484 → 591
      ser_rich_anae_1; serine-rich protein

    31. NM_001384540.1 → NP_001371469.1  transcriptional repressor p66-alpha isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (32), as well as variant 33, encodes isoform 7.
      Source sequence(s)
      AC003030, AC011448
      UniProtKB/TrEMBL
      B4DKZ7
      Conserved Domains (3) summary
      pfam00320
      Location:275 → 309
      GATA; GATA zinc finger
      pfam16563
      Location:1 → 30
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:371 → 478
      ser_rich_anae_1; serine-rich protein

    32. NM_001384541.1 → NP_001371470.1  transcriptional repressor p66-alpha isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (33), as well as variant 32, encodes isoform 7.
      Source sequence(s)
      AC003030, AC011448
      UniProtKB/TrEMBL
      B4DKZ7
      Conserved Domains (3) summary
      pfam00320
      Location:275 → 309
      GATA; GATA zinc finger
      pfam16563
      Location:1 → 30
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:371 → 478
      ser_rich_anae_1; serine-rich protein

    33. NM_017660.5 → NP_060130.3  transcriptional repressor p66-alpha isoform 2

      See identical proteins and their annotated locations for NP_060130.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1. Variants 2 and 21-25 all encode the same isoform (2).
      Source sequence(s)
      AC003030, AC011448
      Consensus CDS
      CCDS12402.2
      UniProtKB/Swiss-Prot
      B5MC40, Q7L3J2, Q86YP4, Q96F28, Q9NPU2, Q9NXS1
      Related
      ENSP00000353463.3, ENST00000360315.7
      Conserved Domains (3) summary
      pfam00320
      Location:417 → 451
      GATA; GATA zinc finger
      pfam16563
      Location:137 → 173
      P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
      NF033849
      Location:513 → 620
      ser_rich_anae_1; serine-rich protein

    RNA

    1. NR_169268.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC003030, AC011448

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      19385843..19508932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439009.1 → XP_047294965.1  transcriptional repressor p66-alpha isoform X6

    2. XM_047439000.1 → XP_047294956.1  transcriptional repressor p66-alpha isoform X3

    3. XM_047439002.1 → XP_047294958.1  transcriptional repressor p66-alpha isoform X5

    4. XM_047439006.1 → XP_047294962.1  transcriptional repressor p66-alpha isoform X5

    5. XM_047438999.1 → XP_047294955.1  transcriptional repressor p66-alpha isoform X2

    6. XM_047439003.1 → XP_047294959.1  transcriptional repressor p66-alpha isoform X5

    7. XM_047439005.1 → XP_047294961.1  transcriptional repressor p66-alpha isoform X5

    8. XM_047439007.1 → XP_047294963.1  transcriptional repressor p66-alpha isoform X5

    9. XM_047439001.1 → XP_047294957.1  transcriptional repressor p66-alpha isoform X4

    10. XM_047438998.1 → XP_047294954.1  transcriptional repressor p66-alpha isoform X1

    11. XM_047439004.1 → XP_047294960.1  transcriptional repressor p66-alpha isoform X5

    12. XM_047439010.1 → XP_047294966.1  transcriptional repressor p66-alpha isoform X7

      UniProtKB/TrEMBL
      B4DKZ7

    13. XM_047439011.1 → XP_047294967.1  transcriptional repressor p66-alpha isoform X7

      UniProtKB/TrEMBL
      B4DKZ7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19523327..19646416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321323.1 → XP_054177298.1  transcriptional repressor p66-alpha isoform X6

    2. XM_054321314.1 → XP_054177289.1  transcriptional repressor p66-alpha isoform X3

    3. XM_054321318.1 → XP_054177293.1  transcriptional repressor p66-alpha isoform X5

    4. XM_054321321.1 → XP_054177296.1  transcriptional repressor p66-alpha isoform X5

    5. XM_054321320.1 → XP_054177295.1  transcriptional repressor p66-alpha isoform X5

    6. XM_054321322.1 → XP_054177297.1  transcriptional repressor p66-alpha isoform X5

    7. XM_054321313.1 → XP_054177288.1  transcriptional repressor p66-alpha isoform X2

    8. XM_054321317.1 → XP_054177292.1  transcriptional repressor p66-alpha isoform X4

    9. XM_054321312.1 → XP_054177287.1  transcriptional repressor p66-alpha isoform X1

    10. XM_054321326.1 → XP_054177301.1  transcriptional repressor p66-alpha isoform X11

    11. XM_054321315.1 → XP_054177290.1  transcriptional repressor p66-alpha isoform X9

    12. XM_054321311.1 → XP_054177286.1  transcriptional repressor p66-alpha isoform X8

      UniProtKB/Swiss-Prot
      B5MC40, Q7L3J2, Q86YP4, Q96F28, Q9NPU2, Q9NXS1

    13. XM_054321316.1 → XP_054177291.1  transcriptional repressor p66-alpha isoform X10

    14. XM_054321319.1 → XP_054177294.1  transcriptional repressor p66-alpha isoform X5

    15. XM_054321324.1 → XP_054177299.1  transcriptional repressor p66-alpha isoform X7

      UniProtKB/TrEMBL
      B4DKZ7

    16. XM_054321325.1 → XP_054177300.1  transcriptional repressor p66-alpha isoform X7

      UniProtKB/TrEMBL
      B4DKZ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YP4.1 GenPept UniProtKB/Swiss-Prot:Q86YP4

    Gene LinkOut

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