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    ATF7IP2 activating transcription factor 7 interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 80063, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ATF7IP2provided by HGNC
    Official Full Name
    activating transcription factor 7 interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:20397
    See related
    Ensembl:ENSG00000166669 MIM:613645; AllianceGenome:HGNC:20397
    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
    MCAF2
    Summary
    Predicted to enable transcription coregulator activity. Predicted to be involved in positive regulation of DNA methylation-dependent heterochromatin formation and regulation of DNA-templated transcription. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 6.9), lymph node (RPKM 2.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATF7IP2 in Genome Data Viewer
    Location:
    16p13.2-p13.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (10386061..10483638)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (10421735..10519259)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (10479918..10577495)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371078 Neighboring gene VISTA enhancer hs1242 Neighboring gene RNA, 7SL, cytoplasmic 493, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10378 Neighboring gene MPRA-validated peak2497 silencer Neighboring gene CRISPRi-validated cis-regulatory element chr16.1137 Neighboring gene Sharpr-MPRA regulatory region 5183 Neighboring gene MPRA-validated peak2499 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7192 Neighboring gene uncharacterized LOC107984877 Neighboring gene CRISPRi-validated cis-regulatory element chr16.1145 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:10597803-10598610 Neighboring gene RNA, U6 small nuclear 633, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10380 Neighboring gene long intergenic non-protein coding RNA 1290

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Transcriptional repression and heterochromatin formation by MBD1 and MCAF/AM family proteins. Ichimura T, et al. J Biol Chem, 2005 Apr 8. PMID 15691849
    2. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. Adkins DE, et al. Mol Psychiatry, 2011 Mar. PMID 20195266, Free PMC Article
    3. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    4. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article
    5. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12668

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    activating transcription factor 7-interacting protein 2
    Names
    ATF7-interacting protein 2
    MBD1-containing chromatin associated factor 2

    NCBI Reference Sequences (RefSeq)

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    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_001256160.3 → NP_001243089.1  activating transcription factor 7-interacting protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001243089.1

      Status: VALIDATED

      Source sequence(s)
      AC131649, AK093414, AL832987, BC144468
      Consensus CDS
      CCDS58422.1
      UniProtKB/Swiss-Prot
      Q5U623
      Related
      ENSP00000379807.1, ENST00000396559.5
      Conserved Domains (1) summary
      pfam16788
      Location:291 → 496
      ATF7IP_BD; ATF-interacting protein binding domain

    2. NM_001352120.2 → NP_001339049.1  activating transcription factor 7-interacting protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC131649
      Consensus CDS
      CCDS10540.1
      UniProtKB/Swiss-Prot
      B2RNR2, Q53EZ7, Q5U623, Q658U2, Q6IS97, Q8N9X8, Q9H9L6
      Conserved Domains (2) summary
      pfam16788
      Location:292 → 496
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:574 → 673
      fn3_4; Fibronectin-III type domain

    3. NM_001393719.1 → NP_001380648.1  activating transcription factor 7-interacting protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC131649
      Consensus CDS
      CCDS10540.1
      UniProtKB/Swiss-Prot
      B2RNR2, Q53EZ7, Q5U623, Q658U2, Q6IS97, Q8N9X8, Q9H9L6
      Related
      ENSP00000457731.2, ENST00000562102.6
      Conserved Domains (2) summary
      pfam16788
      Location:292 → 496
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:574 → 673
      fn3_4; Fibronectin-III type domain

    4. NM_024997.5 → NP_079273.2  activating transcription factor 7-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_079273.2

      Status: VALIDATED

      Source sequence(s)
      AC131649, AL832987, BC033891, BC137079
      Consensus CDS
      CCDS10540.1
      UniProtKB/Swiss-Prot
      B2RNR2, Q53EZ7, Q5U623, Q658U2, Q6IS97, Q8N9X8, Q9H9L6
      Related
      ENSP00000379808.2, ENST00000396560.6
      Conserved Domains (2) summary
      pfam16788
      Location:292 → 496
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:574 → 673
      fn3_4; Fibronectin-III type domain

    RNA

    1. NR_045815.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC131649
      Related
      ENST00000568027.5

    2. NR_045816.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC131649, AK299040, AL832987, BC144468

    3. NR_147927.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC131649

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      10386061..10483638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434683.1 → XP_047290639.1  activating transcription factor 7-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RNR2, Q53EZ7, Q5U623, Q658U2, Q6IS97, Q8N9X8, Q9H9L6

    2. XM_047434684.1 → XP_047290640.1  activating transcription factor 7-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RNR2, Q53EZ7, Q5U623, Q658U2, Q6IS97, Q8N9X8, Q9H9L6

    3. XM_017023707.3 → XP_016879196.1  activating transcription factor 7-interacting protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BPC9
      Related
      ENSP00000440791.1, ENST00000535850.5

    4. XM_006720954.5 → XP_006721017.1  activating transcription factor 7-interacting protein 2 isoform X5

      UniProtKB/TrEMBL
      H3BPC9
      Conserved Domains (1) summary
      pfam16788
      Location:291 → 366
      ATF7IP_BD; ATF-interacting protein binding domain

    5. XM_006720953.4 → XP_006721016.1  activating transcription factor 7-interacting protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006721016.1

      UniProtKB/Swiss-Prot
      B2RNR2, Q53EZ7, Q5U623, Q658U2, Q6IS97, Q8N9X8, Q9H9L6
      Related
      ENSP00000348799.2, ENST00000356427.2
      Conserved Domains (2) summary
      pfam16788
      Location:292 → 496
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:574 → 673
      fn3_4; Fibronectin-III type domain

    6. XM_047434685.1 → XP_047290641.1  activating transcription factor 7-interacting protein 2 isoform X2

      Related
      ENSP00000322811.5, ENST00000324570.9

    7. XM_017023708.2 → XP_016879197.1  activating transcription factor 7-interacting protein 2 isoform X4

    8. XM_011522666.3 → XP_011520968.1  activating transcription factor 7-interacting protein 2 isoform X6

      Conserved Domains (2) summary
      pfam16788
      Location:7 → 108
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:186 → 285
      fn3_4; Fibronectin-III type domain

    RNA

    1. XR_007064920.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      10421735..10519259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313990.1 → XP_054169965.1  activating transcription factor 7-interacting protein 2 isoform X1

    2. XM_054313991.1 → XP_054169966.1  activating transcription factor 7-interacting protein 2 isoform X1

    3. XM_054313994.1 → XP_054169969.1  activating transcription factor 7-interacting protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BPC9

    4. XM_054313996.1 → XP_054169971.1  activating transcription factor 7-interacting protein 2 isoform X5

      UniProtKB/TrEMBL
      H3BPC9

    5. XM_054313992.1 → XP_054169967.1  activating transcription factor 7-interacting protein 2 isoform X1

    6. XM_054313993.1 → XP_054169968.1  activating transcription factor 7-interacting protein 2 isoform X2

    7. XM_054313995.1 → XP_054169970.1  activating transcription factor 7-interacting protein 2 isoform X4

    8. XM_054313997.1 → XP_054169972.1  activating transcription factor 7-interacting protein 2 isoform X6

    RNA

    1. XR_008484739.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U623.2 GenPept UniProtKB/Swiss-Prot:Q5U623

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