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    ZNF74 zinc finger protein 74 [ Homo sapiens (human) ]

    Gene ID: 7625, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF74provided by HGNC
    Official Full Name
    zinc finger protein 74provided by HGNC
    Primary source
    HGNC:HGNC:13144
    See related
    Ensembl:ENSG00000185252 MIM:194548; AllianceGenome:HGNC:13144
    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
    COS52; hZNF7; ZFP520; ZNF520
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in actin cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 2.9), endometrium (RPKM 2.2) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF74 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20394151..20408455)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20798473..20812756)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20748441..20762745)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905153 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20708428-20708649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20715037-20715538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20715539-20716038 Neighboring gene ubiquitin specific peptidase 41, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62637 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20747551-20748540 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62654 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62657 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20764690-20764912 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62670 Neighboring gene RNA, U6 small nuclear 225, pseudogene Neighboring gene VISTA enhancer hs1620 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20783264-20783430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20784487-20785326 Neighboring gene scavenger receptor class F member 2

    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. Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Aubry M, et al. Hum Mol Genet, 1993 Oct. PMID 8268910
    2. The KRAB zinc finger gene ZNF74 encodes an RNA-binding protein tightly associated with the nuclear matrix. Grondin B, et al. J Biol Chem, 1996 Jun 28. PMID 8663113
    3. ZNF74, a gene deleted in DiGeorge syndrome, is expressed in human neural crest-derived tissues and foregut endoderm epithelia. Ravassard P, et al. Genomics, 1999 Nov 15. PMID 10585771
    4. Direct interaction of the KRAB/Cys2-His2 zinc finger protein ZNF74 with a hyperphosphorylated form of the RNA polymerase II largest subunit. Grondin B, et al. J Biol Chem, 1997 Oct 31. PMID 9346935
    5. Alternative promoter usage and splicing of ZNF74 multifinger gene produce protein isoforms with a different repressor activity and nuclear partitioning. Côté F, et al. DNA Cell Biol, 2001 Mar. PMID 11313019

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of ZNF74 gene genotypes with age-at-onset of schizophrenia.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 74
    Names
    zinc finger protein 520

    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_001256523.2 → NP_001243452.1  zinc finger protein 74 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, resulting in a frameshift in the remaining coding region, compared to variant 1. The encoded isoform (b) shares the same N-terminus but is otherwise distinct and shorter, compared to isoform a.
      Source sequence(s)
      AC007731, BC013395, BC013741, BG912037, DA791304
      Consensus CDS
      CCDS58794.1
      UniProtKB/Swiss-Prot
      Q16587
      Related
      ENSP00000384750.3, ENST00000403682.7

    2. NM_001256524.2 → NP_001243453.1  zinc finger protein 74 isoform a

      See identical proteins and their annotated locations for NP_001243453.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate segment in the 5' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (a).
      Source sequence(s)
      AC007731, AK291358, BC013395, BC056902, BG912037, DA791304
      Consensus CDS
      CCDS42982.1
      UniProtKB/Swiss-Prot
      B5MCE3, B7Z5Y2, Q16587, Q6IBV2, Q6PJP1, Q9UC04, Q9UF05, Q9UF06, Q9UF07
      UniProtKB/TrEMBL
      A8K5P3
      Related
      ENSP00000483077.1, ENST00000611540.4
      Conserved Domains (4) summary
      smart00349
      Location:43 → 103
      KRAB; krueppel associated box
      COG5048
      Location:331 → 511
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:306 → 326
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:514 → 539
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001256525.2 → NP_001243454.1  zinc finger protein 74 isoform c

      See identical proteins and their annotated locations for NP_001243454.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AC007731, BC013395, BC048295, BG912037, DA791304
      UniProtKB/TrEMBL
      Q05BG0
      Conserved Domains (4) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:260 → 440
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:235 → 255
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:387 → 412
      zf-H2C2_2; Zinc-finger double domain

    4. NM_003426.4 → NP_003417.2  zinc finger protein 74 isoform a

      See identical proteins and their annotated locations for NP_003417.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Both variants 1 and 3 encode isoform a.
      Source sequence(s)
      AC007731, BC013395, BC056902, BG912037, DA791304
      Consensus CDS
      CCDS42982.1
      UniProtKB/Swiss-Prot
      B5MCE3, B7Z5Y2, Q16587, Q6IBV2, Q6PJP1, Q9UC04, Q9UF05, Q9UF06, Q9UF07
      UniProtKB/TrEMBL
      A8K5P3
      Related
      ENSP00000383301.2, ENST00000400451.7
      Conserved Domains (4) summary
      smart00349
      Location:43 → 103
      KRAB; krueppel associated box
      COG5048
      Location:331 → 511
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:306 → 326
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:514 → 539
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_046282.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB209663, AC007731, BC013395, BG912037, DA791304
      Related
      ENST00000437275.5

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      20394151..20408455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      20798473..20812756
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16587.3 GenPept UniProtKB/Swiss-Prot:Q16587

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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