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    ZNF624 zinc finger protein 624 [ Homo sapiens (human) ]

    Gene ID: 57547, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ZNF624provided by HGNC
    Official Full Name
    zinc finger protein 624provided by HGNC
    Primary source
    HGNC:HGNC:29254
    See related
    Ensembl:ENSG00000197566 AllianceGenome:HGNC:29254
    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
    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. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 2.9), ovary (RPKM 1.2) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF624 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16614247..16653850, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16516506..16556066, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16524048..16557164, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11768 Neighboring gene uncharacterized LOC105371554 Neighboring gene zinc finger protein 287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16471581-16472082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16472083-16472582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11769 Neighboring gene SRSF6 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:16556408-16556918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8228 Neighboring gene uncharacterized LOC124903934 Neighboring gene coiled-coil domain containing 144A Neighboring gene NIMA-related kinase 4 pseudogene 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. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198
    2. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
    3. A Large-scale genetic association study of esophageal adenocarcinoma risk. Liu CY, et al. Carcinogenesis, 2010 Jul. PMID 20453000, Free PMC Article
    4. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
    5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1349, MGC119602, MGC119603, MGC119605

    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 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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II 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
    		  

    General protein information

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    Preferred Names
    zinc finger protein 624

    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_020787.4 → NP_065838.2  zinc finger protein 624

      See identical proteins and their annotated locations for NP_065838.2

      Status: VALIDATED

      Source sequence(s)
      BC103943, BF435259, DA808501
      Consensus CDS
      CCDS11180.1
      UniProtKB/Swiss-Prot
      Q3SY62, Q3SY63, Q6ZN27, Q9P2J8
      Related
      ENSP00000310472.7, ENST00000311331.12
      Conserved Domains (4) summary
      smart00349
      Location:54 → 114
      KRAB; krueppel associated box
      COG5048
      Location:414 → 826
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:502 → 522
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:826 → 847
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      16614247..16653850 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436461.1 → XP_047292417.1  zinc finger protein 624 isoform X3

      Related
      ENSP00000463295.1, ENST00000583766.5

    2. XM_011523970.3 → XP_011522272.1  zinc finger protein 624 isoform X2

      Conserved Domains (6) summary
      smart00349
      Location:52 → 112
      KRAB; krueppel associated box
      COG5048
      Location:412 → 824
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:500 → 520
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:386 → 408
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:52 → 91
      KRAB; KRAB box
      pfam13465
      Location:344 → 369
      zf-H2C2_2; Zinc-finger double domain

    3. XM_047436460.1 → XP_047292416.1  zinc finger protein 624 isoform X2

    4. XM_006721562.5 → XP_006721625.1  zinc finger protein 624 isoform X1

      See identical proteins and their annotated locations for XP_006721625.1

      UniProtKB/Swiss-Prot
      Q3SY62, Q3SY63, Q6ZN27, Q9P2J8
      Conserved Domains (4) summary
      smart00349
      Location:54 → 114
      KRAB; krueppel associated box
      COG5048
      Location:414 → 826
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:502 → 522
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:826 → 847
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      16516506..16556066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316750.1 → XP_054172725.1  zinc finger protein 624 isoform X3

    2. XM_054316748.1 → XP_054172723.1  zinc finger protein 624 isoform X2

    3. XM_054316747.1 → XP_054172722.1  zinc finger protein 624 isoform X1

    4. XM_054316749.1 → XP_054172724.1  zinc finger protein 624 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2J8.3 GenPept UniProtKB/Swiss-Prot:Q9P2J8

    Gene LinkOut

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

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