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    ZNF629 zinc finger protein 629 [ Homo sapiens (human) ]

    Gene ID: 23361, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF629provided by HGNC
    Official Full Name
    zinc finger protein 629provided by HGNC
    Primary source
    HGNC:HGNC:29008
    See related
    Ensembl:ENSG00000102870 MIM:619587; AllianceGenome:HGNC:29008
    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
    ZNF; ZNF65
    Summary
    Predicted to enable DNA-binding transcription activator 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, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 5.1), brain (RPKM 4.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ZNF629 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30778456..30787205, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31165899..31174664, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30789777..30798526, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:30771308-30772507 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30772706-30772935 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30773347-30773984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10724 Neighboring gene phosphorylase kinase catalytic subunit gamma 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30775098-30775598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30775599-30776099 Neighboring gene cilia and flagella associated protein 119 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30780568-30780764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30785886-30786564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30786565-30787241 Neighboring gene ring finger protein 40 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10728 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30807171-30807374 Neighboring gene uncharacterized LOC124903679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30824465-30825020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30825021-30825575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7396 Neighboring gene adipose secreted signaling protein pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10731 Neighboring gene BAF chromatin remodeling complex subunit BCL7C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30885309-30886064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30886065-30886819 Neighboring gene microRNA 4519

    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 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. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. Lichter P, et al. Genomics, 1992 Aug. PMID 1505991
    2. Characterization and mapping of human genes encoding zinc finger proteins. Bray P, et al. Proc Natl Acad Sci U S A, 1991 Nov 1. PMID 1946370, Free PMC Article
    3. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Cousminer DL, et al. Hum Mol Genet, 2013 Jul 1. PMID 23449627, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1997 Apr 28. PMID 9205841
    5. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article

    See all (47) 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
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    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)

    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

    • KIAA0326

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator 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 positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 629
    Names
    DNA-binding protein
    zinc finger protein 65

    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_001080417.3 → NP_001073886.1  zinc finger protein 629 isoform 1

      See identical proteins and their annotated locations for NP_001073886.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC106886
      Consensus CDS
      CCDS45463.1
      UniProtKB/Swiss-Prot
      Q15938, Q9UEG4
      Related
      ENSP00000262525.4, ENST00000262525.6
      Conserved Domains (4) summary
      COG5048
      Location:146 → 521
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:180 → 200
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:402 → 424
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:472 → 497
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001345970.2 → NP_001332899.1  zinc finger protein 629 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC106886
      UniProtKB/Swiss-Prot
      Q9UEG4

    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
      30778456..30787205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31165899..31174664 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UEG4.2 GenPept UniProtKB/Swiss-Prot:Q9UEG4

    Gene LinkOut

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

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