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    ZNF646 zinc finger protein 646 [ Homo sapiens (human) ]

    Gene ID: 9726, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF646provided by HGNC
    Official Full Name
    zinc finger protein 646provided by HGNC
    Primary source
    HGNC:HGNC:29004
    See related
    Ensembl:ENSG00000167395 MIM:619299; AllianceGenome:HGNC:29004
    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, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 13.8), spleen (RPKM 4.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31072687..31084196)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31460383..31471624)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31085743..31095517)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31001361-31002004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31002005-31002648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7407 Neighboring gene syntaxin 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31011808-31012308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31012309-31012809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31021995-31022496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31044203-31044714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31045227-31045737 Neighboring gene syntaxin 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31074971-31075598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31075599-31076226 Neighboring gene zinc finger protein 668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31084437-31085237 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085443-31085976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085977-31086509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31099941-31100441 Neighboring gene serine protease 53 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31104343-31105051 Neighboring gene zinc finger protein ENSP00000375192-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10748 Neighboring gene vitamin K epoxide reductase complex subunit 1

    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. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Pankratz N, et al. Ann Neurol, 2012 Mar. PMID 22451204, Free PMC Article
    2. 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
    3. UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair. Huang Q, et al. FASEB J, 2022 Jan. PMID 34921745
    4. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    5. The functional interactome of PYHIN immune regulators reveals IFIX is a sensor of viral DNA. Diner BA, et al. Mol Syst Biol, 2015 Feb 9. PMID 25665578, Free PMC Article

    See all (23) 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
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    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

    • KIAA0296

    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 DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 646

    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_014699.4 → NP_055514.3  zinc finger protein 646

      See identical proteins and their annotated locations for NP_055514.3

      Status: VALIDATED

      Source sequence(s)
      AC135050, BC035589
      Consensus CDS
      CCDS10702.1
      UniProtKB/Swiss-Prot
      O15015, Q8IVD8
      Related
      ENSP00000300850.5, ENST00000300850.5
      Conserved Domains (3) summary
      sd00017
      Location:1232 → 1252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:75 → 97
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:1718 → 1743
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      31072687..31084196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434956.1 → XP_047290912.1  zinc finger protein 646 isoform X1

      UniProtKB/Swiss-Prot
      O15015, Q8IVD8

    2. XM_011545990.3 → XP_011544292.1  zinc finger protein 646 isoform X1

      See identical proteins and their annotated locations for XP_011544292.1

      UniProtKB/Swiss-Prot
      O15015, Q8IVD8
      Conserved Domains (3) summary
      sd00017
      Location:1232 → 1252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:75 → 97
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:1718 → 1743
      zf-H2C2_2; Zinc-finger double domain

    3. XM_005255712.5 → XP_005255769.1  zinc finger protein 646 isoform X2

      Conserved Domains (3) summary
      COG5048
      Location:222 → 419
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:1232 → 1252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1718 → 1743
      zf-H2C2_2; Zinc-finger double domain

    4. XM_005255710.5 → XP_005255767.1  zinc finger protein 646 isoform X1

      See identical proteins and their annotated locations for XP_005255767.1

      UniProtKB/Swiss-Prot
      O15015, Q8IVD8
      Conserved Domains (3) summary
      sd00017
      Location:1232 → 1252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:75 → 97
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:1718 → 1743
      zf-H2C2_2; Zinc-finger double domain

    5. XM_047434957.1 → XP_047290913.1  zinc finger protein 646 isoform X2

    6. XM_005255711.5 → XP_005255768.1  zinc finger protein 646 isoform X1

      See identical proteins and their annotated locations for XP_005255768.1

      UniProtKB/Swiss-Prot
      O15015, Q8IVD8
      Conserved Domains (3) summary
      sd00017
      Location:1232 → 1252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:75 → 97
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:1718 → 1743
      zf-H2C2_2; Zinc-finger double domain

    7. XM_047434958.1 → XP_047290914.1  zinc finger protein 646 isoform X2

    RNA

    1. XR_001752041.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31460383..31471624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314489.1 → XP_054170464.1  zinc finger protein 646 isoform X1

      UniProtKB/Swiss-Prot
      O15015, Q8IVD8

    2. XM_054314491.1 → XP_054170466.1  zinc finger protein 646 isoform X2

    3. XM_054314488.1 → XP_054170463.1  zinc finger protein 646 isoform X1

      UniProtKB/Swiss-Prot
      O15015, Q8IVD8

    4. XM_054314492.1 → XP_054170467.1  zinc finger protein 646 isoform X2

    5. XM_054314490.1 → XP_054170465.1  zinc finger protein 646 isoform X1

      UniProtKB/Swiss-Prot
      O15015, Q8IVD8

    6. XM_054314493.1 → XP_054170468.1  zinc finger protein 646 isoform X2

    RNA

    1. XR_008484753.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15015.2 GenPept UniProtKB/Swiss-Prot:O15015

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