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    ZNF716 zinc finger protein 716 [ Homo sapiens (human) ]

    Gene ID: 441234, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF716provided by HGNC
    Official Full Name
    zinc finger protein 716provided by HGNC
    Primary source
    HGNC:HGNC:32458
    See related
    Ensembl:ENSG00000182111 AllianceGenome:HGNC:32458
    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 DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ZNF716 in Genome Data Viewer
    Location:
    7p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (57450177..57473559)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (57693689..57717068)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (57509883..57533265)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 28 pseudogene Neighboring gene suppressor APC domain containing 2 pseudogene 2 Neighboring gene vomeronasal 1 receptor 29 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:57551016-57551994 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:57551995-57552973 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:57553020-57553651 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:57553652-57554282 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:57554283-57554914 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:57554915-57555545 Neighboring gene uncharacterized LOC105375300

    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. Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. Simino J, et al. Front Genet, 2013. PMID 24376456, Free PMC Article
    2. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article
    3. ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Yang W, et al. Theranostics, 2022. PMID 36168627, Free PMC Article
    4. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) 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
    Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
    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

    • FLJ46189

    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
    		  
    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 716

    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_001159279.1 → NP_001152751.1  zinc finger protein 716

      See identical proteins and their annotated locations for NP_001152751.1

      Status: VALIDATED

      Source sequence(s)
      AC092175, AK131575
      Consensus CDS
      CCDS55112.1
      UniProtKB/Swiss-Prot
      A6NP11
      Related
      ENSP00000394248.1, ENST00000420713.2
      Conserved Domains (6) summary
      smart00349
      Location:16 → 76
      KRAB; krueppel associated box
      COG5048
      Location:211 → 494
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:298 → 318
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:16 → 55
      KRAB; KRAB box
      pfam13465
      Location:228 → 251
      zf-H2C2_2; Zinc-finger double domain
      pfam14353
      Location:353 → 398
      CpXC; CpXC protein

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      57450177..57473559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      57693689..57717068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NP11.4 GenPept UniProtKB/Swiss-Prot:A6NP11

    Gene LinkOut

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

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