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    ZNF681 zinc finger protein 681 [ Homo sapiens (human) ]

    Gene ID: 148213, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF681provided by HGNC
    Official Full Name
    zinc finger protein 681provided by HGNC
    Primary source
    HGNC:HGNC:26457
    See related
    Ensembl:ENSG00000196172 AllianceGenome:HGNC:26457
    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
    This gene encodes a protein containing the krueppel associated box (KRAB) and zinc-finger domains, which may be involved in transcriptional regulation. Non-functional alleles of this gene are present in alternate genome assemblies including T2T-CHM13v1.1, resulting from a 'TG' deletion (rs61397759) which causes a frameshift and a premature stop codon. [provided by RefSeq, Sep 2022]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Ubiquitous expression in brain (RPKM 1.3), lymph node (RPKM 1.2) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19p12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (23739195..23758891, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (23879155..23899306, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (23921997..23941693, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 93 pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:23848667-23849407 Neighboring gene zinc finger protein 675 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:23868450-23869420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14394 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:23906366-23907280 Neighboring gene vomeronasal 1 receptor 94 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:23941373-23941891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:23944886-23945526 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:23945527-23946168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:23951857-23952358 Neighboring gene ribosomal protein SA 2 Neighboring gene BCL2 interacting protein 3 pseudogene 39 Neighboring gene uncharacterized LOC124904677

    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. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    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

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31526

    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 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 681

    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_138286.3 → NP_612143.2  zinc finger protein 681

      See identical proteins and their annotated locations for NP_612143.2

      Status: VALIDATED

      Source sequence(s)
      AC073544, AK122869, BC062216, BU726573
      Consensus CDS
      CCDS12414.2
      UniProtKB/Swiss-Prot
      B3KVF7, Q96N22
      Related
      ENSP00000384000.3, ENST00000402377.3
      Conserved Domains (5) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:198 → 610
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:340 → 360
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:576 → 601
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_178026.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CP068259

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      23739195..23758891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      23879155..23899306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96N22.2 GenPept UniProtKB/Swiss-Prot:Q96N22

    Gene LinkOut

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

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