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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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See ZNF681 in Genome Data Viewer
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

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