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ZNF682 zinc finger protein 682 [ Homo sapiens (human) ]

Gene ID: 91120, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF682provided by HGNC
Official Full Name
zinc finger protein 682provided by HGNC
Primary source
HGNC:HGNC:28857
See related
Ensembl:ENSG00000197124 AllianceGenome:HGNC:28857
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
BC39498_3
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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 2.3), skin (RPKM 2.1) and 23 other tissues See more
Orthologs
all
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Genomic context

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See ZNF682 in Genome Data Viewer
Location:
19p12
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19995131..20039505, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (20142143..20177228, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (20115227..20150314, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904665 Neighboring gene BCL2 interacting protein 3 pseudogene 12 Neighboring gene Sharpr-MPRA regulatory region 9515 Neighboring gene vomeronasal 1 receptor 77 pseudogene Neighboring gene uncharacterized LOC105372308 Neighboring gene BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:20150084-20150660 Neighboring gene uncharacterized LOC105372309 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:20162158-20162885 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:20162886-20163612 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:20169525-20170470 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:20170471-20171415 Neighboring gene BCL2 interacting protein 3 pseudogene 13

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. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
  2. 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
  3. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (8) 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

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

  • FLJ90362

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 682

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_001077349.1 → NP_001070817.1  zinc finger protein 682 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate segment in the 5' UTR and coding region and uses a downstream start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC006539, AK098164, DB174863
    Consensus CDS
    CCDS42534.1
    UniProtKB/TrEMBL
    B3KUX2
    Related
    ENSP00000380348.1, ENST00000397162.5
    Conserved Domains (4) summary
    smart00349
    Location:1 → 32
    KRAB; krueppel associated box
    COG5048
    Location:207 → 413
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:339 → 359
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:183 → 207
    zf-H2C2_2; Zinc-finger double domain

  2. NM_033196.3 → NP_149973.1  zinc finger protein 682 isoform 1

    See identical proteins and their annotated locations for NP_149973.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AC006539, DA612976, DA788529, DR002650
    Consensus CDS
    CCDS42533.1
    UniProtKB/Swiss-Prot
    B3KU64, E9PFJ5, O95780, Q96JV9
    Related
    ENSP00000380351.1, ENST00000397165.7
    Conserved Domains (5) summary
    smart00349
    Location:4 → 64
    KRAB; krueppel associated box
    COG5048
    Location:239 → 445
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:371 → 391
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:4 → 43
    KRAB; KRAB box
    pfam13465
    Location:215 → 239
    zf-H2C2_2; Zinc-finger double domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    19995131..20039505 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439655.1 → XP_047295611.1  zinc finger protein 682 isoform X1

  2. XM_047439657.1 → XP_047295613.1  zinc finger protein 682 isoform X2

  3. XM_047439658.1 → XP_047295614.1  zinc finger protein 682 isoform X2

  4. XM_047439656.1 → XP_047295612.1  zinc finger protein 682 isoform X2

    Related
    ENSP00000471717.1, ENST00000595736.1

RNA

  1. XR_007067033.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    20142143..20177228 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322560.1 → XP_054178535.1  zinc finger protein 682 isoform X1

  2. XM_054322561.1 → XP_054178536.1  zinc finger protein 682 isoform X1

  3. XM_054322563.1 → XP_054178538.1  zinc finger protein 682 isoform X2

  4. XM_054322564.1 → XP_054178539.1  zinc finger protein 682 isoform X2

  5. XM_054322562.1 → XP_054178537.1  zinc finger protein 682 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95780.1 GenPept UniProtKB/Swiss-Prot:O95780

Gene LinkOut

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