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ZNF680 zinc finger protein 680 [ Homo sapiens (human) ]

Gene ID: 340252, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF680provided by HGNC
Official Full Name
zinc finger protein 680provided by HGNC
Primary source
HGNC:HGNC:26897
See related
Ensembl:ENSG00000173041 AllianceGenome:HGNC:26897
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
Ubiquitous expression in thyroid (RPKM 7.3), adrenal (RPKM 3.9) and 24 other tissues See more
Orthologs
all
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Genomic context

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Location:
7q11.21
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (64499069..64563071, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (65706037..65770587, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (63980256..64023449, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ZNF680 pseudogene 1 Neighboring gene vomeronasal 1 receptor 41 pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 7 Neighboring gene MPRA-validated peak6531 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:64014505-64015010 Neighboring gene BCL2 interacting protein 3 pseudogene 42 Neighboring gene Sharpr-MPRA regulatory region 12132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18196 Neighboring gene PAGE family member 4 pseudogene Neighboring gene IgLON family member 5 pseudogene Neighboring gene uncharacterized LOC124901657

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. 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
  2. The in vivo Interaction Landscape of Histones H3.1 and H3.3. Siddaway R, et al. Mol Cell Proteomics, 2022 Oct. PMID 36089195, Free PMC Article
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article
  4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121, Free PMC Article
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

  • FLJ90430

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 680

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_001130022.2 → NP_001123494.1  zinc finger protein 680 isoform 2

    See identical proteins and their annotated locations for NP_001123494.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has a different 3' coding region and 3' UTR, compared to variant 1, resulting in a shorter protein (isoform 2) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK131240, DA669757
    Consensus CDS
    CCDS47594.1
    UniProtKB/Swiss-Prot
    Q8NEM1
    Related
    ENSP00000393506.2, ENST00000447137.2
    Conserved Domains (2) summary
    smart00349
    Location:13 → 73
    KRAB; krueppel associated box
    pfam01352
    Location:13 → 52
    KRAB; KRAB box

  2. NM_178558.5 → NP_848653.2  zinc finger protein 680 isoform 1

    See identical proteins and their annotated locations for NP_848653.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC016769, BC030700, DA669757
    Consensus CDS
    CCDS34644.1
    UniProtKB/Swiss-Prot
    B3KVJ4, Q6ZNF3, Q8NC79, Q8NEM1
    Related
    ENSP00000309330.6, ENST00000309683.11
    Conserved Domains (6) summary
    smart00349
    Location:13 → 73
    KRAB; krueppel associated box
    COG5048
    Location:152 → 513
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324 → 344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:490 → 512
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:13 → 52
    KRAB; KRAB box
    pfam13465
    Location:392 → 416
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    64499069..64563071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446743.1 → XP_024302511.2  zinc finger protein 680 isoform X4

  2. XM_047420309.1 → XP_047276265.1  zinc finger protein 680 isoform X1

  3. XM_047420310.1 → XP_047276266.1  zinc finger protein 680 isoform X2

  4. XM_047420311.1 → XP_047276267.1  zinc finger protein 680 isoform X2

  5. XM_024446746.2 → XP_024302514.1  zinc finger protein 680 isoform X3

    Conserved Domains (2) summary
    COG5048
    Location:44 → 181
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:132 → 152
    ZF_C2H2; C2H2 Zn finger [structural motif]

  6. XM_047420312.1 → XP_047276268.1  zinc finger protein 680 isoform X3

RNA

  1. XR_428175.5 RNA Sequence

  2. XR_001744687.2 RNA Sequence

  3. XR_007060018.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    65706037..65770587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358092.1 → XP_054214067.1  zinc finger protein 680 isoform X4

  2. XM_054358086.1 → XP_054214061.1  zinc finger protein 680 isoform X1

  3. XM_054358087.1 → XP_054214062.1  zinc finger protein 680 isoform X2

  4. XM_054358088.1 → XP_054214063.1  zinc finger protein 680 isoform X2

  5. XM_054358089.1 → XP_054214064.1  zinc finger protein 680 isoform X3

  6. XM_054358090.1 → XP_054214065.1  zinc finger protein 680 isoform X3

  7. XM_054358091.1 → XP_054214066.1  zinc finger protein 680 isoform X5

RNA

  1. XR_008487589.1 RNA Sequence

  2. XR_008487591.1 RNA Sequence

  3. XR_008487590.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NEM1.2 GenPept UniProtKB/Swiss-Prot:Q8NEM1

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