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

    Gene ID: 340252, updated on 27-Nov-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 DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See ZNF680 in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (64499069..64563071, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (65706037..65770587, complement)
    RS_2024_09 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. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    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. 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
    4. PRISMA and BioID disclose a motifs-based interactome of the intrinsically disordered transcription factor C/EBPα. Ramberger E, et al. iScience, 2021 Jun 25. PMID 34189442, Free PMC Article
    5. 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

    See all (13) 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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    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)

    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_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
      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

    Gene LinkOut

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

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