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    CCDC80 coiled-coil domain containing 80 [ Homo sapiens (human) ]

    Gene ID: 151887, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CCDC80provided by HGNC
    Official Full Name
    coiled-coil domain containing 80provided by HGNC
    Primary source
    HGNC:HGNC:30649
    See related
    Ensembl:ENSG00000091986 MIM:608298; AllianceGenome:HGNC:30649
    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
    CL2; URB; DRO1; SSG1; okuribin; LINC01279
    Summary
    Predicted to enable glycosaminoglycan binding activity. Predicted to act upstream of or within extracellular matrix organization; positive regulation of cell-substrate adhesion; and response to bacterium. Predicted to be located in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in gall bladder (RPKM 132.5), endometrium (RPKM 126.0) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112596797..112641143, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (115317839..115362183, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112315644..112359990, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 100 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20245 Neighboring gene autophagy related 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:112279571-112280380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:112280381-112281190 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112282811-112283620 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112283621-112284430 Neighboring gene solute carrier family 35 member A5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:112383725-112384298 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:112405169-112405758 Neighboring gene MAT2A pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2042 Neighboring gene microRNA 9900

    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. Loss of DRO1/CCDC80 in the tumor microenvironment promotes carcinogenesis. Christian JI, et al. Oncotarget, 2022. PMID 35422964, Free PMC Article
    2. The expression of long non-coding RNA LINC01279 in gastric adenocarcinoma and its clinical significance. Meng S, et al. Asian J Surg, 2022 Jun. PMID 34507839
    3. Identification of LINC01279 as a cell cycle‑associated long non‑coding RNA in endometriosis with GBA analysis. Liu J, et al. Mol Med Rep, 2018 Oct. PMID 30106115, Free PMC Article
    4. Adipose tissue and serum CCDC80 in obesity and its association with related metabolic disease. Osorio-Conles O, et al. Mol Med, 2017 Oct. PMID 28850155, Free PMC Article
    5. Tumor suppressor role of the CL2/DRO1/CCDC80 gene in thyroid carcinogenesis. Ferraro A, et al. J Clin Endocrinol Metab, 2013 Jul. PMID 23666966

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of DRO1/CCDC80 in the tumor microenvironment promotes carcinogenesis.
      Title: Loss of DRO1/CCDC80 in the tumor microenvironment promotes carcinogenesis.
    2. The expression of long non-coding RNA LINC01279 in gastric adenocarcinoma and its clinical significance.
      Title: The expression of long non-coding RNA LINC01279 in gastric adenocarcinoma and its clinical significance.
    3. Plasma asprosin, CCDC80 and ANGPTL4 levels are associated with metabolic and cardiovascular risk in patients with inflammatory bowel disease.
      Title: Plasma asprosin, CCDC80 and ANGPTL4 levels are associated with metabolic and cardiovascular risk in patients with inflammatory bowel disease.
    4. LINC01279 and MSC-AS1 were upregulated in endometriosis. LINC01279 may be associated with the pathogenesis of endometriosis.
      Title: Identification of LINC01279 as a cell cycle‑associated long non‑coding RNA in endometriosis with GBA analysis.
    5. The authors identified that CCDC80 has genetic and functional relevance to Intracranial Aneurysm pathogenesis in the French-Canadian population.
      Title: Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.
    6. Our finding of upregulated CCDC80 expression in the visceral adipose tissue of obese patients indicates that it may be a component of the obesity-altered secretome in this depot. Furthermore, the presence of CCDC80 protein in human serum and its association with systemic metabolic dysfunction suggests that it may be linked to metabolic changes in other organs.
      Title: Adipose tissue and serum CCDC80 in obesity and its association with related metabolic disease.
    7. Ccdc80 is a novel betacat-regulated gene in adrenocortical cells
      Title: Wnt signaling inhibits adrenal steroidogenesis by cell-autonomous and non-cell-autonomous mechanisms.
    8. activation of PKGI with cGMP regulated SSG1 intracellular distribution.
      Title: Steroid-sensitive gene 1 is a novel cyclic GMP-dependent protein kinase I substrate in vascular smooth muscle cells.
    9. Data suggest that CCDC80 expression is down-regulated in many thyroid carcinomas; loss of heterozygosity partially accounts for CCDC80 down-regulation in thyroid carcinoma; CCDC80 expression positively regulates expression of E-cadherin.
      Title: Tumor suppressor role of the CL2/DRO1/CCDC80 gene in thyroid carcinogenesis.
    10. The CCDC80 protein has three P-DUDES structural domains. These domains have significant albeit remote sequence similarity to thioredoxin-like domains and are predicted to have an oxidoreductase function.
      Title: [A case of mixed tumor of the palate].
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44429, MGC131805, MGC134851

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fibronectin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell-substrate adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in basement membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in interstitial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 80
    Names
    TCONS_00006930
    down-regulated by oncogenes protein 1
    long intergenic non-protein coding RNA 1279
    nuclear envelope protein okuribin
    steroid sensitive gene 1
    up-regulated in BRS-3 deficient mouse homolog

    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_199511.3 → NP_955805.1  coiled-coil domain-containing protein 80 precursor

      See identical proteins and their annotated locations for NP_955805.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC048334
      Consensus CDS
      CCDS2968.1
      UniProtKB/Swiss-Prot
      D3DN67, Q5PR20, Q6GPG9, Q76M96, Q8IVT6, Q8NBV1, Q8NHY8
      UniProtKB/TrEMBL
      A3KC71, A8KA16
      Related
      ENSP00000206423.3, ENST00000206423.8
      Conserved Domains (2) summary
      pfam13778
      Location:771 → 900
      DUF4174; Domain of unknown function (DUF4174)
      pfam15961
      Location:28 → 150
      DUF4764; Domain of unknown function (DUF4764)

    2. NM_199512.3 → NP_955806.1  coiled-coil domain-containing protein 80 precursor

      See identical proteins and their annotated locations for NP_955806.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC048334
      Consensus CDS
      CCDS2968.1
      UniProtKB/Swiss-Prot
      D3DN67, Q5PR20, Q6GPG9, Q76M96, Q8IVT6, Q8NBV1, Q8NHY8
      UniProtKB/TrEMBL
      A3KC71, A8KA16
      Related
      ENSP00000411814.2, ENST00000439685.6
      Conserved Domains (2) summary
      pfam13778
      Location:771 → 900
      DUF4174; Domain of unknown function (DUF4174)
      pfam15961
      Location:28 → 150
      DUF4764; Domain of unknown function (DUF4764)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      112596797..112641143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447495.1 → XP_047303451.1  coiled-coil domain-containing protein 80 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      115317839..115362183 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178274.2: Suppressed sequence

      Description
      NM_178274.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q76M96.1 GenPept UniProtKB/Swiss-Prot:Q76M96

    Gene LinkOut

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

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