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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 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

  • 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

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