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

Summary

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 fibronectin binding activity and heparin binding activity. Predicted to be involved in extracellular matrix organization and positive regulation of cell-substrate adhesion. Predicted to act upstream of or within response to bacterium. Predicted to be located in extracellular region; interstitial matrix; and membrane. Predicted to be active in basement membrane. [provided by Alliance of Genome Resources, Nov 2024]
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

Location:: 3q13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (112596797..112641143, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (115317839..115362183, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (112315644..112359990, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Silencing immune-infiltrating biomarker CCDC80 inhibits malignant characterization and tumor formation in gastric cancer.
Title: Silencing immune-infiltrating biomarker CCDC80 inhibits malignant characterization and tumor formation in gastric cancer.
Loss of DRO1/CCDC80 in the tumor microenvironment promotes carcinogenesis.
Title: Loss of DRO1/CCDC80 in the tumor microenvironment promotes carcinogenesis.
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.
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.
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.
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.
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.
Ccdc80 is a novel betacat-regulated gene in adrenocortical cells
Title: Wnt signaling inhibits adrenal steroidogenesis by cell-autonomous and non-cell-autonomous mechanisms.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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 EBI GWAS CatalogPubMed

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

RH80490 (e-PCR)
- UniSTS:90897

SHGC-77206 (e-PCR)
- UniSTS:21014

D3S3894 (e-PCR)
- UniSTS:14901

STS-N24008 (e-PCR)
- UniSTS:38005

RH102812 (e-PCR)
- UniSTS:97146

SHGC-77203 (e-PCR)
- UniSTS:33950

CCDC80 (e-PCR)
- UniSTS:505549

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)

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)
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_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

112596797..112641143 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

115317839..115362183 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178274.2: Suppressed sequence

Description

NM_178274.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.