Format

Send to:

Choose Destination

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

Gene ID: 151887, updated on 24-Nov-2020

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
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
Expression
Broad expression in gall bladder (RPKM 132.5), endometrium (RPKM 126.0) and 17 other tissues See more
Orthologs

Genomic context

See CCDC80 in Genome Data Viewer
Location:
3q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (112596797..112641143, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112323407..112359977, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 100 pseudogene Neighboring gene autophagy related 3 Neighboring gene solute carrier family 35 member A5 Neighboring gene methionine adenosyltransferase 2A pseudogene Neighboring gene long intergenic non-protein coding RNA 2042 Neighboring gene microRNA 9900

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44429, MGC131805, MGC134851

Gene Ontology Provided by GOA

Function Evidence Code Pubs
fibronectin binding IEA
Inferred from Electronic Annotation
more info
 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
interstitial matrix IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_199511.3NP_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
    Q76M96
    Related
    ENSP00000206423.3, ENST00000206423.7
    Conserved Domains (2) summary
    pfam13778
    Location:771900
    DUF4174; Domain of unknown function (DUF4174)
    pfam15961
    Location:28150
    DUF4764; Domain of unknown function (DUF4764)
  2. NM_199512.3NP_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
    Q76M96
    Related
    ENSP00000411814.2, ENST00000439685.6
    Conserved Domains (2) summary
    pfam13778
    Location:771900
    DUF4174; Domain of unknown function (DUF4174)
    pfam15961
    Location:28150
    DUF4764; Domain of unknown function (DUF4764)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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