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Aliases for CCDC80 Gene

Aliases for CCDC80 Gene

  • Coiled-Coil Domain Containing 80 2 3 5
  • Up-Regulated In BRS-3 Deficient Mouse Homolog 3 4
  • Down-Regulated By Oncogenes Protein 1 3 4
  • Steroid Sensitive Gene 1 2 3
  • DRO1 3 4
  • URB 3 4
  • Coiled-Coil Domain-Containing Protein 80 3
  • Nuclear Envelope Protein Okuribin 3
  • Okuribin 3
  • SSG1 3

External Ids for CCDC80 Gene

Previous GeneCards Identifiers for CCDC80 Gene

  • GC03M113807
  • GC03M112323
  • GC03M109706

Summaries for CCDC80 Gene

GeneCards Summary for CCDC80 Gene

CCDC80 (Coiled-Coil Domain Containing 80) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include heparin binding and glycosaminoglycan binding. An important paralog of this gene is SRPX2.

UniProtKB/Swiss-Prot for CCDC80 Gene

  • Promotes cell adhesion and matrix assembly.

Gene Wiki entry for CCDC80 Gene

Additional gene information for CCDC80 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC80 Gene

Genomics for CCDC80 Gene

GeneHancer (GH) Regulatory Elements for CCDC80 Gene

Promoters and enhancers for CCDC80 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J112634 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 658.3 +9.9 9936 10.2 PKNOX1 ZNF133 SIN3A ZNF2 POLR2B ARID2 ZNF143 FOS RUNX3 DEK CCDC80 CD200R1 ENSG00000242770 SPICE1 C3orf52 MIR567 SLC35A5 LINC01279
GH03J112646 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 659.9 -1.9 -1865 10.5 PKNOX1 FOXA2 SIN3A RAD21 FOS RUNX3 CEBPB REST SP1 ZNF217 CCDC80 ENSG00000242770 NEPRO GC03M112647
GH03J112559 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 +87.9 87926 4.1 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC35A5 ATG3 NEPRO SPICE1 CFAP44 LOC101180897 BOC CCDC80 MIR567 C3orf52
GH03J112670 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 7.8 -23.0 -22984 4.6 KLF1 ZBTB11 CEBPB ZNF384 FEZF1 EP300 SP1 JUND NFIC POLR2A GC03M112647 NEPRO CFAP44 CCDC80 SLC35A5 GC03P112695
GH03J112615 Enhancer 0.9 ENCODE dbSUPER 10.8 +33.7 33695 1.1 BACH1 ZNF644 E4F1 IRF9 DIDO1 NFE2 SRF ZNF639 RFX1 CAVIN1 NEPRO SPICE1 LOC101180897 CFAP44 BOC CCDC80 LINC01279
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC80 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC80 gene promoter:
  • RFX1
  • Bach1
  • c-Rel
  • LUN-1
  • NF-kappaB2
  • NF-kappaB1
  • NF-kappaB
  • IRF-2
  • ZID
  • Pax-4a

Genomic Locations for CCDC80 Gene

Genomic Locations for CCDC80 Gene
52,737 bases
Minus strand
44,971 bases
Minus strand

Genomic View for CCDC80 Gene

Genes around CCDC80 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC80 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC80 Gene

Proteins for CCDC80 Gene

  • Protein details for CCDC80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 80
    Protein Accession:
    Secondary Accessions:
    • D3DN67
    • Q5PR20
    • Q6GPG9
    • Q8IVT6
    • Q8NBV1
    • Q8NHY8

    Protein attributes for CCDC80 Gene

    950 amino acids
    Molecular mass:
    108174 Da
    Quaternary structure:
    • Binds to various extracellular matrix proteins.

    Alternative splice isoforms for CCDC80 Gene


neXtProt entry for CCDC80 Gene

Post-translational modifications for CCDC80 Gene

  • Phosphorylated.
  • Glycosylation at posLast=516516, Ser409, Thr323, posLast=8989, and posLast=6565
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC80 Gene

No data available for DME Specific Peptides for CCDC80 Gene

Domains & Families for CCDC80 Gene

Gene Families for CCDC80 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CCDC80 Gene


Suggested Antigen Peptide Sequences for CCDC80 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CCDC80 family.
  • Belongs to the CCDC80 family.
genes like me logo Genes that share domains with CCDC80: view

Function for CCDC80 Gene

Molecular function for CCDC80 Gene

UniProtKB/Swiss-Prot Function:
Promotes cell adhesion and matrix assembly.
UniProtKB/Swiss-Prot Induction:
Down-regulated in cancer and after osteoblastic differentiation. Up-regulated by dihydrotestosterone (DHT).

Phenotypes From GWAS Catalog for CCDC80 Gene

Gene Ontology (GO) - Molecular Function for CCDC80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IEA --
GO:0005515 protein binding IEA --
GO:0005539 glycosaminoglycan binding IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with CCDC80: view
genes like me logo Genes that share phenotypes with CCDC80: view

Animal Models for CCDC80 Gene

MGI Knock Outs for CCDC80:

Animal Model Products

  • Taconic Biosciences Mouse Models for CCDC80

CRISPR Products

miRNA for CCDC80 Gene

miRTarBase miRNAs that target CCDC80

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC80

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC80 Gene

Localization for CCDC80 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC80 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC80 gene
Compartment Confidence
extracellular 2
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for CCDC80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005604 basement membrane IEA --
GO:0005614 interstitial matrix IEA --
GO:0005615 extracellular space IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CCDC80: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCDC80 Gene

Pathways & Interactions for CCDC80 Gene

SuperPathways for CCDC80 Gene

No Data Available

Interacting Proteins for CCDC80 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q76M96-CCD80_HUMAN ENSP00000206423 for CCDC80 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CCDC80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with CCDC80: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC80 Gene

Drugs & Compounds for CCDC80 Gene

No Compound Related Data Available

Transcripts for CCDC80 Gene

mRNA/cDNA for CCDC80 Gene

Unigene Clusters for CCDC80 Gene

Coiled-coil domain containing 80:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC80

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC80 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP3: -

Relevant External Links for CCDC80 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC80 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC80 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC80 Gene

This gene is overexpressed in Amniocyte (36.0) and Bone marrow mesenchymal stem cell (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC80 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC80 Gene:


SOURCE GeneReport for Unigene cluster for CCDC80 Gene:


mRNA Expression by UniProt/SwissProt for CCDC80 Gene:

Tissue specificity: Expressed in dermal papilla and dermal fibroblasts (at protein level). Expressed in heart, thymus, placenta, pancreas, colon, epithelium, spleen and osteoblasts.

Evidence on tissue expression from TISSUES for CCDC80 Gene

  • Skin(4.8)
  • Nervous system(4.7)
  • Intestine(4.4)
  • Stomach(4.2)
  • Lung(2.8)
  • Heart(2.4)
  • Bone(2.2)
  • Gall bladder(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with CCDC80: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC80 Gene

Orthologs for CCDC80 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC80 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC80 34 33
  • 99.19 (n)
(Bos Taurus)
Mammalia CCDC80 34 33
  • 87.68 (n)
(Mus musculus)
Mammalia Ccdc80 16 34 33
  • 84.78 (n)
(Rattus norvegicus)
Mammalia Ccdc80 33
  • 84.46 (n)
(Ornithorhynchus anatinus)
Mammalia CCDC80 34
  • 84 (a)
(Canis familiaris)
Mammalia CCDC80 34 33
  • 80.61 (n)
(Monodelphis domestica)
Mammalia CCDC80 34
  • 70 (a)
(Gallus gallus)
Aves CCDC80 34 33
  • 69.72 (n)
(Anolis carolinensis)
Reptilia CCDC80 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11954 33
(Danio rerio)
Actinopterygii ccdc80 34 33
  • 62.75 (n)
ccdc80l1 34
  • 47 (a)
CCDC80 (3 of 3) 34
  • 35 (a)
Species where no ortholog for CCDC80 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC80 Gene

Gene Tree for CCDC80 (if available)
Gene Tree for CCDC80 (if available)
Evolutionary constrained regions (ECRs) for CCDC80: view image

Paralogs for CCDC80 Gene

Paralogs for CCDC80 Gene

(1) SIMAP similar genes for CCDC80 Gene using alignment to 3 proteins:

  • C9J8I6_HUMAN
  • H7C5K4_HUMAN
genes like me logo Genes that share paralogs with CCDC80: view

Variants for CCDC80 Gene

Sequence variations from dbSNP and Humsavar for CCDC80 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000164831 -- 112,625,510(-) C/A/G intron_variant
rs1000165382 -- 112,605,038(-) G/A 3_prime_UTR_variant
rs1000252157 -- 112,630,387(-) T/C intron_variant
rs1000339204 -- 112,618,502(-) G/T intron_variant
rs1000474972 -- 112,618,287(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC80 Gene

Variant ID Type Subtype PubMed ID
nsv591293 CNV loss 21841781
nsv591301 CNV loss 21841781

Variation tolerance for CCDC80 Gene

Residual Variation Intolerance Score: 60.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC80 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC80 Gene

Disorders for CCDC80 Gene

Additional Disease Information for CCDC80

No disorders were found for CCDC80 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC80 Gene

Publications for CCDC80 Gene

  1. URB is abundantly expressed in adipose tissue and dysregulated in obesity. (PMID: 18178152) Okada T … Funahashi T (Biochemical and biophysical research communications 2008) 2 3 22 58
  2. URB expression in human bone marrow stromal cells and during mouse development. (PMID: 15325258) Liu Y … Castagnola P (Biochemical and biophysical research communications 2004) 2 3 4 58
  3. URB expression in human dermal papilla cells. (PMID: 15998583) Cha SY … Kim JC (Journal of dermatological science 2005) 3 4 58
  4. DRO1, a gene down-regulated by oncogenes, mediates growth inhibition in colon and pancreatic cancer cells. (PMID: 15563452) Bommer GT … Kolligs FT (The Journal of biological chemistry 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CCDC80 Gene

Sources for CCDC80 Gene

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