Aliases for CCDC80 Gene

Aliases for CCDC80 Gene

  • Coiled-Coil Domain Containing 80 2 3 5
  • DRO1 2 3 4
  • URB 2 3 4
  • Up-Regulated In BRS-3 Deficient Mouse Homolog 3 4
  • Long Intergenic Non-Protein Coding RNA 1279 2 3
  • Coiled-Coil Domain-Containing Protein 80 3 4
  • Down-Regulated By Oncogenes Protein 1 3 4
  • Steroid Sensitive Gene 1 2 3
  • TCONS_00006930 2 3
  • SSG1 2 3
  • CL2 2 3
  • Nuclear Envelope Protein Okuribin 3
  • LINC01279 3
  • Okuribin 3
  • CCDC80 5

External Ids for CCDC80 Gene

Previous HGNC Symbols for CCDC80 Gene

  • LINC01279

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. Diseases associated with CCDC80 include Herpes Zoster Oticus and Ovary Sarcoma. Gene Ontology (GO) annotations related to this gene include heparin binding and glycosaminoglycan binding.

UniProtKB/Swiss-Prot Summary for CCDC80 Gene

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 , Rfam classification and piRNA Summary for CCDC80 Gene

Genomics for CCDC80 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC80 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC80

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

Genomic Locations for CCDC80 Gene

Genomic Locations for CCDC80 Gene
chr3:112,596,794-112,649,530
(GRCh38/hg38)
Size:
52,737 bases
Orientation:
Minus strand
chr3:112,323,407-112,368,377
(GRCh37/hg19)
Size:
44,971 bases
Orientation:
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:
    Q76M96-CCD80_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 80
    Protein Accession:
    Q76M96
    Secondary Accessions:
    • D3DN67
    • Q5PR20
    • Q6GPG9
    • Q8IVT6
    • Q8NBV1
    • Q8NHY8

    Protein attributes for CCDC80 Gene

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

    Alternative splice isoforms for CCDC80 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC80 Gene

Post-translational modifications for CCDC80 Gene

  • Phosphorylated.
  • Glycosylation at Ser64, Thr65, Thr89, Thr323, Ser409, Ser411, Ser418, Ser513, Thr516, Asn667, and Asn835
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CCD80_HUMAN (1124)

Other Protein References for CCDC80 Gene

Assay Products

  • Boster Bio ELISA Kits for CCDC80
  • Signalway ELISA kits for CCDC80

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC80 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear envelope protein okuribin (A3KC71_HUMAN)
  • Up-regulated in BRS-3 deficient mouse homolog (CCD80_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q76M96

UniProtKB/Swiss-Prot:

CCD80_HUMAN :
  • Belongs to the CCDC80 family.
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: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

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

COMPARTMENTS
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 3
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1

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:0016020 membrane IEA --
GO:0016021 integral component of 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

PathCards logo

SuperPathways for CCDC80 Gene

No Data Available

Interacting Proteins for CCDC80 Gene

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

Gene Ontology (GO) - Biological Process for CCDC80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009617 response to bacterium IEA --
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

2 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2:
SP3: -

Relevant External Links for CCDC80 Gene

GeneLoc Exon Structure for
CCDC80

Expression for CCDC80 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC80

SOURCE GeneReport for Unigene cluster for CCDC80 Gene:

Hs.477128

mRNA Expression by UniProt/SwissProt for CCDC80 Gene:

Q76M96-CCD80_HUMAN
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(4.9)
  • Nervous system(4.8)
  • Intestine(4.5)
  • Stomach(4.3)
  • Lung(3.2)
  • Heart(3)
  • Bone(2.7)
  • Muscle(2.6)
  • Gall bladder(2.2)
  • Kidney(2.2)
  • Thyroid gland(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
Chimpanzee
(Pan troglodytes)
Mammalia CCDC80 30 31
  • 99.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC80 30 31
  • 87.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccdc80 30 17 31
  • 84.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc80 30
  • 84.46 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC80 31
  • 84 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC80 30 31
  • 80.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC80 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC80 30 31
  • 69.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC80 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.11954 30
Zebrafish
(Danio rerio)
Actinopterygii ccdc80 30 31
  • 62.75 (n)
OneToMany
ccdc80l1 31
  • 47 (a)
OneToMany
CCDC80 (3 of 3) 31
  • 35 (a)
OneToMany
Species where no ortholog for CCDC80 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

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

Paralogs for CCDC80 Gene

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

  • CCD80_HUMAN
  • C9J8I6_HUMAN
  • H7C5K4_HUMAN
genes like me logo Genes that share paralogs with CCDC80: view

No data available for Paralogs for CCDC80 Gene

Variants for CCDC80 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC80 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
717696 Likely Benign: not provided 112,605,458(-) A/G MISSENSE_VARIANT
773674 Benign: not provided 112,639,639(-) T/C SYNONYMOUS_VARIANT
780880 Benign: not provided 112,639,417(-) G/A SYNONYMOUS_VARIANT
791088 Benign: not provided 112,638,489(-) G/A MISSENSE_VARIANT
791246 Benign: not provided 112,609,989(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CCDC80 Gene

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

Variant ID Type Subtype PubMed ID
nsv591293 CNV loss 21841781
nsv591293 CNV loss 21841781
nsv591301 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
CCDC80

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

Disorders for CCDC80 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CCDC80 Gene - From: DISEASES

Disorder Aliases PubMed IDs
herpes zoster oticus
  • ramsay hunt syndrome
ovary sarcoma
  • sarcoma of ovary
peripheral nervous system disease
  • peripheral nerve disease
eye disease
  • abnormality of the eye
strabismus
  • strabismus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC80

genes like me logo Genes that share disorders with CCDC80: view

No data available for 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 23
  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
  3. 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
  4. URB expression in human dermal papilla cells. (PMID: 15998583) Cha SY … Kim JC (Journal of dermatological science 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for CCDC80 Gene

  • Boster Bio Antibodies for CCDC80
  • Boster Bio ELISA Kits for CCDC80
  • Signalway ELISA kits for CCDC80

Sources for CCDC80 Gene