Aliases for CCDC83 Gene

Aliases for CCDC83 Gene

  • Coiled-Coil Domain Containing 83 2 3 5
  • Coiled-Coil Domain-Containing Protein 83 3 4
  • KP-CoT-23 2 3
  • CT148 2 3
  • MGC34732 2
  • FLJ42119 2
  • CCDC83 5
  • HSD9 3

External Ids for CCDC83 Gene

Previous GeneCards Identifiers for CCDC83 Gene

  • GC11P085244
  • GC11P085566
  • GC11P081863

Summaries for CCDC83 Gene

GeneCards Summary for CCDC83 Gene

CCDC83 (Coiled-Coil Domain Containing 83) is a Protein Coding gene.

Additional gene information for CCDC83 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC83 Gene

Genomics for CCDC83 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC83 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J085854 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 616.6 -0.4 -366 2.6 RNF2 CREB1 GATAD2A CTCF ZBTB33 TFE3 ZNF512 RFX1 NFKBIZ ZNF692 CCDC83 ENSG00000279742 piR-43097-016 piR-56759-095 SYTL2 CCDC89 CREBZF
GH11J085821 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 625.4 -28.0 -28020 11.7 CREB1 CTCF ARID3A ZNF629 ZNF512 RFX1 TARDBP ZHX2 FOXA1 PRDM1 CCDC83 CREBZF CCDC89 SYTL2 TMEM126A EED piR-36393-088
GH11J086060 Promoter/Enhancer 2.1 EPDnew ENCODE CraniofacialAtlas dbSUPER 11 +211.1 211113 10.4 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 LEF1 IKZF1 PICALM EED CREBZF CCDC83 NONHSAG009267.2 lnc-CCDC83-3 lnc-SYTL2-5 lnc-SYTL2-4
GH11J085875 Enhancer 0.8 Ensembl ENCODE 25.6 +20.2 20235 2.2 CREB1 REST ATF7 JUND CEBPB CTBP1 FOXA2 JUN FOS CUX1 CCDC83 ENSG00000255005 AHCYP6 piR-32285-014 PICALM
GH11J085808 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.6 -44.6 -44609 3.2 CTCF ZNF629 JUND ZIC2 PKNOX1 PATZ1 POLR2A EZH2 ZNF600 GTF2F1 SYTL2 lnc-CCDC89-8 CCDC83 CCDC89 lnc-CCDC89-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC83 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC83

Top Transcription factor binding sites by QIAGEN in the CCDC83 gene promoter:
  • AML1a
  • AP-4
  • E47
  • E4BP4
  • En-1
  • LCR-F1
  • p300
  • Sox5
  • Tal-1

Genomic Locations for CCDC83 Gene

Genomic Locations for CCDC83 Gene
chr11:85,855,066-85,920,021
(GRCh38/hg38)
Size:
64,956 bases
Orientation:
Plus strand
chr11:85,566,144-85,631,064
(GRCh37/hg19)
Size:
64,921 bases
Orientation:
Plus strand

Genomic View for CCDC83 Gene

Genes around CCDC83 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC83 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC83 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC83 Gene

Proteins for CCDC83 Gene

  • Protein details for CCDC83 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWF9-CCD83_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 83
    Protein Accession:
    Q8IWF9
    Secondary Accessions:
    • B2RA49
    • Q6X7T2
    • Q6ZVT5
    • Q8N9Y1

    Protein attributes for CCDC83 Gene

    Size:
    413 amino acids
    Molecular mass:
    48851 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04154.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC83 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC83 Gene

Post-translational modifications for CCDC83 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC83 Gene

Domains & Families for CCDC83 Gene

Gene Families for CCDC83 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC83 Gene

InterPro:
Blocks:
  • Tobacco mosaic virus coat protein
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC83 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 83 (CCD83_HUMAN)
genes like me logo Genes that share domains with CCDC83: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC83 Gene

Function for CCDC83 Gene

Phenotypes From GWAS Catalog for CCDC83 Gene

Phenotypes for CCDC83 Gene

genes like me logo Genes that share phenotypes with CCDC83: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC83

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC83 Gene

Localization for CCDC83 Gene

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 CCDC83 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC83 Gene

Pathways & Interactions for CCDC83 Gene

PathCards logo

SuperPathways for CCDC83 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC83 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC83 Gene

Drugs & Compounds for CCDC83 Gene

No Compound Related Data Available

Transcripts for CCDC83 Gene

mRNA/cDNA for CCDC83 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 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 CCDC83

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC83 Gene

No ASD Table

Relevant External Links for CCDC83 Gene

GeneLoc Exon Structure for
CCDC83

Expression for CCDC83 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC83 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC83 Gene

This gene is overexpressed in Testis (x52.2).

Protein differential expression in normal tissues from HIPED for CCDC83 Gene

This gene is overexpressed in Gallbladder (43.0), Breast (16.5), and Heart (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC83 Gene



Protein tissue co-expression partners for CCDC83 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC83

SOURCE GeneReport for Unigene cluster for CCDC83 Gene:

Hs.567774
genes like me logo Genes that share expression patterns with CCDC83: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC83 Gene

Orthologs for CCDC83 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC83 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC83 30 31
  • 99.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC83 30 31
  • 86.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC83 30 31
  • 85.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc83 30
  • 76.69 (n)
Mouse
(Mus musculus)
Mammalia Ccdc83 30 17 31
  • 75.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC83 31
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC83 31
  • 45 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC83 30 31
  • 56.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC83 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc83 30
  • 50.76 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccdc83 30 31
  • 43.31 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10447 31
  • 29 (a)
OneToOne
Species where no ortholog for CCDC83 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 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 CCDC83 Gene

ENSEMBL:
Gene Tree for CCDC83 (if available)
TreeFam:
Gene Tree for CCDC83 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC83: view image

Paralogs for CCDC83 Gene

No data available for Paralogs for CCDC83 Gene

Variants for CCDC83 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC83 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs12362209 - p.Thr49Ala

Additional dbSNP identifiers (rs#s) for CCDC83 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC83 Gene

Variant ID Type Subtype PubMed ID
esv2678670 CNV deletion 23128226
esv2744853 CNV deletion 23290073
esv2759845 CNV gain+loss 17122850
esv3548087 CNV deletion 23714750
esv3627077 CNV loss 21293372
esv3627078 CNV loss 21293372
esv3627079 CNV loss 21293372
nsv1035489 CNV gain 25217958
nsv1053808 CNV gain 25217958
nsv418 CNV insertion 18451855
nsv832222 CNV gain 17160897
nsv975957 CNV duplication 23825009

Variation tolerance for CCDC83 Gene

Residual Variation Intolerance Score: 81.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.16; 75.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC83 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC83

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC83 Gene

Disorders for CCDC83 Gene

No disorders were found for CCDC83 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC83 Gene

Publications for CCDC83 Gene

  1. KP-CoT-23 (CCDC83) is a novel immunogenic cancer/testis antigen in colon cancer. (PMID: 22923163) Song MH … Lee SY (International journal of oncology 2012) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CCDC83 Gene

Sources for CCDC83 Gene