Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CCDC93 Gene

Aliases for CCDC93 Gene

  • Coiled-Coil Domain Containing 93 2 3 5

External Ids for CCDC93 Gene

Previous GeneCards Identifiers for CCDC93 Gene

  • GC02M118389
  • GC02M118673
  • GC02M111000

Summaries for CCDC93 Gene

GeneCards Summary for CCDC93 Gene

CCDC93 (Coiled-Coil Domain Containing 93) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CCDC93 Gene

  • Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes and is dependent on its interaction with WASHC2C (PubMed:25355947).

Gene Wiki entry for CCDC93 Gene

Additional gene information for CCDC93 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC93 Gene

Genomics for CCDC93 Gene

GeneHancer (GH) Regulatory Elements for CCDC93 Gene

Promoters and enhancers for CCDC93 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
GH02I118012 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 562.9 +0.3 297 2.6 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B GLIS2 ZNF143 ATF7 CCDC93 GC02P118015 ENSG00000279227 HTR5BP LOC102723413 ENSG00000272895
GH02I117813 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18 +199.0 198958 3.5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 DDX18 CCDC93 LOC102723413 HTR5BP GC02P117861
GH02I117978 Enhancer 1.1 FANTOM5 Ensembl ENCODE 24 +33.4 33384 3.6 STAT1 HLF CEBPB CEBPG EP300 ZKSCAN1 SP1 JUND GATA3 POLR2A CCDC93 HTR5BP DDX18 GC02M117974 GC02M117973 LOC102723413
GH02I118084 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 -73.7 -73710 6.3 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 INSIG2 CCDC93 HTR5BP DDX18 RN7SL111P
GH02I117835 Promoter/Enhancer 1.2 Ensembl ENCODE 19.3 +178.0 177967 1.3 CTCF TFAP4 ARID4B MAX SIN3A ZNF48 RAD21 YY1 GATAD1 POLR2A CCDC93 LOC102723413 DDX18 ENSG00000236255 GC02P117861 HTR5BP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC93 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC93 gene promoter:

Genomic Locations for CCDC93 Gene

Genomic Locations for CCDC93 Gene
chr2:117,915,478-118,014,163
(GRCh38/hg38)
Size:
98,686 bases
Orientation:
Minus strand
chr2:118,673,054-118,771,739
(GRCh37/hg19)

Genomic View for CCDC93 Gene

Genes around CCDC93 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC93 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC93 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC93 Gene

Proteins for CCDC93 Gene

  • Protein details for CCDC93 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q567U6-CCD93_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 93
    Protein Accession:
    Q567U6
    Secondary Accessions:
    • A8K3V7
    • Q4LE78
    • Q53TJ2
    • Q8TBX5
    • Q9H6R5
    • Q9NV15

    Protein attributes for CCDC93 Gene

    Size:
    631 amino acids
    Molecular mass:
    73198 Da
    Quaternary structure:
    • Interacts with COMMD1, COMMD2 COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD9, COMMD10, WASHC1. Interacts directly with WASHC2C. Interacts with CCDC93 and C16orf62; proposed to be a component of the CCC (COMMD/CCDC22/CCDC93) complex which contains at least COMMD1 (and possibly other COMM domain-containing proteins), CCDC22, CCDC93 and C16orf62; in the complex interacts directly with CCDC22 (PubMed:25355947).
    SequenceCaution:
    • Sequence=BAB15188.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAE06075.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CCDC93 Gene

Post-translational modifications for CCDC93 Gene

  • Ubiquitination at Lys601
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC93 Gene

No data available for DME Specific Peptides for CCDC93 Gene

Domains & Families for CCDC93 Gene

Gene Families for CCDC93 Gene

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

Protein Domains for CCDC93 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC93 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q567U6

UniProtKB/Swiss-Prot:

CCD93_HUMAN :
  • Belongs to the CCDC93 family.
Family:
  • Belongs to the CCDC93 family.
genes like me logo Genes that share domains with CCDC93: view

Function for CCDC93 Gene

Molecular function for CCDC93 Gene

UniProtKB/Swiss-Prot Function:
Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes and is dependent on its interaction with WASHC2C (PubMed:25355947).

Phenotypes From GWAS Catalog for CCDC93 Gene

Gene Ontology (GO) - Molecular Function for CCDC93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25355947
genes like me logo Genes that share ontologies with CCDC93: view
genes like me logo Genes that share phenotypes with CCDC93: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC93 Gene

Localization for CCDC93 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC93 Gene

Early endosome.

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 CCDC93 gene
Compartment Confidence
endosome 4
nucleus 3
cytosol 2
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CCDC93: view

Pathways & Interactions for CCDC93 Gene

SuperPathways for CCDC93 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006893 Golgi to plasma membrane transport IMP 25355947
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with CCDC93: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC93 Gene

Drugs & Compounds for CCDC93 Gene

No Compound Related Data Available

Transcripts for CCDC93 Gene

Unigene Clusters for CCDC93 Gene

Coiled-coil domain containing 93:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC93 Gene

No ASD Table

Relevant External Links for CCDC93 Gene

GeneLoc Exon Structure for
CCDC93
ECgene alternative splicing isoforms for
CCDC93

Expression for CCDC93 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC93 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC93 Gene

This gene is overexpressed in Heart (13.9), Peripheral blood mononuclear cells (8.9), and Lymph node (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC93 Gene



Protein tissue co-expression partners for CCDC93 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC93 Gene:

CCDC93

SOURCE GeneReport for Unigene cluster for CCDC93 Gene:

Hs.107845

Evidence on tissue expression from TISSUES for CCDC93 Gene

  • Lung(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with CCDC93: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC93 Gene

Orthologs for CCDC93 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCDC93 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC93 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia CCDC93 33 34
  • 91.92 (n)
cow
(Bos Taurus)
Mammalia CCDC93 33 34
  • 90.39 (n)
mouse
(Mus musculus)
Mammalia Ccdc93 33 16 34
  • 86.8 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc93 33
  • 86.7 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC93 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC93 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC93 33 34
  • 75.27 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC93 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc93 33
  • 69.17 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc93 33 34
  • 67.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009044 33
  • 53.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta fidipidine 33 34
  • 51.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G32560 33
  • 46.13 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2439 33
Species where no ortholog for CCDC93 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC93 Gene

ENSEMBL:
Gene Tree for CCDC93 (if available)
TreeFam:
Gene Tree for CCDC93 (if available)

Paralogs for CCDC93 Gene

Pseudogenes.org Pseudogenes for CCDC93 Gene

genes like me logo Genes that share paralogs with CCDC93: view

No data available for Paralogs for CCDC93 Gene

Variants for CCDC93 Gene

Sequence variations from dbSNP and Humsavar for CCDC93 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
VAR_035499 A colorectal cancer sample p.His315Arg
rs1000022072 -- 118,012,946(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000031782 -- 117,978,321(-) T/C intron_variant
rs1000042314 -- 117,992,155(-) C/T intron_variant
rs1000072122 -- 117,927,642(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC93 Gene

Variant ID Type Subtype PubMed ID
esv2177498 CNV deletion 18987734
nsv1013065 CNV gain 25217958
nsv1114128 CNV deletion 24896259
nsv1136400 CNV deletion 24896259
nsv515493 CNV loss 19592680
nsv999434 CNV gain 25217958

Variation tolerance for CCDC93 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.57; 72.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC93 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC93

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC93 Gene

Disorders for CCDC93 Gene

Additional Disease Information for CCDC93

No disorders were found for CCDC93 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC93 Gene

Publications for CCDC93 Gene

  1. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak CA … Burstein E (Molecular biology of the cell 2015) 2 3 4 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CCDC93 Gene

Sources for CCDC93 Gene

Content
Loading form....