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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 FAM21C (PubMed:25355947).

Gene Wiki entry for CCDC93 Gene

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

Genomics for CCDC93 Gene

Regulatory Elements for CCDC93 Gene

Enhancers for CCDC93 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F117978 1.6 FANTOM5 Ensembl ENCODE 24 +33.4 33384 3.6 HDAC1 CBX3 TBL1XR1 RAD21 ZNF766 FOS CREM ZBTB11 NCOA1 CEBPB CCDC93 HTR5BP DDX18 GC02M117973 GC02M117974 LOC102723413
GH02F118049 0.9 Ensembl 26.2 -36.0 -36038 1.2 PKNOX1 WRNIP1 BMI1 FEZF1 ZNF366 ZEB2 TBX21 ZNF843 IKZF1 GLIS1 CCDC93 HTR5BP INSIG2 RN7SL111P
GH02F117813 1.2 ENCODE 18 +199.0 198958 3.5 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 DDX18 CCDC93 LOC102723413 HTR5BP GC02P117854
GH02F118059 1.1 Ensembl ENCODE 19 -46.4 -46438 2.8 TBL1XR1 BMI1 ZNF48 RAD21 ETV6 CREM ZNF654 CBFB CEBPB JUNB CCDC93 INSIG2 DDX18 RN7SL111P
GH02F118016 1 FANTOM5 18.9 -3.0 -2984 0.5 HDAC1 PKNOX1 HINFP DEAF1 MAX YY1 ZNF335 FOSL1 POLR2A TRIM24 CCDC93 DDX18 RN7SL111P INSIG2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC93 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC93 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000123656 163 2401 ARID4B SIN3A DMAP1 ZNF48 GLIS2 KLF13 ZNF263 SP3 SP5 MXD4

Genomic Location for CCDC93 Gene

Chromosome:
2
Start:
117,915,478 bp from pter
End:
118,014,163 bp from pter
Size:
98,686 bases
Orientation:
Minus strand

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, WASH1. Interacts directly with FAM21C. 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 Lys 601
  • 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

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

No data available for Gene Families for CCDC93 Gene

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 FAM21C (PubMed:25355947).

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

Inhibitory RNA Products

Flow Cytometry 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

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 --
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

Transcripts for CCDC93 Gene

Unigene Clusters for CCDC93 Gene

Coiled-coil domain containing 93:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with CCDC93: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia CCDC93 34 35
  • 91.92 (n)
cow
(Bos Taurus)
Mammalia CCDC93 34 35
  • 90.39 (n)
mouse
(Mus musculus)
Mammalia Ccdc93 34 16 35
  • 86.8 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc93 34
  • 86.7 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC93 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC93 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC93 34 35
  • 75.27 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC93 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc93 34
  • 69.17 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc93 34 35
  • 67.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009044 34
  • 53.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta fidipidine 34 35
  • 51.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G32560 34
  • 46.13 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2439 34
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 Sequence Context AA Info Type
VAR_035499 A colorectal cancer sample
rs1005851 -- 117,915,588(-) AAAAA(A/G)TAGTT utr-variant-3-prime
rs10167050 -- 117,997,037(+) TACTC(A/G)TGGAT intron-variant
rs10169034 -- 117,959,164(+) TTCCA(A/G)GAGGG intron-variant
rs10172254 -- 117,922,791(+) AAAGT(A/C)CAAAT 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)

Relevant External Links 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

Relevant External Links for CCDC93

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 C.A. … Burstein E. (Mol. Biol. Cell 2015) 2 3 4 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64

Products for CCDC93 Gene

Sources for CCDC93 Gene

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