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

Aliases for C2CD3 Gene

Aliases for C2CD3 Gene

  • C2 Calcium-Dependent Domain Containing 3 2 3
  • C2 Domain-Containing Protein 3 3
  • OFD14 3

External Ids for C2CD3 Gene

Summaries for C2CD3 Gene

Entrez Gene Summary for C2CD3 Gene

  • This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for C2CD3 Gene

C2CD3 (C2 Calcium-Dependent Domain Containing 3) is a Protein Coding gene. Diseases associated with C2CD3 include orofaciodigital syndrome xiv.

UniProtKB/Swiss-Prot for C2CD3 Gene

  • Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2CD3 Gene

Genomics for C2CD3 Gene

Genomic Location for C2CD3 Gene

Start:
74,012,714 bp from pter
End:
74,171,210 bp from pter
Size:
158,497 bases
Orientation:
Minus strand

Genomic View for C2CD3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C2CD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD3 Gene

Regulatory Elements for C2CD3 Gene

Proteins for C2CD3 Gene

  • Protein details for C2CD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4AC94-C2CD3_HUMAN
    Recommended name:
    C2 domain-containing protein 3
    Protein Accession:
    Q4AC94
    Secondary Accessions:
    • C9JR55
    • E2QRD1
    • Q2NLE1
    • Q3C1U9
    • Q6ZU92
    • Q8IYM4
    • Q8NB87
    • Q8NDH7
    • Q9Y4M2

    Protein attributes for C2CD3 Gene

    Size:
    2353 amino acids
    Molecular mass:
    260389 Da
    Quaternary structure:
    • Interacts with IFT88, BBS4 and PCM1 (By similarity). Interacts with OFD1; OFD1 may act as a negative regulator of C2CD3. Associates with the BBSome complex.
    SequenceCaution:
    • Sequence=BAC03654.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC86334.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C2CD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C2CD3 Gene

Proteomics data for C2CD3 Gene at MOPED

Post-translational modifications for C2CD3 Gene

  • Was found to be N-glycosylated on Asn-1543 (PubMed:16335952). However, since it is probably cytoplasmic, N-glycosylation is highly unsure.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C2CD3 Gene

Domains for C2CD3 Gene

Protein Domains for C2CD3 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

C2CD3_HUMAN
Domain:
  • Contains 2 C2 domains.:
    • Q4AC94
genes like me logo Genes that share domains with C2CD3: view

No data available for Gene Families for C2CD3 Gene

Function for C2CD3 Gene

Molecular function for C2CD3 Gene

UniProtKB/Swiss-Prot Function: Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3.

Gene Ontology (GO) - Molecular Function for C2CD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24997988
genes like me logo Genes that share ontologies with C2CD3: view
genes like me logo Genes that share phenotypes with C2CD3: view

miRNA for C2CD3 Gene

miRTarBase miRNAs that target C2CD3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for C2CD3 Gene

Localization for C2CD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2CD3 Gene

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localizes to centrioles and procentrioles both in interphase and mitosis. Localizes to centriolar satellites, localization is dependent on PCM1 and dynein-mediated retrograde transport. Also localizes to the distal ends of the mother and daughter centrioles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C2CD3 Gene COMPARTMENTS Subcellular localization image for C2CD3 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for C2CD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IDA 23769972
GO:0005829 cytosol TAS --
GO:0034451 centriolar satellite IDA 24997988
GO:0036064 ciliary basal body IEA --
genes like me logo Genes that share ontologies with C2CD3: view

Pathways for C2CD3 Gene

SuperPathways for C2CD3 Gene

No Data Available

Interacting Proteins for C2CD3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000323339%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000313422%0d%0a
Selected Interacting proteins: ENSP00000323339 for C2CD3 Gene via STRING

Gene Ontology (GO) - Biological Process for C2CD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001947 heart looping IEA --
GO:0006996 organelle organization TAS --
GO:0007389 pattern specification process --
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with C2CD3: view

No data available for Pathways by source for C2CD3 Gene

Transcripts for C2CD3 Gene

Unigene Clusters for C2CD3 Gene

C2 calcium-dependent domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ·
SP1: - - -
SP2: - -
SP3: - - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 20c ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: -
SP2: - - - - - -
SP3:
SP4: - -
SP5: - -
SP6:
SP7:
SP8:
SP9: - - - -
SP10:

Relevant External Links for C2CD3 Gene

GeneLoc Exon Structure for
C2CD3
ECgene alternative splicing isoforms for
C2CD3

Expression for C2CD3 Gene

mRNA expression in normal human tissues for C2CD3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C2CD3 Gene

SOURCE GeneReport for Unigene cluster for C2CD3 Gene Hs.694798

genes like me logo Genes that share expressions with C2CD3: view

Orthologs for C2CD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for C2CD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2CD3 36
  • 99.48 (n)
  • 99.11 (a)
C2CD3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C2CD3 37
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2CD3 36
  • 87.95 (n)
  • 83.75 (a)
UCP3 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C2cd3 36
  • 83.47 (n)
  • 77.1 (a)
C2cd3 16
C2cd3 37
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2CD3 37
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2CD3 37
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C2cd3 36
  • 82.63 (n)
  • 76.71 (a)
chicken
(Gallus gallus)
Aves C2CD3 36
  • 60.36 (n)
  • 54 (a)
C2CD3 37
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 33 (a)
OneToMany
-- 37
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c2cd3 36
  • 54.86 (n)
  • 49.8 (a)
zebrafish
(Danio rerio)
Actinopterygii C2CD3 37
  • 37 (a)
OneToOne
si:ch211-149e23.1 36
  • 54.13 (n)
  • 46.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32425 37
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 33 (a)
OneToMany
-- 37
  • 40 (a)
OneToMany
Species with no ortholog for C2CD3:
  • 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)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C2CD3 Gene

ENSEMBL:
Gene Tree for C2CD3 (if available)
TreeFam:
Gene Tree for C2CD3 (if available)

Paralogs for C2CD3 Gene

Selected SIMAP similar genes for C2CD3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with C2CD3: view

No data available for Paralogs for C2CD3 Gene

Variants for C2CD3 Gene

Sequence variations from dbSNP and Humsavar for C2CD3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs699139 -- 74,013,790(+) tggga(C/T)gtgaa intron-variant
rs699140 -- 74,015,278(+) TTAAA(C/T)TGGGT intron-variant
rs699141 -- 74,080,349(-) GCCTT(A/C)GAGAT intron-variant
rs699142 -- 74,088,280(-) ATGGA(A/C)ATTTT intron-variant
rs826032 -- 74,066,592(+) AGAAA(A/C)GTAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C2CD3 Gene

Variant ID Type Subtype PubMed ID
esv2662605 CNV Deletion 23128226
esv2668510 CNV Deletion 23128226
esv2744773 CNV Deletion 23290073
dgv397e1 CNV Complex 17122850
nsv392 CNV Insertion 18451855
esv34979 CNV Gain 17911159

Relevant External Links for C2CD3 Gene

HapMap Linkage Disequilibrium report
C2CD3
Human Gene Mutation Database (HGMD)
C2CD3

Disorders for C2CD3 Gene

UniProtKB/Swiss-Prot

C2CD3_HUMAN
  • Orofaciodigital syndrome 14 (OFD14) [MIM:615948]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. {ECO:0000269 PubMed:24997988}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for C2CD3 Gene

Relevant External Links for C2CD3

Genetic Association Database (GAD)
C2CD3
genes like me logo Genes that share disorders with C2CD3: view

Publications for C2CD3 Gene

  1. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. (PMID: 24997988) Thauvin-Robinet C. … Nachury M.V. (Nat. Genet. 2014) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells. (PMID: 23769972) Balestra F.R. … Gonczy P. (Dev. Cell 2013) 3 4
  4. C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals. (PMID: 24469809) Ye X. … Liu A. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for C2CD3 Gene

Sources for C2CD3 Gene

Back to Top

Content