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Aliases for C2CD3 Gene

Aliases for C2CD3 Gene

  • C2 Calcium Dependent Domain Containing 3 2 3 5
  • C2 Domain-Containing Protein 3 3
  • OFD14 3

External Ids for C2CD3 Gene

Previous GeneCards Identifiers for C2CD3 Gene

  • GC11M073424
  • GC11M073724
  • GC11M070041

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 and Spinocerebellar Ataxia 29, Congenital Nonprogressive. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

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

Regulatory Elements for C2CD3 Gene

Enhancers for C2CD3 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
GH11F074133 1.3 Ensembl ENCODE 15.1 +33.0 32953 10.2 PKNOX1 ARID4B BRCA1 GLIS2 FOS ZNF263 REST MEF2D MIER3 SMARCA4 PPME1 P4HA3 C2CD3 UCP2 UCP3 ENSG00000206913 ENSG00000256098
GH11F074169 1.1 ENCODE 8.3 -0.3 -250 3.5 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A YBX1 DMAP1 YY1 ENSG00000206913 RNF169 P4HA3 PPME1 ENSG00000257038 POLD3 COA4 PAAF1 RPS12P22 C2CD3
GH11F074179 0.9 ENCODE 8 -8.3 -8331 0.7 ZNF316 JUND NFE2L1 NFE2 FOS MAFK NFE2L2 ENSG00000206913 C2CD3 PPME1 GC11P074171 RNA5SP343
GH11F074149 0.5 FANTOM5 6.9 +21.9 21883 0.3 ZNF263 GATA2 PRDM10 C2CD3 PPME1 ENSG00000256098
GH11F074037 0.5 ENCODE 6.4 +133.7 133736 0.7 ELF3 SOX13 SAP130 ZNF644 ZSCAN9 TEAD3 RARA NR2F6 FOS CREM UCP2 ENSG00000255847 UCP3 ENSG00000206913 C2CD3 ENSG00000256098
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C2CD3 on UCSC Golden Path with GeneCards custom track

Promoters for C2CD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110532 210 3601 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A YBX1 DMAP1 YY1

Genomic Location for C2CD3 Gene

Chromosome:
11
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

Genes around C2CD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for C2CD3 Gene

Gene Families for C2CD3 Gene

Protein Domains for C2CD3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q4AC94

UniProtKB/Swiss-Prot:

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

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

Human Phenotype Ontology for C2CD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for C2CD3 Gene

miRTarBase miRNAs that target C2CD3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 5
nucleus 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for C2CD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA,IDA 23769972
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with C2CD3: view

Pathways & Interactions for C2CD3 Gene

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

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: Q4AC94-C2CD3_HUMAN ENSP00000323339 for C2CD3 Gene via IID 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:0007389 pattern specification process IEA --
GO:0007420 brain development IEA --
GO:0008589 regulation of smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with C2CD3: view

No data available for SIGNOR curated interactions for C2CD3 Gene

Transcripts for C2CD3 Gene

Unigene Clusters for C2CD3 Gene

C2 calcium-dependent domain containing 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for C2CD3 Gene

Protein differential expression in normal tissues from HIPED for C2CD3 Gene

This gene is overexpressed in Bone (39.9), Bone marrow stromal cell (16.6), and Fetal gut (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C2CD3 Gene



Protein tissue co-expression partners for C2CD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of C2CD3 Gene:

C2CD3

SOURCE GeneReport for Unigene cluster for C2CD3 Gene:

Hs.694798
genes like me logo Genes that share expression patterns with C2CD3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C2CD3 Gene

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 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia C2CD3 34
  • 87.95 (n)
UCP3 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C2cd3 34 16 35
  • 83.47 (n)
rat
(Rattus norvegicus)
Mammalia C2cd3 34
  • 82.63 (n)
cow
(Bos Taurus)
Mammalia C2CD3 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2CD3 35
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2CD3 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2CD3 34 35
  • 60.36 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 55 (a)
OneToMany
-- 35
  • 33 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c2cd3 34
  • 54.86 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-149e23.1 34
  • 54.13 (n)
C2CD3 35
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32425 35
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
-- 35
  • 33 (a)
OneToMany
Species where no ortholog for C2CD3 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs587777654 Orofaciodigital syndrome 14 (OFD14) [MIM:615948], Pathogenic 74,095,303(+) ATAAC(A/C)ATCTG nc-transcript-variant, reference, missense
rs149366137 Pathogenic 74,084,972(+) CTTGC(A/T)GTTAA splice-acceptor-variant
rs150291837 Pathogenic 74,049,431(+) TCTGC(C/T)CCTGG nc-transcript-variant, downstream-variant-500B, reference, missense
rs587777653 Pathogenic 74,168,485(+) CACTC(A/G)GACAA nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs863225151 Pathogenic 74,074,252(-) GAAAG(G/T)TATGC splice-donor-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
esv2759837 CNV gain 17122850
esv3328087 CNV insertion 20981092
esv34979 CNV gain 17911159
esv3626828 CNV loss 21293372
esv3626829 CNV loss 21293372
esv3626830 CNV gain 21293372
nsv1069610 CNV deletion 25765185
nsv392 CNV insertion 18451855
nsv525322 CNV gain 19592680

Variation tolerance for C2CD3 Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.83; 98.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C2CD3 Gene

Human Gene Mutation Database (HGMD)
C2CD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD3 Gene

Disorders for C2CD3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for C2CD3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome xiv
  • orofaciodigital syndrome type 14
spinocerebellar ataxia 29, congenital nonprogressive
  • spinocerebellar ataxia 29
joubert syndrome 1
  • joubert syndrome
joubert syndrome with oculorenal anomalies
  • joubert syndrome 5
orofaciodigital syndrome
  • orofaciodigital syndrome i
- elite association - COSMIC cancer census association via MalaCards
Search C2CD3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for C2CD3

Genetic Association Database (GAD)
C2CD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2CD3
genes like me logo Genes that share disorders with C2CD3: view

No data available for Genatlas for C2CD3 Gene

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 64
  2. 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 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. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for C2CD3 Gene

Sources for C2CD3 Gene

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