InnateDB Protein
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IDBP-64126.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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C2CD3
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Protein Name
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C2 calcium-dependent domain containing 3
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Synonyms
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OFD14;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000334379
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InnateDB Gene
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IDBG-64136 (C2CD3)
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Protein Structure
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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. {ECO:0000269PubMed:23769972, ECO:0000269PubMed:24997988}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269PubMed:23769972, ECO:0000269PubMed:24997988}. 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.
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Disease Associations |
Note=Orofaciodigital syndrome (OFDS), a heterogeneous disease characterized by abnormalities in the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. Patients with C2CD3-related OFDS present with severe microcephaly, cerebralmalformations including the molar tooth sign, and intellectual disability in addition to canonical OFDS features. The disease is caused by mutations affecting the gene represented in this entry (PubMed:24997988). {ECO:0000269PubMed:24997988}.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000008
C2 domain
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PFAM |
PF00168
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PRINTS |
PR00360
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PIRSF |
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SMART |
SM00239
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TIGRFAMs |
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Modification |
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SwissProt |
Q4AC94
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PhosphoSite |
PhosphoSite-Q4AC94
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
26005
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UniGene |
Hs.694798
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RefSeq |
NP_001273506
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HUGO |
HGNC:24564
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OMIM |
615944
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CCDS |
CCDS66167
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HPRD |
16811
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IMGT |
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EMBL |
AB231763
AB231764
AK091397
AK125894
AL080220
AL833903
AP000577
AP002392
AP003717
BC035599
BC110508
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GenPept |
AAH35599
AAI10509
BAC03654
BAC86334
BAE17137
BAE46898
CAB45779
CAD38759
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