InnateDB Protein
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IDBP-475208.4
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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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CC2D2A
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Protein Name
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coiled-coil and C2 domain containing 2A
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000421809
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InnateDB Gene
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IDBG-10448 (CC2D2A)
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Protein Structure
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Function |
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
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Disease Associations |
Meckel syndrome 6 (MKS6) [MIM:612284]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269PubMed:19466712}. Note=The disease is caused by mutations affecting the gene represented in this entry.Joubert syndrome 9 (JBTS9) [MIM:612285]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:18387594, ECO:0000269PubMed:18950740, ECO:0000269PubMed:19777577, ECO:0000269PubMed:22425360, ECO:0000269PubMed:23012439}. Note=The disease is caused by mutations affecting the gene represented in this entry.COACH syndrome (COACHS) [MIM:216360]: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. {ECO:0000269PubMed:19574260}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart. {ECO:0000269PubMed:18387594, ECO:0000269PubMed:18950740}.
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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.
They are also associated with 4 interaction(s) predicted by orthology.
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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Predicted by orthology |
Total |
4 [view]
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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 |
Q9P2K1
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PhosphoSite |
PhosphoSite-Q9P2K1
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TrEMBL |
D6R9V3
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UniProt Splice Variant |
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Entrez Gene |
57545
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UniGene |
Hs.590928
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RefSeq |
NP_001073991
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HUGO |
HGNC:29253
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OMIM |
612013
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CCDS |
CCDS47026
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HPRD |
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IMGT |
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EMBL |
AB037766
AC007016
AC116651
AK023876
BC053865
BC070395
BC103710
CH471069
EU450799
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GenPept |
AAI03711
ACC96081
BAA92583
BAB14710
EAW92734
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