InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CC2D2A

Summary

InnateDB Protein

IDBP-363325.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CC2D2A

Protein Name

coiled-coil and C2 domain containing 2A

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000403465

InnateDB Gene

IDBG-10448 (CC2D2A)

Protein Structure

UniProt Annotation

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}.

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}.

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.

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}.

Comments

Interactions

Number of Interactions

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.