Gene Symbol |
CC2D2A
|
Entrez Gene |
57545
|
Alt Symbol |
JBTS9, MKS6
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
coiled-coil and C2 domain containing 2A
|
Other Description |
coiled-coil and C2 domain-containing protein 2A
|
Swissprots |
E9PEV5 Q3SYP3 E7EP21 D6RB72 Q9H8A7 Q9P2K1 B3FW08 A6ND97
|
Accessions |
CCQ43067 EAW92734 Q9P2K1 AA441801 AB037766 BAA92583 AB384183 BAG10039 AI376394 AK023876 BAB14710 AK025543 AK096047 AK309178 BC053865 BC061921 BC070395 BC103710 AAI03711 BX647334 CF528984 DA860072 DB043556 EU450799 ACC96081 N35522 XM_005248177 XP_005248234 XM_011513869 XP_011512171 XM_011513870 XP_011512172 XM_011513871 XP_011512173 XM_011513872 XP_011512174 XM_011513873 XP_011512175 XM_011513874 XP_011512176 NM_001080522 NP_001073991 NM_001164720 NP_001158192 NM_020785 NP_065836
|
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 Location |
Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
|
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:0000269|PubMed:18387594, ECO:0000269|PubMed:18950740}.
|