| Gene Symbol |
PKD2
|
| Entrez Gene |
5311
|
| Alt Symbol |
APKD2, PC2, PKD4, Pc-2, TRPP2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
polycystic kidney disease 2 (autosomal dominant)
|
| Other Description |
R48321|autosomal dominant polycystic kidney disease type II protein|polycystin-2|polycystwin|transient receptor potential cation channel, subfamily P, member 2
|
| Swissprots |
Q15764 Q13563 O60441 Q2M1Q3 Q2M1Q5
|
| Accessions |
AAC16004 AAG15529 AJP06023 AJP06024 EAX06011 Q13563 AF054992 AAC09351 AF113693 AK293461 BAG56956 AK294173 BAG57494 AK294589 BAH11820 AW600307 BC111454 AAI11455 BC112261 AAI12262 BC112263 AAI12264 BQ574566 U50928 AAC50520 U56813 AAC50933 XM_011532028 XP_011530330 XM_011532029 XP_011530331 XM_011532030 XP_011530332 XR_244632 NM_000297 NP_000288
|
| Function |
Functions as a calcium permeable cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Cell projection, cilium membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
|
| Tissue Specificity |
Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes. {ECO:0000269|PubMed:8650545}.
|