| Gene Symbol |
PKD2L1
|
| Entrez Gene |
9033
|
| Alt Symbol |
PCL, PKD2L, PKDL, TRPP3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
polycystic kidney disease 2-like 1
|
| Other Description |
polycystic kidney disease 2-like 1 protein|polycystin-2 homolog|polycystin-2L1|polycystin-L|polycystin-L1|transient receptor potential cation channel, subfamily P, member 3
|
| Swissprots |
Q9UPA2 Q5W039 Q9P0L9 O75972 Q9UP35
|
| Accessions |
AAF28108 EAW49833 EAW49834 Q9P0L9 AF053316 AAD51859 AF073481 AAD41638 AF092170 AAD16101 AF094827 AAD08695 BC025665 AAH25665 DQ084244 AAZ31363 DQ891554 ABM82480 DQ894741 ABM85667 HG503202 XM_011540321 XP_011538623 XM_011540322 XP_011538624 XM_011540323 XP_011538625 XM_011540324 XP_011538626 XM_011540325 XP_011538627 XR_945861 NM_001253837 NP_001240766 NM_016112 NP_057196
|
| Function |
Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect. {ECO:0000269|PubMed:10517637, ECO:0000269|PubMed:19812697, ECO:0000269|PubMed:23212381, ECO:0000269|PubMed:24336289}.
|
| Subcellular Location |
Cell projection, cilium membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum {ECO:0000250}. Note=Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane.
|
| Tissue Specificity |
Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver. According to PubMed:9748274, expressed at high levels in fetal tissues, including kidney and liver, and down-regulated in adult tissues. According to PubMed:10602361, expressed in fetal brain, but not expressed in fetal lung, liver or kidney. Isoform 4 appears to be expressed only in transformed lymphoblasts. {ECO:0000269|PubMed:10602361, ECO:0000269|PubMed:9748274}.
|