PKD2L1 - polycystin 2 like 1, transient receptor potential cation channel Gene
Also Known as PCL; PKDL; PKD2L; TRPP3
Species: Homo sapiens
About PKD2L1
This gene has 4 transcripts (splice variants), 191 orthologues and 10 paralogues. Biased expression in spleen (RPKM 1.0), testis (RPKM 0.9) and 7 other tissues.
Summary
This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PKD2L1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001253837.2 | NP_001240766.1 | polycystic kidney disease 2-like 1 protein isoform 2 |
| NM_016112.3 | NP_057196.2 | polycystic kidney disease 2-like 1 protein isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables alpha-actinin binding |
IPI
IPI: Inferred from physical interaction
|
17944866 | GOA |
| enables calcium channel activity |
IDA
IDA: Inferred from direct assay
|
24336289 | GOA |
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
22193359 | GOA |
| enables calcium-activated cation channel activity |
IDA
IDA: Inferred from direct assay
|
10517637 | GOA |
| enables calcium-activated potassium channel activity |
IDA
IDA: Inferred from direct assay
|
10517637 | GOA |
| enables cytoskeletal protein binding |
IPI
IPI: Inferred from physical interaction
|
12809519 | GOA |
| enables monoatomic cation channel activity |
IDA
IDA: Inferred from direct assay
|
17944866 | GOA |
| enables muscle alpha-actinin binding |
IPI
IPI: Inferred from physical interaction
|
17944866 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12525172 | GOA |
| enables sodium channel activity |
IDA
IDA: Inferred from direct assay
|
10517637 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in inorganic cation transmembrane transport |
IDA
IDA: Inferred from direct assay
|
30004384 | GOA |
| involved in potassium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
10517637 | GOA |
| involved in protein homotetramerization |
IDA
IDA: Inferred from direct assay
|
30004384 | GOA |
| involved in sensory perception of sour taste |
IMP
IMP: Inferred from mutant phenotype
|
19812697 | GOA |
| involved in sodium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
10517637 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of calcium channel complex |
IDA
IDA: Inferred from direct assay
|
24336289 | GOA |
| located in intracellular membrane-bounded organelle |
IDA
IDA: Inferred from direct assay
|
17944866 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
19812697 | GOA |
| located in non-motile cilium |
IDA
IDA: Inferred from direct assay
|
24336289 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
20538909 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
17944866 | GOA |
PKD2L1 Protein Structure
PKD_channel: Polycystin cation channel (147 - 567)
- 0
- 200
- 400
- 600
- 805 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
polycystic kidney disease 2-like 1 protein |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Kidney Disease |
|
|
| Polycystic Kidney Disease |
|
|
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
|
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Cystic Kidney Disease |
|
|
| Polycystic Liver Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | PKD2L1 | VGNC | VGNC:76008 |
| Rattus norvegicus | PKD2L1 | RGD | RGD:1306261 |
| Felis catus | PKD2L1 | VGNC | VGNC:68872 |
| Canis familiaris | PKD2L1 | VGNC | VGNC:44601 |
| Bos taurus | PKD2L1 | VGNC | VGNC:32936 |
| Mus musculus | PKD2L1 | MGD | MGI:1352448 |
| Others | PKD2L1 | NCBI |