PKD2L1 - polycystin 2 like 1, transient receptor potential cation channel Gene

Also Known as PCL; PKDL; PKD2L; TRPP3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9033

About PKD2L1

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,288,149-100,330,228 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PKD2L1 Protein Structure

PKD_channel

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

  • polycystin-2 homolog

Related Diseases

Diseases Alias
Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 1

  • PKD1

  • Adpkd

  • Polycystic Kidney Disease, Adult, Type I

  • Apkd1

  • Potter Type Iii Polycystic Kidney Disease

  • Polycystic Kidney Disease, Adult

  • Potter Type Iii Polycystic Kidney Disease, Formerly

  • Polycystic Kidney Disease, Type 1

  • Adpkd1

  • Adult Polycystic Kidney Disease Type 1

  • Autosomal Dominant Polycystic Kidney Disease 1

  • Pkd-1

  • Polycystic Kidney Disease Adult

  • Polycystic Kidney Disease Type I

  • Polycystic Kidneys

  • Polycystic Kidney Disease, Adult Type I

  • Polycystic Kidney Type 1 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 1

  • Polycystic Kidney, Autosomal Dominant

  • Polycystic Kidney, Type 1 Autosomal Dominant Disease

  • Polycystic Kidney Diseases

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 2

  • PKD2

  • Polycystic Kidney Disease, Adult, Type Ii

  • Apkd2

  • Polycystic Kidney Disease, Type 2

  • Adpkd2

  • Adult Polycystic Kidney Disease Type 2

  • Autosomal Dominant Polycystic Kidney Disease 2

  • Pkd-2

  • Polycystic Kidney Disease Adult Type Ii

  • Polycystic Kidney Type 2 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 2

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Cystic Kidney Disease
  • Renal Cyst

  • Simple Renal Cyst

  • Kidney Cysts

  • Kidney Diseases, Cystic

  • Renal Cysts

  • Kidney Cyst

  • Cystic Kidney

  • Congenital Cystic Kidney Disease

  • Cystic Kidney Diseases

  • Bosniak 1 Cyst

Polycystic Liver Disease
  • Autosomal Dominant Polycystic Liver Disease

  • Isolated Polycystic Liver Disease

  • Pcld

  • Congenital Cystic Liver Disease

  • Congenital Hepatic Cyst

  • Fibrocystic Liver Disease

  • Isolated Autosomal Dominant Polycystic Liver Disease

  • Adpcld

  • Liver Disease, Polycystic

  • Multiple Cysts Of Liver

  • Pld - [Polycystic Liver Disease]

  • Polycystic Liver Disorder

  • Polycystic Liver

  • Congenital Polycystic Disease Of Liver

  • Congenital Polycystic Liver Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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