1. Gene
  2. PKD1L2 - polycystin 1 like 2 (gene/pseudogene) Gene

PKD1L2 - polycystin 1 like 2 (gene/pseudogene) Gene

Homo sapiens

Also known as PC1L2

Gene ID: 114780 | Gene type: protein coding

About PKD1L2

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,100,875-81,220,394 (from NCBI)

This gene has 11 transcripts (splice variants), 309 orthologues and 10 paralogues. Biased expression in fat (RPKM 3.7), heart (RPKM 1.2) and 7 other tissues.

Summary

This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, Lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022]

PKD1L2 Products(4)

mRNA Protein Name
NM_001076780.3 NP_001070248.2 polycystic kidney disease protein 1-like 2 isoform c precursor
NM_001278423.2 NP_001265352.1 polycystic kidney disease protein 1-like 2 isoform e
NM_001278425.3 NP_001265354.2 polycystic kidney disease protein 1-like 2 isoform d
NM_052892.5 NP_443124.4 polycystic kidney disease protein 1-like 2 isoform a precursor
Protein Preferred Names Protein Names

polycystic kidney disease protein 1-like 2

PC1-like 2 protein

Related Diseases

Diseases Alias
Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

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

Conduct Disorder
Macular Degeneration, Age-Related, 10

ARMD10

Age Related Macular Degeneration 10

Macular Degeneration, Age-Related, Type 10

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]

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

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

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
Rattus norvegicus PKD1L2 RGD RGD:1588631
Mus musculus PKD1L2 MGD MGI:2664668
Canis familiaris PKD1L2 VGNC VGNC:56013