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

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

中文名称:多囊蛋白 1 like 2 (基因/假基因)

种属: Homo sapiens

同用名: PC1L2

基因 ID: 114780 | 基因类型: protein coding

关于 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.

功能概要

该基因编码多囊蛋白家族的一个成员。该蛋白可作为 G 蛋白偶联成分或阳离子通道孔调节剂发挥作用。这种蛋白质的长异构体包含 11 个跨膜结构域、一个 latrophilin/CL-1 样 GPCR 蛋白水解位点 (GPS) 结构域和一个多囊蛋白-1、脂氧合酶、α-毒素 (PLAT) 结构域。可变剪接导致编码不同异构体的多个转录变体。该基因是人类的多态性假基因。[RefSeq 提供,2022 年 5 月]

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 基因产物(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
蛋白主名 其他名称

polycystic kidney disease protein 1-like 2

PC1-like 2 protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PKD1L2 RGD RGD:1588631
Mus musculus PKD1L2 MGD MGI:2664668
Canis familiaris PKD1L2 VGNC VGNC:56013