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

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

中文名称:polycystin 2 like 1,瞬时受体电位阳离子通道

种属: Homo sapiens

同用名: PCL; PKDL; PKD2L; TRPP3

基因 ID: 9033 | 基因类型: protein coding

关于 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.

功能概要

该基因编码多囊蛋白家族的一个成员。编码的蛋白质包含多个跨膜结构域以及细胞质 N 和 C 末端。该蛋白质可以是参与细胞-细胞/基质相互作用的整合膜蛋白。这种蛋白质起钙调节的非选择性阳离子通道的作用。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2011 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables alpha-actinin binding IPI
IPI: 通过物理相互作用推断
17944866 GOA
enables calcium channel activity IDA
IDA: 通过直接分析推断
24336289 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
22193359 GOA
enables calcium-activated cation channel activity IDA
IDA: 通过直接分析推断
10517637 GOA
enables calcium-activated potassium channel activity IDA
IDA: 通过直接分析推断
10517637 GOA
enables cytoskeletal protein binding IPI
IPI: 通过物理相互作用推断
12809519 GOA
enables monoatomic cation channel activity IDA
IDA: 通过直接分析推断
17944866 GOA
enables muscle alpha-actinin binding IPI
IPI: 通过物理相互作用推断
17944866 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12525172 GOA
enables sodium channel activity IDA
IDA: 通过直接分析推断
10517637 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in inorganic cation transmembrane transport IDA
IDA: 通过直接分析推断
30004384 GOA
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
10517637 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
30004384 GOA
involved in sensory perception of sour taste IMP
IMP: 通过突变表型推断
19812697 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
10517637 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of calcium channel complex IDA
IDA: 通过直接分析推断
24336289 GOA
located in intracellular membrane-bounded organelle IDA
IDA: 通过直接分析推断
17944866 GOA
located in membrane IDA
IDA: 通过直接分析推断
19812697 GOA
located in non-motile cilium IDA
IDA: 通过直接分析推断
24336289 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20538909 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
17944866 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PKD2L1 蛋白结构

PKD_channel

PKD_channel: Polycystin cation channel (147 - 567)

  • 0
  • 200
  • 400
  • 600
  • 805 a.a.
蛋白主名 其他名称

polycystic kidney disease 2-like 1 protein

polycystin-2 homolog

关联疾病

疾病名称 别名
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

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
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