1. Gene
  2. TRPC6 - transient receptor potential cation channel subfamily C member 6 Gene

TRPC6 - transient receptor potential cation channel subfamily C member 6 Gene

中文名称:瞬时受体电位阳离子通道亚家族 C 成员 6

种属: Homo sapiens

同用名: TRP6; FSGS2

基因 ID: 7225 | 基因类型: protein coding

关于 TRPC6

Cytogenetic location: 11q22.1 Genomic coordinates (GRCh38): 11:101,451,564-101,584,007 (from NCBI)

This gene has 7 transcripts (splice variants), 264 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 7.7), lung (RPKM 7.3) and 18 other tissues.

功能概要

由该基因编码的蛋白质在细胞膜中形成受体激活的钙通道。该通道由甘油二酯激活,并被认为受磷脂酰肌醇第二信使系统的控制。该通道的激活独立于蛋白激酶 C 而发生,并且不会由低水平的细胞内钙触发。该基因的缺陷是局灶性节段性肾小球硬化 2 (FSGS2) 的一个原因。[RefSeq 提供,2009 年 3 月]

The protein encoded by this gene forms a receptor-activated Calcium Channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]

TRPC6 基因产物(1)

mRNA Protein Name
NM_004621.6 NP_004612.2 short transient receptor potential channel 6
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 inositol 1,4,5 trisphosphate binding IDA
IDA: 通过直接分析推断
14505576 GOA
enables monoatomic cation channel activity IDA
IDA: 通过直接分析推断
19936226 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15757897 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
23291369 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within positive regulation of calcium ion transport IDA
IDA: 通过直接分析推断
10998353 GOA
acts upstream of or within positive regulation of ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
10998353 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23171048 GOA
located in membrane IDA
IDA: 通过直接分析推断
23171048 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10998353 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

TRPC6 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (105 - 183)

TRP_2

TRP_2: Transient receptor ion channel II (253 - 315)

Ion_trans

Ion_trans: Ion transport protein (497 - 727)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 931 a.a.
蛋白主名 其他名称

short transient receptor potential channel 6

TRP-6

TRPC6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TRPC6 Q9Y210 MX1 Homo sapiens P20591 15757897
种属内
TRPC6 Q9Y210 MX1 Homo sapiens P20591 15757897
种属内
TRPC6 Q9Y210 MX1 Homo sapiens P20591
Y2H
15757897
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Focal Segmental Glomerulosclerosis 2

FSGS2

Glomerulosclerosis, Focal Segmental, 2

Glomerulosclerosis, Segmental, Focal, Type 2

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Hypothalamic Neoplasm

Hypothalamic Neoplasms

Neoplasm Of The Hypothalamus

Tumor Of Hypothalamus

Diencephalic Neoplasm

Malignant Diencephalic Neoplasm

Malignant Diencephalic Tumor

Tumor Of Diencephalon

Pyloric Stenosis
End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

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

Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome

Nephrosis, Congenital

Finnish Congenital Nephrotic Syndrome

Focal Segmental Glomerulosclerosis 5

FSGS5

Glomerulosclerosis, Focal Segmental, 5

Glomerulosclerosis, Segmental, Focal, Type 5

Glomerulonephritis

Bright'S Disease

Progressive Familial Heart Block

Hereditary Bundle Branch Defect

Hereditary Bundle Branch System Defect

Familial Lenegre Disease

Familial Lev Disease

Familial Lev-Lenegre Disease

Familial Pccd

Familial Progressive Heart Block

Pfhb

Bundle Branch Block

Hbbd

Lenegre Lev Disease

Lev Syndrome

Lev'S Disease

Lev-Lenègre Disease

Pccd

Progressive Cardiac Conduction Defect

Bundle-Branch Block

Frasier Syndrome

FS

Lipoid Nephrosis

Minimal Change Disease

Minimal Change Glomerulonephritis

Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis

Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome

Idiopathic Minimal Change Nephrotic Syndrome

Mcns

Minimal Change Glomerulopathy

Minimal Change Nephrotic Syndrome

Nephrotic Syndrome Minimal Change

Nephrosis, Lipoid

Glomerulonephritis, Minimal Change

Nephrotic Syndrome, Minimal Change

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

Immunodeficiency 10

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2

Combined Immunodeficiency Due To Stim1 Deficiency

IMD10

Stim1 Deficiency

Cid Due To Stim1 Deficiency

Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2

Immunodeficiency, Type 10

Denys-Drash Syndrome

Drash Syndrome

DDS

Nephropathy, Wilms Tumor, And Genital Anomalies

Wilms Tumor And Pseudohermaphroditism

Wilms Tumor And Pseudo- Or True Hermaphroditism

Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor

Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor

Wilms Tumor-Dsd Syndrome

Wilms Tumor-Disorder Of Sex Development Syndrome

Autoimmune Glomerulonephritis
T Cell And Nk Cell Immunodeficiency
Nail-Patella Syndrome

Turner-Kieser Syndrome

Onychoosteodysplasia

Fong Disease

NPS

Hereditary Onycho-Osteodysplasia

Nps1

Hereditary Onychoostedysplasia

Iliac Horn Syndrome

Nail Patella Syndrome

Turner-Kiser Syndrome

Arthro-Onychodysplasia

Nps 1

Osteo-Onychodysplasia

Hereditary Osteo-Onychodysplasia

Osterreicher Syndrome

Pelvic Horn Syndrome

Österreicher-Turner Syndrome

Nps - [Nail-Patella Syndrome]

Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Familial Episodic Pain Syndrome

Feps

Hypertrophic Pyloric Stenosis

Congenital Hypertrophic Pyloric Stenosis

Pyloric Stenosis, Hypertrophic

Congenital Or Infantile Stricture Of Pylorus

Achalasia Of The Pylorus

Congenital Hypertrophy Of The Pylorus

Infantile Hypertrophy Of The Pylorus

Infantile Constriction Of The Pylorus

Congenital Stenosis Of The Pylorus

Congenital Constriction Of The Pylorus

Congenital Stricture Of The Pylorus

Infantile Hypertrophic Pyloric Stenosis

Infantile Stenosis Of The Pylorus

Infantile Stricture Of The Pylorus

Congenital Or Infantile Constriction Of Pylorus

Infantile Pyloric Obstruction

Infantile Pyloric Hypertrophy

Pylorus Achalasia

Pyloric Constriction

Infantile Pyloric Stricture

Infantile Pyloric Stenosis

Congenital Spasm Of Pylorus

Congenital Pylorospasm

Congenital Pyloric Stricture

Congenital Pyloric Spasm

Congenital Or Infantile Spasm Of Pylorus

Congenital Or Infantile Obstruction Of Pylorus

Congenital Pyloric Stenosis

Retinitis Pigmentosa 36

RP36

Retinitis Pigmentosa-36

Retinitis Pigmentosa, Type 36

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

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

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

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
Bos taurus TRPC6 VGNC VGNC:36386
Felis catus TRPC6 VGNC VGNC:66586
Macaca mulatta TRPC6 VGNC VGNC:78654
Rattus norvegicus TRPC6 RGD RGD:619788
Canis familiaris TRPC6 VGNC VGNC:47871
Mus musculus TRPC6 MGD MGI:109523
Others TRPC6 NCBI
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