1. Gene
  2. TRPM6 - transient receptor potential cation channel subfamily M member 6 Gene

TRPM6 - transient receptor potential cation channel subfamily M member 6 Gene

中文名称:瞬时受体电位阳离子通道亚家族 M 成员 6

种属: Homo sapiens

同用名: HSH; HMGX; HOMG; CHAK2; HOMG1

基因 ID: 140803 | 基因类型: protein coding

关于 TRPM6

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:74,722,495-74,887,921 (from NCBI)

This gene has 5 transcripts (splice variants), 221 orthologues, 7 paralogues and is associated with 2 phenotypes. Biased expression in colon (RPKM 8.1), small intestine (RPKM 3.5) and 5 other tissues.

功能概要

该基因主要在肾脏和结肠中表达,并编码含有离子通道结构域和蛋白激酶结构域的蛋白质。它对镁稳态至关重要,并且在上皮镁转运以及肠道和肾脏的主动镁吸收中起着重要作用。该基因的突变与低镁血症和继发性低钙血症有关。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2010 年 4 月]

This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]

TRPM6 基因产物(3)

mRNA Protein Name
NM_001177310.2 NP_001170781.1 transient receptor potential cation channel subfamily M member 6 isoform b
NM_001177311.2 NP_001170782.1 transient receptor potential cation channel subfamily M member 6 isoform c
NM_017662.5 NP_060132.3 transient receptor potential cation channel subfamily M member 6 isoform a
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 calcium ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
14576148 GOA
enables magnesium ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
14576148 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16636202 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
14576148 GOA
involved in magnesium ion transmembrane transport IDA
IDA: 通过直接分析推断
14576148 GOA
involved in response to toxic substance IDA
IDA: 通过直接分析推断
17575980 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
14576148 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

TRPM6 蛋白结构

Alpha_kinase

Alpha_kinase: Alpha-kinase family (1776 - 1972)

  • 0
  • 400
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  • 1600
  • 2022 a.a.
蛋白主名 其他名称

transient receptor potential cation channel subfamily M member 6

channel kinase 2

关联疾病

疾病名称 别名
Hypomagnesemia 1, Intestinal

Intestinal Hypomagnesemia 1

HOMG1

Hypomagnesemia With Secondary Hypocalcemia

Hsh

Hypomagnesemic Tetany

Intestinal Hypomagnesemia With Secondary Hypocalcemia

Homg

Hypomagnesemia Caused By Selective Magnesium Malabsorption

Hypomagnesemia Intestinal Type 1

Primary Hypomagnesemia With Secondary Hypocalcemia

Phsh

Hypomagnesemia, Intestinal, With Secondary Hypocalcemia

Familial Primary Hypomagnesemia With Hypocalcuria

Hypomagnesemia 1

Hypomagnesmic Tetany

Primary Hypomagnesemia

Familial Primary Hypomagnesemia

Homg

Primary Familial Hypomagnesemia

Genetic Primary Hypomagnesemia

Hypomagnesemia 1, Intestinal

Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia

Autosomal Dominant Hypocalcemia 1

HYPOC1

Hypocalcemia, Autosomal Dominant

Hypercalciuric Hypocalcemia

Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

Familial Hypocalcemia

Hypocalcemia, Familial

Hypoc

Adh

Autosomal Dominant Hypoparathyroidism

Familial Hypercalciuric Hypocalcemia

Ad Hypocalcemia

Autosomal Dominant Hypocalcemia With Bartter Syndrome

Hypoparathyroidism - Autosomal Dominant

Hypocalcemia

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Hypomagnesemia 3, Renal

HOMG3

Renal Hypomagnesemia 3

Fhhnc Without Severe Ocular Involvement

Renal Hypomagnesemia Type 3

Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium

Hypomagnesemia, Isolated Renal

Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis

Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Isolated Renal Hypomagnesemia

Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium

Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Hypomagnesemia 3

Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis

Fhhnc

Hhn

Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis

Hypomagnesemia, Type 3, Renal

Primary Hypomagnesemia

Hypomagnesemia 4, Renal

Renal Hypomagnesemia 4

HOMG4

Hypomagnesemia, Renal, Normocalciuric

Hypomagnesemia 4

Renal Hypomagnesemia Normocalciuric

Hypomagnesemia, Type 4, Renal

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance

Sesame Syndrome

East Syndrome

SESAMES

Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance

Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome

Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome

Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy

Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance

Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome

Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome

Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance

Epilepsy Ataxia Sensorineural Deafness And Tubulopathy

Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome

Pontocerebellar Hypoplasia, Type 7

Pontocerebellar Hypoplasia Type 7

PCH7

Pontocerebellar Hypoplasia-46,Xy Disorder Of Sex Development Syndrome

Pontocerebellar Hypoplasia 7

Hypoplasia, Pontocerebellar, Type 7

Luminal Breast Carcinoma B

Luminal B Breast Carcinoma

Gitelman Syndrome

Familial Hypokalemia-Hypomagnesemia

Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria

Potassium And Magnesium Depletion

GTLMNS

Gitelman'S Syndrome

Gs

Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria

Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria

Bartter Syndrome Gitelman Variant

Bartter Syndrome Hypocalciuric Variant

Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria

Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes

Spondyloepimetaphyseal Dysplasia, Pakistani Type

Spondyloepimetaphyseal Dysplasia, Papss2 Type

BCYM4

Semd, Pakistani Type

Spondylodysplasia And Premature Pubarche

Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes

Spondyloepimetaphyseal Dysplasia Pakistani Type

Semd Pakistani Type

Spondylometaepiphyseal Dysplasia Pakistani Type

Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Bartter Syndrome, Type 3

Bartter Disease Type 3

BARTS3

Bartter Syndrome Type 3

Bartter Syndrome, Classic

Classic Bartter Syndrome

Bartter Syndrome Classic

Bartter Syndrome Type Iii

Bartter Syndrome 3

Spina Bifida Occulta
Bartter Disease

Bartter Syndrome

Bartter'S Syndrome

Aldosteronism With Hyperplasia Of The Adrenal Cortex

Hypokalemic Alkalosis With Hypercalciuria

Potassium Wasting

Juxtaglomerular Hyperplasia With Secondary Aldosteronism

Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

Salt-Losing Tubular Disorder, Henle'S Loop Type

Salt-Wasting Tubulopathy, Henle'S Loop Type

Bartters Syndrome

Mucolipidosis Iv

Mucolipidosis Type Iv

ML4

Sialolipidosis

Mucolipidosis Type 4

Ganglioside Sialidase Deficiency

Mliv

Ml Iv

Berman Syndrome

Ganglioside Neuraminidase Deficiency

Ml 4

Mucolipidosis 4

Type Iv Mucolipidosis

Gangliosidoses

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

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd

Sensorineural Deafness With Mild Renal Dysfunction

Bartter Disease Type 4a

BARTS4A

Bartter Syndrome, Type 4a

Bartter Syndrome Type 4

Bartter Syndrome, Neonatal, With Sensorineural Deafness

Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type 4a

Neonatal Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type Iv

Bartter Syndrome With Sensorineural Hearing Loss

Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

Hyperprostanglandin E Syndrome 4

Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

Infantile Bartter Syndrome With Sensorineural Deafness

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]

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 TRPM6 VGNC VGNC:79107
Rattus norvegicus TRPM6 RGD RGD:1309942
Felis catus TRPM6 VGNC VGNC:66591
Mus musculus TRPM6 MGD MGI:2675603
Bos taurus TRPM6 VGNC VGNC:36392
Canis familiaris TRPM6 VGNC VGNC:47877