1. Gene
  2. TRPM7 - transient receptor potential cation channel subfamily M member 7 Gene

TRPM7 - transient receptor potential cation channel subfamily M member 7 Gene

中文名称:瞬时受体电位阳离子通道亚家族 M 成员 7

种属: Homo sapiens

同用名: CHAK; CHAK1; ALSPDC; LTRPC7; LTrpC-7; TRP-PLIK

基因 ID: 54822 | 基因类型: protein coding

关于 TRPM7

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:50,557,158-50,686,797 (from NCBI)

This gene has 10 transcripts (splice variants), 226 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 8.4), kidney (RPKM 8.2) and 25 other tissues.

功能概要

该基因属于离子通道瞬时受体电位家族的美拉抑素亚家族。该基因编码的蛋白质既是离子通道又是丝氨酸/苏氨酸蛋白激酶。激酶活性对于离子通道功能至关重要,离子通道功能用于增加细胞内钙水平并帮助调节镁离子稳态。编码的蛋白质参与细胞骨架组织、细胞粘附、细胞迁移和器官发生。该基因的缺陷是关岛肌萎缩侧索硬化症-帕金森综合症/痴呆综合症的一个原因。该基因也可能与心脏功能缺陷有关。[RefSeq 提供,2017 年 8 月]

This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]

TRPM7 基因产物(2)

mRNA Protein Name
NM_001301212.2 NP_001288141.1 transient receptor potential cation channel subfamily M member 7 isoform b
NM_017672.6 NP_060142.3 transient receptor potential cation channel subfamily M member 7 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 channel activity IDA
IDA: 通过直接分析推断
11385574 GOA
enables magnesium ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
35561741 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16636202 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
15485879 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
11385574 GOA
involved in magnesium ion homeostasis IDA
IDA: 通过直接分析推断
12887921 GOA
involved in magnesium ion transport IDA
IDA: 通过直接分析推断
35561741 GOA
involved in necroptotic process IMP
IMP: 通过突变表型推断
24316671 GOA
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
18365021 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
18365021 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
35561741 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

TRPM7 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (889 - 1095)

Alpha_kinase

Alpha_kinase: Alpha-kinase family (1620 - 1816)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1865 a.a.
蛋白主名 其他名称

transient receptor potential cation channel subfamily M member 7

LTRPC ion channel family member 7

TRPM7 抗体

目录号 产品名 应用 反应物种
HY-P82646 TRPM7 Antibody (YA2391) WB, ICC/IF, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1

Guam Disease

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam

Als-Pdc

Lytico-Bodig Disease

Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex

Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome

Parkinsonism-Dementia-Als Complex

Pdals

Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam

Parkinson-Dementia Complex Of Guam

G-Pdc

Guam Parkinsonism-Dementia Complex

ALS-PDC1

Als/Pdc Of Guam

Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1

Amyotrophic Lateral Sclerosis, Guam Form

Parkinsonian Disorders

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

Autosomal Dominant Macrothrombocytopenia
Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Trigeminal Neuralgia

Tic Douloureux

Trifacial Neuralgia

Trifocal Neuralgia

Neuralgia Of The Fifth Cranial Nerve

Neuralgia Of 5th Cranial Nerve

Infraorbital Neuralgia

Cardiomyopathy, Dilated, 1o

Dilated Cardiomyopathy 1o

CMD1O

Dilated Cardiomyopathy With Ventricular Tachycardia

Cardiomyopathy, Dilated, With Ventricular Tachycardia

Cardiomyopathy, Dilated 1o

Cardiomyopathy, Dilated, Type 1o

Dystonia 26, Myoclonic

Myoclonic Dystonia 26

DYT26

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

XMEN

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

Cid Due To Magt1 Deficiency

Combined Immunodeficiency Due To Magt1 Deficiency

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An

X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia

Aplasia Of Lacrimal And Salivary Glands

ALSG

Congenital Absence Of Lacrimal Puncta And Salivary Glands

Xerostomia

Absence Of Salivary Glands

Parotid Aplasia Or Hypoplasia

Congenital Absence Of Lacrimal Puncta Or Salivary Glands

Alsg - [Aplasia Of Lacrimal Or Salivary Glands]

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

Primary Hypomagnesemia

Familial Primary Hypomagnesemia

Homg

Primary Familial Hypomagnesemia

Genetic Primary Hypomagnesemia

Hypomagnesemia 1, Intestinal

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

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

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
Felis catus TRPM7 VGNC VGNC:66592
Bos taurus TRPM7 VGNC VGNC:36393
Macaca mulatta TRPM7 VGNC VGNC:79106
Rattus norvegicus TRPM7 RGD RGD:620053
Canis familiaris TRPM7 VGNC VGNC:47878
Mus musculus TRPM7 MGD MGI:1929996
Others TRPM7 NCBI