1. Gene
  2. TRPM3 - transient receptor potential cation channel subfamily M member 3 Gene

TRPM3 - transient receptor potential cation channel subfamily M member 3 Gene

中文名称:瞬时受体电位阳离子通道亚家族 M 成员 3

种属: Homo sapiens

同用名: GON-2; MLSN2; LTRPC3

基因 ID: 80036 | 基因类型: protein coding

关于 TRPM3

Cytogenetic location: 9q21.12-q21.13 Genomic coordinates (GRCh38): 9:70,529,060-71,446,971 (from NCBI)

This gene has 28 transcripts (splice variants), 224 orthologues, 7 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 3.0), brain (RPKM 0.8) and 2 other tissues.

功能概要

该基因的产物属于瞬时受体电位 (TRP) 通道家族。 TRP 通道是阳离子选择性通道,对细胞钙信号和体内平衡很重要。由该基因编码的蛋白质介导钙进入,并且这种进入因钙储存耗尽而增强。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

TRPM3 基因产物(23)

mRNA Protein Name
NM_001007470.3 NP_001007471.1 transient receptor potential cation channel subfamily M member 3 isoform c
NM_001007471.4 NP_001007472.2 transient receptor potential cation channel subfamily M member 3 isoform k
NM_001366141.2 NP_001353070.1 transient receptor potential cation channel subfamily M member 3 isoform i
NM_001366142.2 NP_001353071.1 transient receptor potential cation channel subfamily M member 3 isoform j
NM_001366143.2 NP_001353072.1 transient receptor potential cation channel subfamily M member 3 isoform w
NM_001366144.2 NP_001353073.1 transient receptor potential cation channel subfamily M member 3 isoform l
NM_001366145.2 NP_001353074.1 transient receptor potential cation channel subfamily M member 3 isoform m
NM_001366146.2 NP_001353075.1 transient receptor potential cation channel subfamily M member 3 isoform n
NM_001366147.2 NP_001353076.1 transient receptor potential cation channel subfamily M member 3 isoform o
NM_001366148.2 NP_001353077.1 transient receptor potential cation channel subfamily M member 3 isoform p
NM_001366149.2 NP_001353078.1 transient receptor potential cation channel subfamily M member 3 isoform q
NM_001366150.2 NP_001353079.1 transient receptor potential cation channel subfamily M member 3 isoform r
NM_001366151.2 NP_001353080.1 transient receptor potential cation channel subfamily M member 3 isoform s
NM_001366152.2 NP_001353081.1 transient receptor potential cation channel subfamily M member 3 isoform t
NM_001366153.2 NP_001353082.1 transient receptor potential cation channel subfamily M member 3 isoform u
NM_001366154.2 NP_001353083.1 transient receptor potential cation channel subfamily M member 3 isoform v
NM_020952.6 NP_066003.3 transient receptor potential cation channel subfamily M member 3 isoform a
NM_024971.7 NP_079247.5 transient receptor potential cation channel subfamily M member 3 isoform b
NM_206944.5 NP_996827.3 transient receptor potential cation channel subfamily M member 3 isoform d
NM_206945.5 NP_996828.3 transient receptor potential cation channel subfamily M member 3 isoform e
NM_206946.5 NP_996829.3 transient receptor potential cation channel subfamily M member 3 isoform f
NM_206947.5 NP_996830.3 transient receptor potential cation channel subfamily M member 3 isoform g
NM_206948.4 NP_996831.1 transient receptor potential cation channel subfamily M member 3 isoform h
基因本体论
  • 分子功能
  • 生物过程
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
32343227 GOA
enables monoatomic cation channel activity IDA
IDA: 通过直接分析推断
15824111 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
32427099 GOA
acts upstream of or within monoatomic cation transport IDA
IDA: 通过直接分析推断
15824111 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

TRPM3 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (934 - 1111)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1707 a.a.
蛋白主名 其他名称

transient receptor potential cation channel subfamily M member 3

long transient receptor potential channel 3

关联疾病

疾病名称 别名
Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey

Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract

Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome

Retinal Dystrophy And Iris Coloboma With Or Without Cataract

RDICC

Autosomal Dominant Non-Syndromic Intellectual Disability
Luminal Breast Carcinoma B

Luminal B Breast Carcinoma

Dentin Sensitivity

Sensitive Dentin

Anterior Segment Dysgenesis 5

Anterior Segment Dysgenesis 5, Multiple Subtypes

ASGD5

Dysgenesis, Anterior Segment, Type 5, Multiple Subtypes

Exocervical Carcinoma

Carcinoma Of Exocervix

Carcinoma Of The Exocervix

Familial Episodic Pain Syndrome

Feps

Episodic Pain Syndrome, Familial, 1

FEPS1

Familial Episodic Pain Syndrome With Predominantly Upper Body Involvement

Familial Episodic Pain Syndrome 1

Hyperhidrosis, Gustatory

Frey Syndrome

Gustatory Sweating

Auriculotemporal Nerve Syndrome

Gustatory Hyperhidrosis

Frey'S Syndrome

Sweating, Gustatory

HYPRG

Baillarger Syndrome

Hyperhidrosis Gustatory

Auriculotemporal Syndrome

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

Otosclerosis

Otospongiosis

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

Chronic Fatigue Syndrome

Myalgic Encephalomyelitis

Postviral Fatigue Syndrome

Cfs

Myalgic Encephalitis

Encephalomyelitis, Myalgic

Chronic Fatigue

Fatigue Syndrome, Chronic

Benign Myalgic Encephalomyelitis

Akureyri

Akureyri Disease

Cfs - [Chronic Fatigue Syndrome]

Epidemic Neuromyasthenia

Myalgic Encephalomyelitis Syndrome

Me - [Myalgic Encephalomyelitis]

Pvfs - [Postviral Fatigue Syndrome]

Neuromyasthenia

Iceland Disease

Icelandic Disease

Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

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 TRPM3 VGNC VGNC:79104
Canis familiaris TRPM3 VGNC VGNC:47874
Rattus norvegicus TRPM3 RGD RGD:1304888
Felis catus TRPM3 VGNC VGNC:66589
Bos taurus TRPM3 VGNC VGNC:55085
Mus musculus TRPM3 MGD MGI:2443101