1. Gene
  2. GRM6 - glutamate metabotropic receptor 6 Gene

GRM6 - glutamate metabotropic receptor 6 Gene

中文名称:谷氨酸代谢型受体 6

种属: Homo sapiens

同用名: mGlu6; CSNB1B; GPRC1F; MGLUR6

基因 ID: 2916 | 基因类型: protein coding

关于 GRM6

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:178,978,327-178,995,320 (from NCBI)

This gene has 6 transcripts (splice variants), 250 orthologues, 7 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

功能概要

L-谷氨酸是中枢神经系统中主要的兴奋性神经递质,可激活离子型和代谢型谷氨酸受体。谷氨酸能神经传递涉及正常大脑功能的大多数方面,并且在许多神经病理学状况下可能受到干扰。代谢型谷氨酸受体是 G 蛋白偶联受体家族,根据序列同源性、推定的信号转导机制和药理学特性将其分为 3 组。 I 组包括 GRM1 和 GRM5,这些受体已显示可激活磷脂酶 C。II 组包括 GRM2 和 GRM3,而 III 组包括 GRM4、GRM6、GRM7 和 GRM8。 II 组和 III 组受体与环 AMP 级联的抑制有关,但它们的激动剂选择性不同。该基因的突变会导致 1B 型先天性静止性夜盲症。[RefSeq 提供,2018 年 5 月]

L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and Metabotropic Glutamate Receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The Metabotropic Glutamate Receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate Phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018]

GRM6 基因产物(1)

mRNA Protein Name
NM_000843.4 NP_000834.2 metabotropic glutamate receptor 6 precursor
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 glutamate receptor activity IMP
IMP: 通过突变表型推断
23452348 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17405131 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
17405131 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G protein-coupled glutamate receptor signaling pathway IMP
IMP: 通过突变表型推断
23452348 GOA
involved in detection of light stimulus involved in visual perception IMP
IMP: 通过突变表型推断
17405131 GOA
involved in positive regulation of calcium ion import across plasma membrane IMP
IMP: 通过突变表型推断
23452348 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
17405131 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
17405131 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17405131 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

GRM6 蛋白结构

ANF_receptor

ANF_receptor: Receptor family ligand binding region (68 - 476)

NCD3G

NCD3G: Nine Cysteines Domain of family 3 GPCR (514 - 564)

7tm_3

7tm_3: 7 transmembrane sweet-taste receptor of 3 GCPR (595 - 843)

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

metabotropic glutamate receptor 6

glutamate receptor, metabotropic 6

关联疾病

疾病名称 别名
Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

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

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Night Blindness, Congenital Stationary, Type 1b

Congenital Stationary Night Blindness 1b

CSNB1B

Night Blindness, Congenital Stationary, Complete, Autosomal Recessive

Csnb, Complete, Autosomal Recessive

Night Blindness, Congenital Stationary , 1b, Autosomal Recessive

Autosomal Recessive Complete Congenital Stationary Night Blindness

Congenital Stationary Night Blindness 1b Autosomal Recessive

Night Blindness, Congenital Stationary, 1b

Complete Autosomal Recessive Csnb

Complete Congenital Stationary Night Blindness Autosomal Recessive

Blindness, Night, Stationary, Congenital, Type 1b

Night Blindness

Nyctalopia

Cone-Rod Dystrophy, X-Linked, 3

CORDX3

X-Linked Cone-Rod Dystrophy 3

Cone-Rod Dystrophy X-Linked 3

Cone-Rod Dystrophy, X-Linked 3

Dystrophy, Cone-Rod, X-Linked, Type 3

Strabismic Amblyopia

Suppression Amblyopia

Amblyopia, Suppression

Amblyopia

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Night Blindness, Congenital Stationary, Type 1a

Congenital Stationary Night Blindness 1a

CSNB1A

Hemeralopia-Myopia

Myopia-Night Blindness

Night Blindness, Congenital Stationary , 1a, X-Linked

Congenital Stationary Night Blindness With Myopia

Csnb, Complete, X-Linked

Night Blindness, Congenital Stationary, With Myopia

Nbm1

Complete Csnb X-Linked

Congenital Stationary Night Blindness 1a X-Linked

Nbmi

Night Blindness, Congenital Stationary, 1a

Complete X-Linked Csnb

Nyctalopia

Xlcsnb

X-Linked Congenital Stationary Night Blindness

Blindness, Night, Stationary, Congenital, Type 1a

Night Blindness

X-Linked Csnb

Night Blindness, Congenital Stationary, Type 2a

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Retinitis Pigmentosa 14

RP14

Retinitis Pigmentosa Juvenile Tulp1-Related

Retinitis Pigmentosa-14

Retinitis Pigmentosa, Type 14

Fundus Albipunctatus

Retinitis Punctata Albescens

Pigmentary Retinal Dystrophy

RPA

Albipunctate Retinal Dystrophy

Lauber'S Disease

FALBI

Fa

Familial Isolated Hypoparathyroidism

Fih

Refractive Error

Refractive Errors

Abnormal Threshold Of Rods

Abnormal Dark Adaptation Curve

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 GRM6 VGNC VGNC:73290
Canis familiaris GRM6 VGNC VGNC:41513
Bos taurus GRM6 VGNC VGNC:29661
Felis catus GRM6 VGNC VGNC:67480
Mus musculus GRM6 MGD MGI:1351343
Rattus norvegicus GRM6 RGD RGD:2747