GLRB - glycine receptor beta Gene

中文名称：甘氨酸受体β

种属: Homo sapiens

同用名: HKPX2

基因 ID: 2743 | 基因类型: protein coding

关于 GLRB

Cytogenetic location: 4q32.1 Genomic coordinates (GRCh38): 4:157,076,150-157,172,090 (from NCBI)

This gene has 7 transcripts (splice variants), 272 orthologues, 45 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 13.2), salivary gland (RPKM 2.5) and 10 other tissues.

功能概要

该基因编码甘氨酸受体的β亚基，它是由α和β亚基组成的五聚体。该受体起神经递质门控离子通道的作用，由于甘氨酸与受体结合，它通过增加氯离子电导产生超极化。该基因的突变会导致惊吓病，也称为遗传性过度惊跳症或先天性僵人综合症，一种以肌肉僵硬为特征的疾病。可变剪接导致多个转录本变体。[RefSeq 提供，2009 年 10 月]

This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GLRB 基因产物(3)

mRNA	Protein	Name
NM_000824.5	NP_000815.1	glycine receptor subunit beta isoform A precursor
NM_001166060.2	NP_001159532.1	glycine receptor subunit beta isoform A precursor
NM_001166061.2	NP_001159533.1	glycine receptor subunit beta isoform B 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
contributes to extracellularly glycine-gated chloride channel activity	IDA IDA: 通过直接分析推断	8717357	GOA
enables extracellularly glycine-gated ion channel activity	IMP IMP: 通过突变表型推断	11929858	GOA
contributes to glycine binding	IMP IMP: 通过突变表型推断	15748848	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11929858	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chemical synaptic transmission	IMP IMP: 通过突变表型推断	11929858	GOA
involved in chloride transmembrane transport	IMP IMP: 通过突变表型推断	11929858	GOA
involved in monoatomic ion transport	IDA IDA: 通过直接分析推断	8717357	GOA
involved in nervous system development	IMP IMP: 通过突变表型推断	11929858	GOA
involved in neuropeptide signaling pathway	IDA IDA: 通过直接分析推断	8717357	GOA
involved in startle response	IMP IMP: 通过突变表型推断	11929858	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of glycine-gated chloride channel complex	IDA IDA: 通过直接分析推断	11929858	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	8717357	GOA
located in plasma membrane	IMP IMP: 通过突变表型推断	11929858	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

GLRB 蛋白结构

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
497 a.a.

蛋白主名

其他名称

glycine receptor subunit beta

glycine receptor 58 kDa subunit

GLRB 抗体

目录号	产品名	应用	反应物种
HY-P84347	GLRB Antibody (YA4044)	ICC/IF, FC, ELISA	Human

关联疾病

疾病名称

别名

Hyperekplexia 2

HKPX2	Autosomal Recessive Hyperekplexia 2
Hyperekplexia, Type 2

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Agoraphobia

Fear Of Open Spaces

Phobia Of Going Out

Stiff-Person Syndrome

SPS	Stiff-Man Syndrome
Stiff Man Syndrome	Stiff Person Syndrome
Moersch-Woltman Syndrome	Sms
Stiff-Trunk Syndrome	Morsch Woltman Syndrome
Stiff Person Syndrome And Related Disorders	Stiff Person Spectrum Disorder
Classic Stiff Person Syndrome	Classic Sps
Focal Stiff Limb Syndrome	Focal Stiff-Person Syndrome
Stiff Leg Syndrome	Progressive Encephalomyelitis With Rigidity

Hyperekplexia 1

HKPX1	Exaggerated Startle Reaction
Sthe	Stiff-Baby Syndrome
Kok Disease	Startle Disease, Familial
Startle Reaction, Exaggerated	Stiff-Man Syndrome, Congenital
Stiff-Person Syndrome, Congenital	Congenital Stiff-Man Syndrome
Congenital Stiff-Person Syndrome	Familial Startle Disease
Hereditary Hyperexplexia 1	Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
Hyperekplexia	Hereditary Hyperexplexia
Stiff-Person Syndrome

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Microcephaly And Chorioretinopathy 2

Panic Disorder

Panic Anxiety Syndrome	Panic
Panic Disorder 1	Episodic Paroxysmal Anxiety Disorder

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Phobic Disorder

Phobic Disorders

Phobic Anxiety Disorder

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form	Congenital Myotonia
Thomsen And Becker Disease	Thomsen Disease
Thomsen'S Disease	Generalized Myotonia Of Thomsen
Congenital Myotonic Muscular Dystrophy	Myotonia Congenita Nos

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05495	GLRB Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS22187	Glrb Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS28709	Glrb Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	GLRB	RGD	RGD:2706
Mus musculus	GLRB	MGD	MGI:95751
Bos taurus	GLRB	VGNC	VGNC:29415
Macaca mulatta	GLRB	VGNC	VGNC:73077
Felis catus	GLRB	VGNC	VGNC:62592
Canis familiaris	GLRB	VGNC	VGNC:41272

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GLRB - glycine receptor beta Gene

关于 GLRB

功能概要

GLRB 基因产物(3)

GLRB 蛋白结构

GLRB 抗体

关联疾病

直系同源

热门区域

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GLRB - glycine receptor beta Gene

关于 GLRB

功能概要

GLRB 基因产物(3)

GLRB 蛋白结构

GLRB 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z