2. Gene
  3. GABRE - gamma-aminobutyric acid type A receptor subunit epsilon Gene

GABRE - gamma-aminobutyric acid type A receptor subunit epsilon Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：γ-氨基丁酸 A 型受体亚基 epsilon

种属: Homo sapiens

基因 ID: 2564 | 基因类型: protein coding

关于 GABRE

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:151,953,124-151,974,676 (from NCBI)

This gene has 12 transcripts (splice variants), 108 orthologues and 45 paralogues. Broad expression in skin (RPKM 13.6), fat (RPKM 13.4) and 17 other tissues.

功能概要

该基因的产物属于配体门控离子通道 (TC 1.A.9) 家族。它编码 γ-氨基丁酸 (GABA) 受体，该受体是一种多亚基氯离子通道，可介导中枢神经系统中最快的抑制性突触传递。该基因编码一个 epsilon 亚基。它被映射到一个簇中的染色体 Xq28，该簇由编码同一受体的 alpha 3、beta 4 和 theta 亚基的基因组成。已经鉴定出可变剪接的转录物变体，但只有一种被认为编码蛋白质。[RefSeq 提供，2008 年 10 月]

The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit Chloride Channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]

GABRE 基因产物(1)

mRNA Protein Name
NM_004961.4 NP_004952.2 gamma-aminobutyric acid receptor subunit epsilon precursor

GABRE 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (72 - 264)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (285 - 500)

  • 0
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  • 400
  • 506 a.a.
蛋白主名 其他名称

gamma-aminobutyric acid receptor subunit epsilon

GABA(A) receptor subunit epsilon

关联疾病

疾病名称 别名
Epilepsy, Idiopathic Generalized 12

EIG12

Epilepsy, Idiopathic Generalized, Susceptibility To, 12

Idiopathic Generalized Epilepsy 12

Susceptibility To Idiopathic Generalized Epilepsy 12

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 12
Dystonia 9

DYT9

Choreoathetosis/Spasticity, Episodic

Episodic Choreoathetosis/Spasticity

Cse Choreoathetosis, Paroxysmal, With Episodic Ataxia

Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity

Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity

Cse

Dystonia-9

Kinesigenic Choreoathetosis With Episodic Ataxia And Spasticity

Paroxysmal Choreoathetosis With Episodic Ataxia

Dystonia, Type 9
Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential
Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05219 GABRE Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta GABRE VGNC VGNC:72855
Mus musculus GABRE MGD MGI:1330235
Rattus norvegicus GABRE RGD RGD:68320
Canis familiaris GABRE VGNC VGNC:41062
Felis catus GABRE VGNC VGNC:62427
Bos taurus GABRE VGNC VGNC:29199
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