1. Gene
  2. GABRQ - gamma-aminobutyric acid type A receptor subunit theta Gene

GABRQ - gamma-aminobutyric acid type A receptor subunit theta Gene

中文名称:γ-氨基丁酸 A 型受体亚基 theta

种属: Homo sapiens

同用名: THETA

基因 ID: 55879 | 基因类型: protein coding

关于 GABRQ

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:152,637,895-152,658,965 (from NCBI)

This gene has 1 transcript (splice variant), 86 orthologues and 45 paralogues. Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.9) and 4 other tissues.

功能概要

γ-氨基丁酸 (GABA) A 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 GABA A 受体的 theta 亚基。该基因被映射到一组基因中的染色体 Xq28,包括那些编码 GABA A 受体的 alpha 3 和 epsilon 亚基的基因。[RefSeq 提供,2017 年 7 月]

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit Chloride Channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. [provided by RefSeq, Jul 2017]

GABRQ 基因产物(1)

mRNA Protein Name
NM_018558.4 NP_061028.3 gamma-aminobutyric acid receptor subunit theta precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GABA-A receptor activity IDA
IDA: 通过直接分析推断
16412217 GOA
enables GABA-gated chloride ion channel activity IDA
IDA: 通过直接分析推断
16412217 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of receptor complex IDA
IDA: 通过直接分析推断
23382219 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

GABRQ 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (60 - 264)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (272 - 627)

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  • 500
  • 632 a.a.
蛋白主名 其他名称

gamma-aminobutyric acid receptor subunit theta

GABA(A) receptor subunit theta

关联疾病

疾病名称 别名
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

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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
Mus musculus GABRQ MGD MGI:1888498
Canis familiaris GABRQ VGNC VGNC:41066
Rattus norvegicus GABRQ RGD RGD:68331
Bos taurus GABRQ VGNC VGNC:29202
Felis catus GABRQ VGNC VGNC:62429