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

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

Homo sapiens

Also known as THETA

Gene ID: 55879 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_018558.4 NP_061028.3 gamma-aminobutyric acid receptor subunit theta precursor
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables GABA-A receptor activity IDA
IDA: Inferred from direct assay
16412217 GOA
enables GABA-gated chloride ion channel activity IDA
IDA: Inferred from direct assay
16412217 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
part of receptor complex IDA
IDA: Inferred from direct assay
23382219 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GABRQ Protein Structure

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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 632 a.a.
Protein Preferred Names Protein Names

gamma-aminobutyric acid receptor subunit theta

GABA(A) receptor subunit theta

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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