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

Also Known as THETA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55879

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
Molecular Function GO Annotation Evidence References 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 References 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)

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  • 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
Others GABRQ NCBI