GABRR2 - gamma-aminobutyric acid type A receptor subunit rho2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2570

About GABRR2

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:89,254,464-89,315,299 (from NCBI)

This gene has 3 transcripts (splice variants), 266 orthologues and 45 paralogues. Low expression observed in reference dataset.

Summary

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]

GABRR2 Products (1)

mRNA Protein Name
NM_002043.5 NP_002034.3 gamma-aminobutyric acid receptor subunit rho-2 precursor

GABRR2 Protein Structure

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (62 - 261)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (268 - 373)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 465 a.a.
Protein Preferred Names Protein Names

gamma-aminobutyric acid receptor subunit rho-2

  • GABA-C receptor, rho-2 subunit

Related Diseases

Diseases Alias
Alcohol Dependence
  • Alcoholism

  • Alcohol Dependence, Susceptibility To

  • Alcohol Dependence, Protection Against

  • Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

  • Alcoholism, Susceptibility To

  • Alcoholic Intoxication, Chronic

  • Pharyngeal Neoplasms

  • Chronic Alcoholism

  • Dipsomania

  • Alcohol Addiction

  • Ethanol Dependence

  • Chronic Ethanolism

  • Chronic Alcoholic Disease Nos

  • Alcoholic Disease Nos

  • Alcoholic

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

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Angelman Syndrome
  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome

Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Rattus norvegicus GABRR2 RGD RGD:61902
Canis familiaris GABRR2 VGNC VGNC:57240
Felis catus GABRR2 VGNC VGNC:102427
Mus musculus GABRR2 MGD MGI:95626
Bos taurus GABRR2 VGNC VGNC:54398
Macaca mulatta GABRR2 VGNC VGNC:72861
Others GABRR2 NCBI