GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRR2provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit rho2provided by HGNC
Primary source: HGNC:HGNC:4091
See related: Ensembl:ENSG00000111886 MIM:137162; AllianceGenome:HGNC:4091
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 6q15

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (89254464..89315299, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (90463740..90524560, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (89964183..90025018, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GABAergic genes interacting with parenting in adolescent depressive symptoms: GABRR2 X perceived parental support interaction.
Title: Gene-based interaction analysis shows GABAergic genes interacting with parenting in adolescent depressive symptoms.
The genetic variant of GABRR2 gene contributes to the difference of individuals' general cognitive ability in a Chinese Han population.
Title: Genetic Polymorphism of GABRR2 Modulates Individuals' General Cognitive Ability in Healthy Chinese Han People.
GABRR2 and CHRNA3 were found to be differentially expressed after risperidone treatment. These genes may be regulated by antipsychotic use.
Title: Neurotransmitter receptor and regulatory gene expression in peripheral blood of Brazilian drug-naïve first-episode psychosis patients before and after antipsychotic treatment.
significant involvement of alpha (GABRA6) and beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility in north Indian population
Title: Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.
found no significant differences in either the frequencies of the GABRR1-M26V, GABRR1- H27R, GABRR2-T455M, and GABRR3-Y205X genotypes or in the frequencies of the allelic variants of these polymorphisms in patients with essential tremor
Title: Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.
GABRR1 and GABRR2 encode the GABA-A receptor subunits rho1 and rho2 and are associated with alcohol dependence
Title: GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
association between serum creatinine level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12
Title: A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
Molecular modeling of ligand-receptor interactions of gamma-aminobutyric acid type C receptor rho1, human.
Title: Molecular modeling of ligand-receptor interactions in GABA C receptor.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G17035 (e-PCR)
- UniSTS:14891

WI-18967 (e-PCR)
- UniSTS:62527

NoName (e-PCR)
- UniSTS:493926

RH123219 (e-PCR)
- UniSTS:135604

SHGC-12769 (e-PCR)
- UniSTS:53443

SHGC4-1794 (e-PCR)
- UniSTS:184281

NoName (e-PCR)
- UniSTS:483832

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables GABA-gated chloride ion channel activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in intracellular vesicle	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: gamma-aminobutyric acid receptor subunit rho-2

Names: GABA-C receptor, rho-2 subunit; GABAAR subunit rho-2; gamma-aminobutyric acid (GABA) A receptor, rho 2; gamma-aminobutyric acid type A receptor rho2 subunit

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033977.2 RefSeqGene

Range

5001..65836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002043.5 → NP_002034.3 gamma-aminobutyric acid receptor subunit rho-2 precursor

See identical proteins and their annotated locations for NP_002034.3

Status: REVIEWED

Source sequence(s)

AL121833, AW152520, BC130354, BX490975

Consensus CDS

CCDS5020.3

UniProtKB/Swiss-Prot

A2BDE4, P28476, Q9H153

Related

ENSP00000386029.4, ENST00000402938.4

Conserved Domains (1) summary

cl27321
Location:51 → 464

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

89254464..89315299 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418599.1 → XP_047274555.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X1
XM_011535715.4 → XP_011534017.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2

See identical proteins and their annotated locations for XP_011534017.1

UniProtKB/TrEMBL

B4DER2

Conserved Domains (2) summary

pfam02931
Location:1 → 162

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:169 → 362

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_011535717.4 → XP_011534019.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2

See identical proteins and their annotated locations for XP_011534019.1

UniProtKB/TrEMBL

B4DER2

Conserved Domains (2) summary

pfam02931
Location:1 → 162

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:169 → 362

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_011535716.4 → XP_011534018.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2

See identical proteins and their annotated locations for XP_011534018.1

UniProtKB/TrEMBL

B4DER2

Conserved Domains (2) summary

pfam02931
Location:1 → 162

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:169 → 362

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_011535714.4 → XP_011534016.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2

See identical proteins and their annotated locations for XP_011534016.1

UniProtKB/TrEMBL

B4DER2

Conserved Domains (2) summary

pfam02931
Location:1 → 162

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:169 → 362

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

90463740..90524560 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355077.1 → XP_054211052.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2
XM_054355079.1 → XP_054211054.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2
XM_054355078.1 → XP_054211053.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2
XM_054355076.1 → XP_054211051.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X2
XM_054355075.1 → XP_054211050.1 gamma-aminobutyric acid receptor subunit rho-2 isoform X1