GABRR3 gamma-aminobutyric acid type A receptor subunit rho3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRR3provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit rho3provided by HGNC
Primary source: HGNC:HGNC:17969
See related: Ensembl:ENSG00000183185 MIM:618668; AllianceGenome:HGNC:17969
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: The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3q11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (97985102..98035315, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (100688820..100739024, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (97703946..97754159, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results suggest association between GABRR3 rs832032 polymorphism and the risk for restless legs syndrome , and a modifier effect of GABRA4 rs2229940 on the age of onset of restless legs syndrome .
Title: Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
GABA(C) receptors are specifically involved in aspects of visual image motion processing in the rat brain
Title: GABA receptor rho subunit expression in the developing rat brain.

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D3S1752 (e-PCR)
- UniSTS:36663

G65673 (e-PCR)
- UniSTS:225465

D3S3283 (e-PCR)
- UniSTS:6632

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-A receptor activity	NAS Non-traceable Author Statement more info	PubMed
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

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	NAS Non-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	NAS Non-traceable Author Statement more info	PubMed

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
is_active_in cellular_component	ND No biological Data available more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit rho-3

Names: GABA(A) receptor subunit rho-3; GABA(C) receptor; GABAAR subunit rho-3; gamma-aminobutyric acid (GABA) A receptor, rho 3; gamma-aminobutyric acid type A receptor rho3 subunit

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001105580.3 → NP_001099050.1 gamma-aminobutyric acid receptor subunit rho-3 precursor

See identical proteins and their annotated locations for NP_001099050.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the functional allele (SNP rs832032, has Tyr205 versus a stop codon) and encodes the supported protein.

Source sequence(s)

AC026100, KF459624

Consensus CDS

CCDS54617.1

UniProtKB/Swiss-Prot

A8MPY1, Q9UIV9

Related

ENSP00000420790.1, ENST00000472788.6

Conserved Domains (3) summary

TIGR00860
Location:55 → 466

LIC; Cation transporter family protein

pfam02931
Location:59 → 267

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:274 → 463

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RNA

NR_047685.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (1, non-coding) represents the non-functional allele with a premature stop codon (SNP rs832032, Tyr205X), as found in some individuals.

Source sequence(s)

AC026100, CR749263, KF459624