GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRG3provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit gamma3provided by HGNC
Primary source: HGNC:HGNC:4088
See related: Ensembl:ENSG00000182256 MIM:600233; AllianceGenome:HGNC:4088
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: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 15q12

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (26971181..27541984)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (24712759..25284426)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (27216328..27787130)

Chromosome 15 - NC_000015.10 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?

Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder.
Title: Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder.
SNP-PCR genotyping links alterations in the GABAA receptor (GABRG3: rs208129) and RELN (rs73670) genes to autism spectrum disorder among peadiatric Iraqi Arabs.
Title: SNP-PCR genotyping links alterations in the GABAA receptor (GABRG3: rs208129) and RELN (rs73670) genes to autism spectrum disorder among peadiatric Iraqi Arabs.
GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.
Title: GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.
Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies.
Title: Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies.
GABRG3 is a susceptibility gene for autism in Chinese Han
Title: Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population.
Meta-analysis showed that GABRG3 polymorphisms are not significantly associated with autism.
Title: Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).
suggestive evidence was found for association between rs8036270 in the GABRG3 gene and exercise participation
Title: Genome-wide association study of exercise behavior in Dutch and American adults.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of exercise behavior in Dutch and American adults.
results of the present study suggest that hippocampal neurons expressing GABAAgamma receptor subunits resist the progression of neurofibrillary degeneration in Alzheimer disease hippocampus
Title: An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer's disease hippocampus: relationship to neurofibrillary tangle progression.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Genetic variants near PDGFRA are associated with corneal curvature in Australians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S822 (e-PCR)
- UniSTS:70680

SHGC-35889 (e-PCR)
- UniSTS:1841

RH71404 (e-PCR)
- UniSTS:84788

D15S975 (e-PCR), detects polymorphism
- UniSTS:30520

Gabrg3 (e-PCR), detects polymorphism
- UniSTS:525656

NoName (e-PCR)
- UniSTS:487002

SHGC-105519 (e-PCR)
- UniSTS:169328

NoName (e-PCR)
- UniSTS:494456

SHGC-150906 (e-PCR)
- UniSTS:173545

WI-10300 (e-PCR)
- UniSTS:59122

SHGC-104634 (e-PCR)
- UniSTS:168947

GDB:593252 (e-PCR)
- UniSTS:157947

GDB:593257 (e-PCR)
- UniSTS:157949

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-gated chloride ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to benzodiazepine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor 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 chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibitory synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, GABAergic	IBA Inferred from Biological aspect of Ancestor 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
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor 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

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

Names: GABA(A) receptor subunit gamma-3; GABA(G) receptor, gamma 3; gamma-aminobutyric acid (GABA) A receptor, gamma 3; gamma-aminobutyric acid type A receptor gamma3 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.

Genomic

NG_032887.2 RefSeqGene

Range

5001..575804

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001270873.2 → NP_001257802.1 gamma-aminobutyric acid receptor subunit gamma-3 isoform 2 precursor

See identical proteins and their annotated locations for NP_001257802.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 which is longer/shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC104002, AC127511, AC145436, BC045709, DN990720

Consensus CDS

CCDS59251.1

UniProtKB/Swiss-Prot

Q99928

Related

ENSP00000452244.1, ENST00000555083.5

Conserved Domains (1) summary

pfam02931
Location:48 → 231

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
NM_033223.5 → NP_150092.2 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor

See identical proteins and their annotated locations for NP_150092.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC104002, AC127511, BC029850, DN990720, S82769

Consensus CDS

CCDS45195.1

UniProtKB/Swiss-Prot

G3V594, Q99928, Q9HD46, Q9NYT2

Related

ENSP00000479113.1, ENST00000615808.5

Conserved Domains (3) summary

TIGR00860
Location:50 → 464

LIC; Cation transporter family protein

pfam02931
Location:48 → 253

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:260 → 461

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region