GABRR3

gamma-aminobutyric acid type A receptor subunit rho3, the group of Gamma-aminobutyric acid type A receptor subunits

Basic information

Region (hg38): 3:97985102-98035315

Links

ENSG00000183185

∙ NCBI:200959 ∙ OMIM:618668 ∙ HGNC:17969 ∙ Uniprot:A8MPY1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GABRR3 gene.

not_specified (86 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GABRR3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001105580.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			79 clinvar	7 clinvar		86
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	79	7	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. {ECO:0000250}.;
Pathway: Retrograde endocannabinoid signaling - Homo sapiens (human);GABAergic synapse - Homo sapiens (human);Nicotine addiction - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Prader-Willi and Angelman Syndrome;Neuronal System;GABA A (rho) receptor activation;GABA receptor activation;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses (Consensus)

Intolerance Scores

loftool
rvis_EVS: -0.02
rvis_percentile_EVS: 52.09

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.508

Mouse Genome Informatics

Gene name: Gabrr3
Phenotype

Gene ontology

Biological process: signal transduction;gamma-aminobutyric acid signaling pathway;chemical synaptic transmission;ion transmembrane transport;regulation of membrane potential;nervous system process;chloride transmembrane transport
Cellular component: cellular_component;plasma membrane;integral component of plasma membrane;cell junction;chloride channel complex;neuron projection;synapse;postsynaptic membrane;GABA-A receptor complex
Molecular function: GABA-A receptor activity;extracellular ligand-gated ion channel activity;chloride channel activity;protein domain specific binding