GABRR3

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

Basic information

Region (hg38): 3:97985101-98035315

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.

• Inborn genetic diseases (21 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	0

Variants in GABRR3

This is a list of pathogenic ClinVar variants found in the GABRR3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-97986711-T-C		not specified	Uncertain significance (Dec 07, 2023)
3-97986723-T-C		not specified	Uncertain significance (Dec 20, 2023)
3-97986783-A-T		not specified	Uncertain significance (Dec 31, 2023)
3-97986976-T-C		not specified	Likely benign (Nov 13, 2023)
3-97992952-C-A		not specified	Uncertain significance (Apr 25, 2023)
3-97993001-C-T		not specified	Uncertain significance (Apr 12, 2022)
3-97993009-G-C		not specified	Likely benign (Feb 07, 2023)
3-98001742-G-T		not specified	Uncertain significance (Feb 21, 2024)
3-98001753-G-A		not specified	Uncertain significance (Oct 27, 2021)
3-98007782-C-A		not specified	Uncertain significance (Jan 03, 2022)
3-98007796-G-T		not specified	Uncertain significance (May 09, 2023)
3-98007832-A-G		not specified	Uncertain significance (Oct 27, 2022)
3-98008964-A-T		not specified	Uncertain significance (Jul 05, 2023)
3-98008985-G-A		not specified	Uncertain significance (Jun 21, 2021)
3-98009033-G-A		not specified	Uncertain significance (Jan 04, 2024)
3-98012378-C-T		not specified	Uncertain significance (Jan 03, 2024)
3-98012446-T-A		not specified	Uncertain significance (Mar 28, 2023)
3-98012447-C-A		not specified	Uncertain significance (Dec 27, 2023)
3-98012447-C-T		not specified	Uncertain significance (Nov 08, 2022)
3-98012528-C-A		not specified	Uncertain significance (Apr 05, 2023)
3-98017660-T-C		not specified	Uncertain significance (Oct 26, 2021)
3-98017713-A-G		not specified	Uncertain significance (Nov 09, 2023)
3-98025583-C-T		not specified	Uncertain significance (Jan 24, 2024)
3-98025594-C-T		not specified	Uncertain significance (Aug 17, 2021)
3-98025605-A-G		not specified	Uncertain significance (Aug 15, 2023)

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

• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.09

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.508

Mouse Genome Informatics

• Gene name: Gabrr3

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