GABRQ

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

Basic information

Region (hg38): X:152637895-152657542

Links

ENSG00000268089

∙ NCBI:55879 ∙ OMIM:300349 ∙ HGNC:14454 ∙ Uniprot:Q9UN88 ∙ 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 GABRQ gene.

not_specified (63 variants)
not_provided (6 variants)
GABRQ-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GABRQ gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018558.4. 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			6 clinvar	2 clinvar		8
missense			67 clinvar	8 clinvar		75
nonsense			4 clinvar			4
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	82	10	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.;
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);GABA receptor Signaling;GABA A receptor activation;Neuronal System;GABA receptor activation;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses (Consensus)

Recessive Scores

pRec: 0.230

Intolerance Scores

loftool: 0.450
rvis_EVS: -0.76
rvis_percentile_EVS: 13.33

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0147

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

Biological process: neurotransmitter transport;signal transduction;chemical synaptic transmission;ion transmembrane transport;regulation of membrane potential;nervous system process;chloride transmembrane transport
Cellular component: plasma membrane;integral component of plasma membrane;cell junction;chloride channel complex;neuron projection;receptor complex;synapse;postsynaptic membrane;GABA-A receptor complex
Molecular function: transmembrane signaling receptor activity;GABA-A receptor activity;extracellular ligand-gated ion channel activity;chloride channel activity;neurotransmitter transporter activity