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GABRA3 - gamma-aminobutyric acid type A receptor subunit alpha3 Gene

Also Known as EPILX2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2556

About GABRA3

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:152,166,234-152,451,315 (from NCBI)

This gene has 4 transcripts (splice variants), 198 orthologues, 45 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 11.7) and placenta (RPKM 1.8).

Summary

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. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]

GABRA3 Products (1)

mRNA	Protein	Name
NM_000808.4	NP_000799.1	gamma-aminobutyric acid receptor subunit alpha-3 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables GABA-A receptor activity	IDA IDA: Inferred from direct assay	16412217	GOA
enables GABA-gated chloride ion channel activity	IDA IDA: Inferred from direct assay	16412217	GOA
enables GABA-gated chloride ion channel activity	IMP IMP: Inferred from mutant phenotype	29053855	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26613940	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GABRA3 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
492 a.a.

Protein Preferred Names	Protein Names
gamma-aminobutyric acid receptor subunit alpha-3	GABA(A) receptor subunit alpha-3

Related Diseases

Diseases	Alias
Thyrotoxic Periodic Paralysis	Thyrotoxic Hypokalemic Periodic Paralysis
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Developmental And Epileptic Encephalopathy 43	DEE43 Epileptic Encephalopathy, Early Infantile, 43 Eiee43 Developmental And Epileptic Encephalopathy, 43 Early Infantile Epileptic Encephalopathy 43
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Dyschromatosis Symmetrica Hereditaria	Dyschromatosis Symmetrica Hereditaria 1 Reticulate Acropigmentation Of Dohi DSH Dsh1 Symmetric Dyschromatosis Of The Extremities Rad Familial Reticulate Acropigmentation Of Dohi Acropigmentation Of Dohi Symmetrical Dyschromatosis Of Extremities
Reflex Sympathetic Dystrophy	Algodystrophy Reflex Sympathetic Dystrophy Syndrome Complex Regional Pain Syndrome Type 1 Complex Regional Pain Syndromes Algodystrophic Syndrome
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05211	GABRA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GABRA3	VGNC	VGNC:41055
Mus musculus	GABRA3	MGD	MGI:95615
Felis catus	GABRA3	VGNC	VGNC:62419
Rattus norvegicus	GABRA3	RGD	RGD:2648
Macaca mulatta	GABRA3	VGNC	VGNC:72848
Bos taurus	GABRA3	VGNC	VGNC:29192