ENSG00000011677


Homo sapiens

Features
Gene ID: ENSG00000011677
  
Biological name :GABRA3
  
Synonyms : GABRA3 / gamma-aminobutyric acid type A receptor alpha3 subunit / P34903
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q28
Gene start: 152166234
Gene end: 152451358
  
Corresponding Affymetrix probe sets: 207210_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359337
Ensembl peptide - ENSP00000443527
NCBI entrez gene - 2556     See in Manteia.
OMIM - 305660
RefSeq - XM_006724811
RefSeq - NM_000808
RefSeq Peptide - NP_000799
swissprot - P34903
Ensembl - ENSG00000011677
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gabra3ENSDARG00000090883Danio rerio
 GABRA3ENSGALG00000007269Gallus gallus
 Gabra3ENSMUSG00000031343Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GABRA1 / P14867 / gamma-aminobutyric acid type A receptor alpha1 subunitENSG0000002235566
GABRA2 / P47869 / gamma-aminobutyric acid type A receptor alpha2 subunitENSG0000015183466
GABRA5 / P31644 / gamma-aminobutyric acid type A receptor alpha5 subunitENSG0000018629766
GABRA4 / P48169 / gamma-aminobutyric acid type A receptor alpha4 subunitENSG0000010915853
GABRA6 / Q16445 / gamma-aminobutyric acid type A receptor alpha6 subunitENSG0000014586352
GABRG1 / Q8N1C3 / gamma-aminobutyric acid type A receptor gamma1 subunitENSG0000016328540
GABRG2 / P18507 / gamma-aminobutyric acid type A receptor gamma2 subunitENSG0000011332739
GABRG3 / Q99928 / gamma-aminobutyric acid type A receptor gamma3 subunitENSG0000018225638
GABRE / P78334 / gamma-aminobutyric acid type A receptor epsilon subunitENSG0000010228733


Protein motifs (from Interpro)
Interpro ID Name
 IPR001390  Gamma-aminobutyric-acid A receptor, alpha subunit
 IPR005433  Gamma-aminobutyric-acid A receptor, alpha 3 subunit
 IPR006028  Gamma-aminobutyric acid A receptor/Glycine receptor alpha
 IPR006029  Neurotransmitter-gated ion-channel transmembrane domain
 IPR006201  Neurotransmitter-gated ion-channel
 IPR006202  Neurotransmitter-gated ion-channel ligand-binding domain
 IPR018000  Neurotransmitter-gated ion-channel, conserved site
 IPR036719  Neurotransmitter-gated ion-channel transmembrane domain superfamily
 IPR036734  Neurotransmitter-gated ion-channel ligand-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0007214 gamma-aminobutyric acid signaling pathway TAS
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0034707 chloride channel complex IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:1902711 GABA-A receptor complex IBA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004890 GABA-A receptor activity IBA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005230 extracellular ligand-gated ion channel activity IEA
 molecular_functionGO:0005254 chloride channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008503 benzodiazepine receptor activity TAS


Pathways (from Reactome)
Pathway description
Neurotransmitter receptors and postsynaptic signal transmission
GABA A receptor activation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000016 Urinary retention 
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 HP:0000597 Ophthalmoparesis "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0001265 Hyporeflexia 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001663 Ventricular fibrillation 
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 HP:0001824 Weight loss 
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 HP:0001962 Palpitations 
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 HP:0002019 Constipation 
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 HP:0002153 Hyperkalemia 
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 HP:0002203 Respiratory paralysis 
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 HP:0002445 Tetraplegia 
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 HP:0002917 Hypomagnesemia 
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 HP:0003201 Rhabdomyolysis 
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 HP:0003394 Muscle cramps 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0003552 Muscle stiffness 
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 HP:0003694 Proximal muscle weakness occurs later "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators]
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 HP:0003752 Flaccid weakness or paralysis, episodic attacks 
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 HP:0005165 Shortened P-R interval on EKG 
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0008153 Periodic hypokalemic paresis 
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 HP:0008180 Mildly elevated creatine phosphokinase 
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 HP:0008285 Transient hypophosphatemia 
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 HP:0009020 Exercise-induced muscle fatigue "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators]
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 HP:0011706 Second degree atrioventricular block "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [DDD:dbrown, HPO:probinson]
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 HP:0011785 Thyrotoxicosis with toxic multinodular goitre 
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 HP:0011786 Thyrotoxicosis with toxic single thyroid nodule 
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 HP:0011998 Postprandial hyperglycemia "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." [HPO:probinson]
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 HP:0012240 Increased intramyocellular lipid droplets "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590]
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 HP:0012364 Decreased urinary potassium "A decreased concentration of `potassium(1+)` (CHEBI:29103) in the `urine` (FMA:12274)." [HPO:probinson]
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 HP:0012726 Episodic hypokalemia "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson]
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 HP:0100647 Graves disease "An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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