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. Transcript variants utilizing three di... See more...

Aliases for GABRA5 Gene

Aliases for GABRA5 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 5 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Alpha-5 3 4
  • GABA(A) Receptor Subunit Alpha-5 3 4
  • Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit 3
  • GABA(A) Receptor, Alpha 5 2
  • EIEE79 3
  • GABRA5 5

External Ids for GABRA5 Gene

Previous GeneCards Identifiers for GABRA5 Gene

  • GC15P023334
  • GC15P020091
  • GC15P024593
  • GC15P024722
  • GC15P024663
  • GC15P027112
  • GC15P005288

Summaries for GABRA5 Gene

Entrez Gene Summary for GABRA5 Gene

  • 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. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRA5 Gene

GABRA5 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5) is a Protein Coding gene. Diseases associated with GABRA5 include Epileptic Encephalopathy, Early Infantile, 79 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Nicotine addiction and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is GABRA3.

UniProtKB/Swiss-Prot Summary for GABRA5 Gene

  • Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671).

Tocris Summary for GABRA5 Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRA5 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRA5 Gene

Genomics for GABRA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J026866 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 610.9 +0.5 490 1.6 CTCF PATZ1 EZH2 RAD21 ZBTB26 FOSL2 SIN3A TAF1 GABRA5 HSALNG0104626 piR-50437-197 GABRB3
GH15J026864 Enhancer 0.8 Ensembl ENCODE 613.4 -1.9 -1941 0.7 CTCF REST RAD21 MNT CEBPB USF1 SMC3 YY1 CEBPG ZNF654 GABRA5 RPL9P26 lnc-OCA2-9 GABRB3 ATP10A
GH15J026838 Enhancer 0.5 ENCODE 29.4 -28.0 -27962 0.2 CTCF KDM1A ZNF341 RAD21 ZNF143 XRCC5 TBP BACH1 GABRA5 piR-33735-029 RPL9P26 lnc-OCA2-9 GABRB3 ATP10A
GH15J026891 Promoter/Enhancer 0.9 ENCODE CraniofacialAtlas 12 +24.6 24643 0.2 CTCF PKNOX1 REST RAD21 SCRT2 YY1 ZNF654 ZNF143 MYC MAX GABRA5 hsa-miR-5095-150 piR-52079-061 GABRB3
GH15J026845 Enhancer 0.2 Ensembl 26.9 -20.5 -20510 1.2 GABRA5 RPL9P26 lnc-OCA2-9 piR-33735-029 GABRB3 ATP10A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRA5

Top Transcription factor binding sites by QIAGEN in the GABRA5 gene promoter:
  • AML1a
  • c-Myc
  • HSF1 (long)
  • HSF1short
  • Max
  • Max1
  • MIF-1
  • NCX
  • SRF
  • SRF (504 AA)

Genomic Locations for GABRA5 Gene

Genomic Locations for GABRA5 Gene
chr15:26,866,911-26,949,210
(GRCh38/hg38)
Size:
82,300 bases
Orientation:
Plus strand
chr15:27,111,510-27,194,357
(GRCh37/hg19)
Size:
82,848 bases
Orientation:
Plus strand

Genomic View for GABRA5 Gene

Genes around GABRA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA5 Gene

Proteins for GABRA5 Gene

  • Protein details for GABRA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31644-GBRA5_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-5
    Protein Accession:
    P31644
    Secondary Accessions:
    • A8K338
    • Q14DC2
    • Q53XL6
    • Q9NYT3
    • Q9NYT4
    • Q9NYT5

    Protein attributes for GABRA5 Gene

    Size:
    462 amino acids
    Molecular mass:
    52146 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor subunits: alpha, beta, gamma, delta, and rho.

    Three dimensional structures from OCA and Proteopedia for GABRA5 Gene

neXtProt entry for GABRA5 Gene

Post-translational modifications for GABRA5 Gene

  • Glycosylation at Asn45, Asn145, Asn207, and Asn236
  • Ubiquitination at Lys355
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRA5 Gene

Domains & Families for GABRA5 Gene

Gene Families for GABRA5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GABRA5 Gene

InterPro:
Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric-acid A receptor alpha subunit signature
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Gamma-aminobutyric-acid A receptor alpha 5 subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for GABRA5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56835, highly similar to Gamma-aminobutyric-acid receptor alpha-5 subunit (B4E1A2_HUMAN)
  • GABA(A) receptor subunit alpha-5 (GBRA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P31644

UniProtKB/Swiss-Prot:

GBRA5_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA5 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA5 sub-subfamily.
genes like me logo Genes that share domains with GABRA5: view

Function for GABRA5 Gene

Molecular function for GABRA5 Gene

UniProtKB/Swiss-Prot Function:
Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671).
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 5,mainly expressed in the brain,with three isoforms,region specific,may be involved in the susceptibility to bipolar affective disorder (? MAFD10),subunit,component of a pentameric receptor mediating inhibitory neurotransmission

Phenotypes From GWAS Catalog for GABRA5 Gene

Gene Ontology (GO) - Molecular Function for GABRA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 contributes_to GABA-A receptor activity IBA 21873635
GO:0005215 transporter activity TAS 1321750
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with GABRA5: view
genes like me logo Genes that share phenotypes with GABRA5: view

Human Phenotype Ontology for GABRA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRA5 Gene

MGI Knock Outs for GABRA5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRA5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABRA5 Gene

Localization for GABRA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA5 Gene

Cell junction, synapse, postsynaptic cell membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRA5 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 4
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GABRA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GABRA5: view

Pathways & Interactions for GABRA5 Gene

genes like me logo Genes that share pathways with GABRA5: view

Pathways by source for GABRA5 Gene

1 Tocris pathway for GABRA5 Gene
2 Qiagen pathways for GABRA5 Gene
  • Akt Signaling
  • Sperm Motility

Gene Ontology (GO) - Biological Process for GABRA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007214 gamma-aminobutyric acid signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with GABRA5: view

No data available for SIGNOR curated interactions for GABRA5 Gene

Drugs & Compounds for GABRA5 Gene

(135) Drugs for GABRA5 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flumazenil Approved Pharma Allosteric regulator, Antagonist, Partial agonist, Target, Target, antagonist, positive allosteric modulator Benzodiazepine antagonist 35
Flunitrazepam Approved, Illicit Pharma Allosteric regulator, Full agonist, Target, Target, positive allosteric modulator, ligand, agonist 0
Bromazepam Approved, Illicit, Investigational Pharma Target, Target, positive allosteric modulator, ligand, binder 3
Butabarbital Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 0
Butalbital Approved, Illicit Pharma Target, Target, potentiator, positive allosteric modulator, antagonist 0

(7) Additional Compounds for GABRA5 Gene - From: HMDB, IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
[<sup>3</sup>H]RY80
Ro154513
Allosteric regulator, Inverse agonist, Full agonist
Ro194603
Allosteric regulator, Inverse agonist
THIP
Agonist, Full agonist, Antagonist

(4) Tocris Compounds for GABRA5 Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5
genes like me logo Genes that share compounds with GABRA5: view

Transcripts for GABRA5 Gene

mRNA/cDNA for GABRA5 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRA5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA5 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5: - - - - - -
SP6:

Relevant External Links for GABRA5 Gene

GeneLoc Exon Structure for
GABRA5

Expression for GABRA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABRA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA5 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x12.7), Brain - Anterior cingulate cortex (BA24) (x6.8), Brain - Hippocampus (x6.1), Brain - Caudate (basal ganglia) (x4.9), Brain - Frontal Cortex (BA9) (x4.4), Brain - Cortex (x4.4), Brain - Amygdala (x4.3), and Brain - Putamen (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for GABRA5 Gene

This gene is overexpressed in Frontal cortex (32.3), Fetal Brain (18.5), and Brain (18.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GABRA5 Gene



Protein tissue co-expression partners for GABRA5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRA5

SOURCE GeneReport for Unigene cluster for GABRA5 Gene:

Hs.24969

Evidence on tissue expression from TISSUES for GABRA5 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with GABRA5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRA5 Gene

Orthologs for GABRA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABRA5 31
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GABRA5 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRA5 30 31
  • 91.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRA5 30 31
  • 90.09 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabra5 30 17 31
  • 87.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabra5 30
  • 87.23 (n)
Oppossum
(Monodelphis domestica)
Mammalia GABRA5 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GABRA5 30 31
  • 79.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRA5 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabra5 30
  • 72.37 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabra5 30 31
  • 72.58 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Grd 32
  • 46 (a)
CG8916 32
  • 43 (a)
Worm
(Caenorhabditis elegans)
Secernentea glc-1 32
  • 33 (a)
gbr-5 32
  • 30 (a)
Species where no ortholog for GABRA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GABRA5 Gene

ENSEMBL:
Gene Tree for GABRA5 (if available)
TreeFam:
Gene Tree for GABRA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABRA5: view image

Paralogs for GABRA5 Gene

(23) SIMAP similar genes for GABRA5 Gene using alignment to 8 proteins:

  • GBRA5_HUMAN
  • B4E1A2_HUMAN
  • G3V296_HUMAN
  • G3V2G8_HUMAN
  • G3V2K2_HUMAN
  • G3V2Q9_HUMAN
  • G3V2Y5_HUMAN
  • G3V408_HUMAN
genes like me logo Genes that share paralogs with GABRA5: view

Variants for GABRA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRA5 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
689391 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 26,943,217(+) G/C MISSENSE_VARIANT
689392 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 26,943,217(+) G/T MISSENSE_VARIANT
689393 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 26,948,082(+) C/T MISSENSE_VARIANT
710047 Benign: not provided 26,948,185(+) G/A SYNONYMOUS_VARIANT
711949 Benign: not provided 26,943,354(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GABRA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for GABRA5 Gene

Variant ID Type Subtype PubMed ID
dgv4398n54 CNV gain 21841781
dgv4399n54 CNV gain 21841781
dgv4400n54 CNV gain+loss 21841781
dgv4401n54 CNV loss 21841781
dgv4402n54 CNV gain 21841781
dgv4403n54 CNV gain 21841781
dgv4404n54 CNV gain 21841781
dgv724e212 CNV loss 25503493
esv23657 CNV loss 19812545
esv2668795 CNV deletion 23128226
nsv568620 CNV gain+loss 21841781
nsv568634 CNV loss 21841781

Variation tolerance for GABRA5 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRA5 Gene

Human Gene Mutation Database (HGMD)
GABRA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA5 Gene

Disorders for GABRA5 Gene

MalaCards: The human disease database

(18) MalaCards diseases for GABRA5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GBRA5_HUMAN
  • Epileptic encephalopathy, early infantile, 79 (EIEE79) [MIM:618559]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum. {ECO:0000269 PubMed:29961870, ECO:0000269 PubMed:31056671}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GABRA5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GABRA5: view

No data available for Genatlas for GABRA5 Gene

Publications for GABRA5 Gene

  1. An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. (PMID: 16674551) Ashley-Koch AE … Pericak-Vance MA (Annals of human genetics 2006) 3 23 41
  2. The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. (PMID: 15882799) Otani K … Kuroda S (Neuroscience letters 2005) 3 23 41
  3. Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. (PMID: 9205108) Kim Y … Lalande M (Genomics 1997) 3 4 23
  4. FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. (PMID: 8388764) Knoll JH … Lalande M (Human molecular genetics 1993) 3 4 23
  5. Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit. (PMID: 1321750) Wingrove P … Whiting P (Biochemical Society transactions 1992) 2 3 4

Products for GABRA5 Gene

Sources for GABRA5 Gene