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. Alternatively spliced transcript varia... See more...

Aliases for GABRA2 Gene

Aliases for GABRA2 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha2 2 3 5
  • Gamma-Aminobutyric Acid Receptor Subunit Alpha-2 3 4
  • GABA(A) Receptor Subunit Alpha-2 3 4
  • Gamma-Aminobutyric Acid Type A Receptor Alpha2 Subunit 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 2 2
  • GABA(A) Receptor, Alpha 2 2
  • EIEE78 3
  • GABRA2 5
  • DEE78 3

External Ids for GABRA2 Gene

Previous GeneCards Identifiers for GABRA2 Gene

  • GC04M046323
  • GC04M046561
  • GC04M046101
  • GC04M046167
  • GC04M046092
  • GC04M045946
  • GC04M045569

Summaries for GABRA2 Gene

Entrez Gene Summary for GABRA2 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GeneCards Summary for GABRA2 Gene

GABRA2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha2) is a Protein Coding gene. Diseases associated with GABRA2 include Developmental And Epileptic Encephalopathy 78 and Alcohol Dependence. Among its related pathways are GABA receptor activation and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA1.

UniProtKB/Swiss-Prot Summary for GABRA2 Gene

  • Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31032849). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:29961870, PubMed:31032849). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha2/beta2/gamma2 receptor exhibits synaptogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity).

Tocris Summary for GABRA2 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 GABRA2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRA2 Gene

Genomics for GABRA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRA2 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
GH04J046388 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 259.4 +85.6 85629 2 ZNF398 ZNF366 CTCF HLF EGR2 EZH2 ZBTB17 RAD21 POLR2A ZFHX2 GABRA2 ENSG00000249330 lnc-GABRG1-3 piR-56759-428 GABRG1
GH04J046426 Enhancer 0.6 Ensembl 11.9 +49.0 49029 0.4 CEBPA YY1 CEBPB EP300 RXRA JUND HNF4A SP1 PPARG HLF GABRA2 ENSG00000249330 GABRG1
GH04J046405 Enhancer 0.3 Ensembl ENCODE 8.2 +70.0 70029 0.8 GABRA2 ENSG00000249330 GABRG1
GH04J046507 Enhancer 0.2 ENCODE 16 -31.9 -31869 0.2 GABRA2 RNU6-412P piR-60031-044 piR-61614-080 ENSG00000249330 COX7B2
GH04J046491 Enhancer 0.3 FANTOM5 Ensembl 6.9 -17.1 -17149 1.2 RNU6-412P GABRA2 piR-61614-080 piR-60031-044 ENSG00000249330 COX7B2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRA2

Top Transcription factor binding sites by QIAGEN in the GABRA2 gene promoter:
  • GATA-1
  • Nkx6-1
  • p53
  • Pax-2
  • Pax-2a

Genomic Locations for GABRA2 Gene

Latest Assembly
chr4:46,243,548-46,475,230
(GRCh38/hg38)
Size:
231,683 bases
Orientation:
Minus strand

Previous Assembly
chr4:46,245,565-46,392,317
(GRCh37/hg19 by Entrez Gene)
Size:
146,753 bases
Orientation:
Minus strand

chr4:46,250,444-46,477,247
(GRCh37/hg19 by Ensembl)
Size:
226,804 bases
Orientation:
Minus strand

Genomic View for GABRA2 Gene

Genes around GABRA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA2 Gene

Proteins for GABRA2 Gene

  • Protein details for GABRA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47869-GBRA2_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-2
    Protein Accession:
    P47869
    Secondary Accessions:
    • A8K0U7
    • B7Z1H8
    • Q59G14

    Protein attributes for GABRA2 Gene

    Size:
    451 amino acids
    Molecular mass:
    51326 Da
    Quaternary structure:
    • Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with UBQLN1 (By similarity). Interacts with KIF21B (By similarity). Interacts with LHFPL4 (By similarity). Interacts with SHISA7; interaction leads to the regulation of GABA(A) receptor trafficking, channel deactivation kinetics and pharmacology (By similarity).
    SequenceCaution:
    • Sequence=BAD92532.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GABRA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRA2 Gene

Post-translational modifications for GABRA2 Gene

No data available for DME Specific Peptides for GABRA2 Gene

Domains & Families for GABRA2 Gene

Gene Families for GABRA2 Gene

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

Protein Domains for GABRA2 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 2 subunit signature

Suggested Antigen Peptide Sequences for GABRA2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78160 (A8K0U7_HUMAN)
  • cDNA FLJ54591, moderately similar to Gamma-aminobutyric-acid receptor alpha-2 subunit (B7Z1H8_HUMAN)
  • GABA(A) receptor subunit alpha-2 (GBRA2_HUMAN)
  • GABRA2 protein (Q8TBI4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P47869

UniProtKB/Swiss-Prot:

GBRA2_HUMAN :
  • The extracellular domain contributes to synaptic contact formation.
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA2 sub-subfamily.
Domain:
  • The extracellular domain contributes to synaptic contact formation.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA2 sub-subfamily.
genes like me logo Genes that share domains with GABRA2: view

Function for GABRA2 Gene

Molecular function for GABRA2 Gene

UniProtKB/Swiss-Prot Function:
Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31032849). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:29961870, PubMed:31032849). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha2/beta2/gamma2 receptor exhibits synaptogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by pentobarbital (By similarity). Inhibited by the antagonist bicuculline (By similarity).
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 2,subunit,component of a pentameric receptor mediating inhibitory neurotransmission

Phenotypes From GWAS Catalog for GABRA2 Gene

Gene Ontology (GO) - Molecular Function for GABRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 contributes_to GABA-A receptor activity IEA,IBA 21873635
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005237 inhibitory extracellular ligand-gated ion channel activity IBA 21873635
genes like me logo Genes that share ontologies with GABRA2: view
genes like me logo Genes that share phenotypes with GABRA2: view

Human Phenotype Ontology for GABRA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRA2 Gene

MGI Knock Outs for GABRA2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRA2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABRA2 Gene

Localization for GABRA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA2 Gene

Cell junction, synapse, postsynaptic cell membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein. Cytoplasmic vesicle membrane. Cell projection, dendrite.

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 GABRA2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GABRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRA2: view

Pathways & Interactions for GABRA2 Gene

genes like me logo Genes that share pathways with GABRA2: view

Pathways by source for GABRA2 Gene

1 Tocris pathway for GABRA2 Gene
2 Qiagen pathways for GABRA2 Gene
  • Akt Signaling
  • Sperm Motility

Gene Ontology (GO) - Biological Process for GABRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001505 regulation of neurotransmitter levels IMP 8391122
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0006836 neurotransmitter transport IMP 8391122
GO:0007165 signal transduction IBA 21873635
genes like me logo Genes that share ontologies with GABRA2: view

No data available for SIGNOR curated interactions for GABRA2 Gene

Drugs & Compounds for GABRA2 Gene

(138) Drugs for GABRA2 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flumazenil Approved Pharma Allosteric regulator, Antagonist, Target, 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

(6) Additional Compounds for GABRA2 Gene - From: HMDB, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ro154513
Allosteric regulator, Inverse agonist
Ro194603
Allosteric regulator, Inverse agonist
THIP
Agonist
3'-Hydroxyhexobarbital
  • 3'-Hydroxyhexobarbital, (R-(r*,s*))-isomer
  • 3'-Hydroxyhexobarbital, (r*,s*)-(+-)-isomer
  • 3'-Hydroxyhexobarbital, (S-(r*,r*))-isomer
  • 3'-Hydroxyhexobarbital, (S-(r*,s*))-isomer
  • 3'-Hydroxyhexobarbitone
427-29-2
Alpha-hydroxyalprazolam
  • a-Hydroxyalprazolam
  • Α-hydroxyalprazolam
  • alpha-Hydroxyalprazolam
37115-43-8

(4) Tocris Compounds for GABRA2 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 GABRA2: view

Transcripts for GABRA2 Gene

mRNA/cDNA for GABRA2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRA2

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - - - -
SP10: - - - - - -
SP11: - - - - - -
SP12: - - - - - -
SP13: -
SP14: - - - - - - - - -

Relevant External Links for GABRA2 Gene

GeneLoc Exon Structure for
GABRA2

Expression for GABRA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABRA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA2 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.2), Brain - Caudate (basal ganglia) (x5.8), Brain - Amygdala (x5.8), Brain - Frontal Cortex (BA9) (x5.6), Brain - Anterior cingulate cortex (BA24) (x5.3), Brain - Putamen (basal ganglia) (x5.1), and Brain - Cortex (x4.9).

Protein differential expression in normal tissues from HIPED for GABRA2 Gene

This gene is overexpressed in Frontal cortex (37.7), Cerebrospinal fluid (23.8), and Retina (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GABRA2 Gene



Protein tissue co-expression partners for GABRA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRA2

SOURCE GeneReport for Unigene cluster for GABRA2 Gene:

Hs.116250

Evidence on tissue expression from TISSUES for GABRA2 Gene

  • Nervous system(4.7)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with GABRA2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRA2 Gene

Orthologs for GABRA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABRA2 29 30
  • 99.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRA2 29 30
  • 94.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRA2 30
  • 94 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GABRA2 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRA2 29 30
  • 91.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabra2 29 16 30
  • 90.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabra2 29
  • 89.73 (n)
Chicken
(Gallus gallus)
Aves GABRA2 29 30
  • 83.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRA2 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabra2 29
  • 76.59 (n)
Zebrafish
(Danio rerio)
Actinopterygii GABRA2 (3 of 3) 30
  • 87 (a)
OneToMany
CABZ01072856.1 30
  • 83 (a)
OneToMany
GABRA2 (2 of 3) 30
  • 77 (a)
OneToMany
LOC100150704 29
  • 72.8 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7711 29
Fruit Fly
(Drosophila melanogaster)
Insecta Grd 31
  • 47 (a)
Worm
(Caenorhabditis elegans)
Secernentea glc-4 31
  • 34 (a)
gbr-5 31
  • 33 (a)
glc-1 31
  • 33 (a)
F09G2.5 31
  • 26 (a)
Species where no ortholog for GABRA2 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)
  • 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 GABRA2 Gene

ENSEMBL:
Gene Tree for GABRA2 (if available)
TreeFam:
Gene Tree for GABRA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABRA2: view image
Alliance of Genome Resources:
Additional Orthologs for GABRA2

Paralogs for GABRA2 Gene

(24) SIMAP similar genes for GABRA2 Gene using alignment to 12 proteins:

  • GBRA2_HUMAN
  • B7Z1H8_HUMAN
  • D6RAA9_HUMAN
  • D6RB77_HUMAN
  • D6RBK9_HUMAN
  • D6RBL7_HUMAN
  • D6RCS5_HUMAN
  • E9PBQ7_HUMAN
  • G5E9Z6_HUMAN
  • H0Y9V8_HUMAN
  • Q4W5L8_HUMAN
  • Q8TBI4_HUMAN
genes like me logo Genes that share paralogs with GABRA2: view

Variants for GABRA2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA2 Gene

GBRA2_HUMAN-P47869
Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism [MIM:103780].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRA2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1001602 Uncertain Significance: not provided 46,262,090(-) T/C
NM_000807.4(GABRA2):c.895A>G (p.Ser299Gly)
MISSENSE
976220 Uncertain Significance: Developmental and epileptic encephalopathy, 78 46,312,533(-) GA/G
NM_000807.4(GABRA2):c.438del (p.Arg147fs)
FRAMESHIFT
976773 Likely Pathogenic: Developmental and epileptic encephalopathy, 78 46,262,110(-) G/A
NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile)
MISSENSE
rs1243977956 Pathogenic: Developmental and epileptic encephalopathy, 78 46,262,010(-) G/T
NM_000807.4(GABRA2):c.975C>A (p.Phe325Leu)
MISSENSE
rs1281490675 Pathogenic: Developmental and epileptic encephalopathy, 78 46,262,114(-) G/C
NM_000807.4(GABRA2):c.871C>G (p.Leu291Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GABRA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GABRA2 Gene

Variant ID Type Subtype PubMed ID
esv2641107 CNV deletion 19546169
nsv1139243 CNV deletion 24896259
nsv475841 CNV novel sequence insertion 20440878
nsv527418 CNV loss 19592680

Variation tolerance for GABRA2 Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRA2
Leiden Open Variation Database (LOVD)
GABRA2

SNP Genotyping and Copy Number Assays for research

Disorders for GABRA2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for GABRA2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
developmental and epileptic encephalopathy 78
  • dee78
alcohol dependence
  • alcoholism
undetermined early-onset epileptic encephalopathy
  • undetermined eoee
cannabis dependence
  • marijuana abuse
substance abuse
  • substance-related disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GBRA2_HUMAN
  • Epileptic encephalopathy, early infantile, 78 (EIEE78) [MIM:618557]: 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. EIEE78 is an autosomal dominant form characterized by onset of refractory seizures in the first days or months of life. Clinical features include severe developmental delay, hypotonia, microcephaly, cortical visual impairment and profound intellectual disability. Some patients manifest a less severe phenotype characterized by pharmacoresponsive epilepsy, autism spectrum disorder and moderate intellectual disability. {ECO:0000269 PubMed:29422393, ECO:0000269 PubMed:29961870, ECO:0000269 PubMed:31032849}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GABRA2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GABRA2: view

No data available for Genatlas for GABRA2 Gene

Publications for GABRA2 Gene

  1. Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. (PMID: 15024690) Edenberg HJ … Begleiter H (American journal of human genetics 2004) 3 4 40 72
  2. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. (PMID: 29961870) Butler KM … Escayg A (Brain : a journal of neurology 2018) 3 4 72
  3. GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence. (PMID: 17207817) Soyka M … Bondy B (Journal of psychiatric research 2008) 3 22 40
  4. Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. (PMID: 31032849) Maljevic S … Nava C (Brain : a journal of neurology 2019) 4 72
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 40

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