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Aliases for GABRG2 Gene

Aliases for GABRG2 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2 2 3 5
  • GABA(A) Receptor Subunit Gamma-2 3 4
  • GABA(A) Receptor, Gamma 2 3
  • GABA(A) Receptor 2
  • Gamma 2 2
  • GEFSP3 3
  • ECA2 3
  • CAE2 3

External Ids for GABRG2 Gene

Previous GeneCards Identifiers for GABRG2 Gene

  • GC05P161612
  • GC05P162002
  • GC05P161430
  • GC05P161475
  • GC05P161427
  • GC05P156587
  • GC05P161494

Summaries for GABRG2 Gene

Entrez Gene Summary for GABRG2 Gene

  • This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRG2 Gene

GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit) is a Protein Coding gene. Diseases associated with GABRG2 include epilepsy, childhood absence 2 and epilepsy, generalized, with febrile seizures plus, type 3. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA4.

UniProtKB/Swiss-Prot for GABRG2 Gene

  • Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Tocris Summary for GABRG2 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 GABRG2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRG2 Gene

Genomics for GABRG2 Gene

Regulatory Elements for GABRG2 Gene

Genomic Location for GABRG2 Gene

Chromosome:
5
Start:
162,067,540 bp from pter
End:
162,155,539 bp from pter
Size:
88,000 bases
Orientation:
Plus strand

Genomic View for GABRG2 Gene

Genes around GABRG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRG2 Gene

Proteins for GABRG2 Gene

  • Protein details for GABRG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18507-GBRG2_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit gamma-2
    Protein Accession:
    P18507
    Secondary Accessions:
    • F5HB82
    • Q6GRL6
    • Q6PCC3
    • Q9UDB3
    • Q9UN15

    Protein attributes for GABRG2 Gene

    Size:
    467 amino acids
    Molecular mass:
    54162 Da
    Quaternary structure:
    • Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with GABARAP.
    Miscellaneous:
    • This subunit carries the benzodiazepine binding site.

    Alternative splice isoforms for GABRG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRG2 Gene

Proteomics data for GABRG2 Gene at MOPED

Post-translational modifications for GABRG2 Gene

  • Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability.
  • Glycosylation at Asn 52, Asn 129, and Asn 247
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRG2 Gene

Antibody Products

  • R&D Systems Antibodies for GABRG2 (GABA-A R gamma 2)

No data available for DME Specific Peptides for GABRG2 Gene

Domains & Families for GABRG2 Gene

Gene Families for GABRG2 Gene

Suggested Antigen Peptide Sequences for GABRG2 Gene

Graphical View of Domain Structure for InterPro Entry

P18507

UniProtKB/Swiss-Prot:

GBRG2_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 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. GABRG2 sub-subfamily.
genes like me logo Genes that share domains with GABRG2: view

Function for GABRG2 Gene

Molecular function for GABRG2 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,gamma 2subunit,component of a pentameric receptor mediating inhibitory neurotransmission,complexing with DRD5 and promoting mutually inhibitory functional interactions between these receptor systems,putatively involved in the physiological dependance on alcohol,and in the maintenance of psychomotor disease states
UniProtKB/Swiss-Prot Function:
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Gene Ontology (GO) - Molecular Function for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008503 benzodiazepine receptor activity TAS 2538761
genes like me logo Genes that share ontologies with GABRG2: view
genes like me logo Genes that share phenotypes with GABRG2: view

Human Phenotype Ontology for GABRG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRG2 Gene

MGI Knock Outs for GABRG2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABRG2 Gene

Localization for GABRG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRG2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABRG2 Gene COMPARTMENTS Subcellular localization image for GABRG2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GABRG2: view

Pathways & Interactions for GABRG2 Gene

genes like me logo Genes that share pathways with GABRG2: view

Gene Ontology (GO) - Biological Process for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006821 chloride transport IEA --
GO:0009791 post-embryonic development IEA --
GO:0030534 adult behavior IEA --
GO:0051932 synaptic transmission, GABAergic ISS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with GABRG2: view

No data available for SIGNOR curated interactions for GABRG2 Gene

Drugs & Compounds for GABRG2 Gene

(60) Drugs for GABRG2 Gene - From: DrugBank, Tocris, ApexBio, Novoseek, HMDB, IUPHAR, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 4
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 19

(9) Additional Compounds for GABRG2 Gene - From: Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Isoguvacine hydrochloride
68547-97-7
TACA
38090-53-8
genes like me logo Genes that share compounds with GABRG2: view

Transcripts for GABRG2 Gene

Unigene Clusters for GABRG2 Gene

Gamma-aminobutyric acid (GABA) A receptor, gamma 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GABRG2 Gene

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

Relevant External Links for GABRG2 Gene

GeneLoc Exon Structure for
GABRG2
ECgene alternative splicing isoforms for
GABRG2

Expression for GABRG2 Gene

mRNA expression in normal human tissues for GABRG2 Gene

mRNA differential expression in normal tissues according to GTEx for GABRG2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.2), Brain - Anterior cingulate cortex (BA24) (x6.9), Brain - Cortex (x5.4), Brain - Hypothalamus (x5.1), and Brain - Cerebellar Hemisphere (x4.4).

Protein differential expression in normal tissues from HIPED for GABRG2 Gene

This gene is overexpressed in Frontal cortex (36.6) and Fetal Brain (30.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABRG2 Gene



SOURCE GeneReport for Unigene cluster for GABRG2 Gene Hs.7195

genes like me logo Genes that share expression patterns with GABRG2: view

Protein tissue co-expression partners for GABRG2 Gene

- Elite partner

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GABRG2 Gene

Orthologs for GABRG2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRG2 35
  • 97.82 (n)
  • 97.44 (a)
cow
(Bos Taurus)
Mammalia GABRG2 36
  • 99 (a)
OneToOne
GABRG2 35
  • 93.26 (n)
  • 98.53 (a)
dog
(Canis familiaris)
Mammalia GABRG2 35
  • 93.4 (n)
  • 99.16 (a)
GABRG2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrg2 16
Gabrg2 35
  • 91 (n)
  • 99.16 (a)
Gabrg2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRG2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRG2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrg2 35
  • 90.27 (n)
  • 99.14 (a)
chicken
(Gallus gallus)
Aves GABRG2 35
  • 80.73 (n)
  • 92.62 (a)
GABRG2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRG2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrg2 35
  • 77.64 (n)
  • 88.82 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.27735 35
gabrg2 35
  • 72.53 (n)
  • 84.32 (a)
gabrg2 36
  • 84 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8916 36
  • 26 (a)
ManyToMany
Grd 36
  • 26 (a)
ManyToMany
Grd 37
  • 43 (a)
Rdl 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea lgc-36 36
  • 24 (a)
ManyToMany
lgc-37 36
  • 33 (a)
ManyToMany
C39B10.2 37
  • 34 (a)
glc-4 37
  • 33 (a)
T15B7.16 37
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
ManyToMany
Species with no ortholog for GABRG2:
  • A. gosspyii yeast (Ashbya 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 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 GABRG2 Gene

ENSEMBL:
Gene Tree for GABRG2 (if available)
TreeFam:
Gene Tree for GABRG2 (if available)

Paralogs for GABRG2 Gene

Paralogs for GABRG2 Gene

genes like me logo Genes that share paralogs with GABRG2: view

Variants for GABRG2 Gene

Sequence variations from dbSNP and Humsavar for GABRG2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_014265 Epilepsy, childhood absence 2 (ECA2), Febrile seizures, familial, 8 (FEB8)
VAR_014266 Generalized epilepsy with febrile seizures plus 3 (GEFS+3)
VAR_038602 Febrile seizures, familial, 8 (FEB8)
rs17855003 - 162,149,255(+) CTTGC(A/G)TTATT reference, missense
VAR_065226 -

Structural Variations from Database of Genomic Variants (DGV) for GABRG2 Gene

Variant ID Type Subtype PubMed ID
nsv883074 CNV Loss 21882294
nsv883078 CNV Loss 21882294
dgv6366n71 CNV Loss 21882294
esv22373 CNV Loss 19812545
esv2667841 CNV Deletion 23128226
esv2660260 CNV Deletion 23128226
esv2664892 CNV Deletion 23128226

Variation tolerance for GABRG2 Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRG2 Gene

HapMap Linkage Disequilibrium report
GABRG2
Human Gene Mutation Database (HGMD)
GABRG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRG2 Gene

Disorders for GABRG2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for GABRG2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, childhood absence 2
  • epilepsy, childhood absence, susceptibility to, 2
epilepsy, generalized, with febrile seizures plus, type 3
  • febrile seizures, familial, 8
epilepsy, idiopathic generalized 11
  • epilepsy, juvenile myoclonic 8
leukoencephalopathy with ataxia
  • lkpat
benign epilepsy with centrotemporal spikes
  • bcects
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GBRG2_HUMAN
  • Epilepsy, childhood absence 2 (ECA2) [MIM:607681]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. {ECO:0000269 PubMed:11326275}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Febrile seizures, familial, 8 (FEB8) [MIM:611277]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269 PubMed:16924025}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269 PubMed:11326274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GABRG2

Genetic Association Database (GAD)
GABRG2
Human Genome Epidemiology (HuGE) Navigator
GABRG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRG2
genes like me logo Genes that share disorders with GABRG2: view

No data available for Genatlas for GABRG2 Gene

Publications for GABRG2 Gene

  1. Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. (PMID: 20485450) Shi X. … Hirose S. (J. Hum. Genet. 2010) 3 4 48 67
  2. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  3. Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. (PMID: 19236456) Fendri-Kriaa N. … Triki C. (Eur. J. Neurol. 2009) 3 23
  4. Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? (PMID: 19292758) Sijben A.E. … Scheffer I.E. (Epilepsia 2009) 3 23
  5. Polymorphism in cytochrome P450 2E1 and interaction with other genetic risk factors and susceptibility to alcoholic liver cirrhosis. (PMID: 19428381) Khan A.J. … Parmar D. (Mutat. Res. 2009) 3 23

Products for GABRG2 Gene

Sources for GABRG2 Gene

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