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GABRG2 Gene(Protein Coding)

Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit

GCID:
GC05P162000
GIFtS:
65
Genes Participants
UDN Logo

Aliases for GABRG2 Gene

Aliases for GABRG2 Gene

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

External Ids for GABRG2 Gene

Previous GeneCards Identifiers for GABRG2 Gene

  • GC05P161612
  • GC05P162002
  • GC05P161430
  • GC05P161475
  • GC05P161427
  • GC05P156587
  • GC05P161494
  • GC05P162067

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 Ligand-gated ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRG1.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRG2 Gene

Genomics for GABRG2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for GABRG2 Gene

Enhancers for GABRG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G161697 0.3 FANTOM5 1.5 -302.9 -302867 0.2 GABRA6 GABRB2 GABRA1 GABRG2 ENSG00000253403 GLRXP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABRG2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GABRG2 gene promoter:

Genomic Location for GABRG2 Gene

Chromosome:
5
Start:
162,000,057 bp from pter
End:
162,162,977 bp from pter
Size:
162,921 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 Structure • Gene Density

RefSeq DNA sequence for GABRG2 Gene

Proteins for GABRG2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 (PubMed:2538761). Interacts with GABARAP (PubMed:9892355). Interacts with KIF21B (By similarity).
    Miscellaneous:
    • This subunit carries the benzodiazepine binding site.

    Alternative splice isoforms for GABRG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRG2 Gene

Protein Expression for GABRG2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GABRG2 Gene

  • Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability.
  • Glycosylation at isoforms=2, 352, Asn129, and Asn247
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRG2 Gene

Domains & Families for GABRG2 Gene

Gene Families for GABRG2 Gene

HGNC:
IUPHAR :

Protein Domains for GABRG2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GABRG2 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0004890 GABA-A receptor activity ISS --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity ISS --
GO:0005515 protein binding IPI 9892355
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

Inhibitory RNA Products

Clone Products

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

Flow Cytometry 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. Cell projection, dendrite. Cytoplasmic vesicle membrane.

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 GABRG2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS,TAS --
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 GABRG2: view

Pathways & Interactions for GABRG2 Gene

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

Pathways by source for GABRG2 Gene

1 PharmGKB pathway for GABRG2 Gene
1 R&D Systems pathway for GABRG2 Gene
1 Tocris pathway for GABRG2 Gene
2 Qiagen pathways for GABRG2 Gene

Gene Ontology (GO) - Biological Process for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2538761
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA,TAS --
GO:0007268 chemical synaptic transmission IEA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lorazepam Approved Pharma agonist, Target, positive allosteric modulator 124
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 5
Cinolazepam Approved Pharma binder, Target, potentiator 0

(6) Additional Compounds for GABRG2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
 16887-00-6

(5) Tocris Compounds for GABRG2 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist 40709-69-1
(-)-Bicuculline methochloride Water-soluble GABAA antagonist 53552-05-9
Muscimol Potent GABAA agonist 2763-96-4
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist 104104-50-9
TP 003 Functionally selective GABAA receptor (alpha3 subtype) partial agonist 628690-75-5

(99) ApexBio Compounds for GABRG2 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide 40709-69-1
(-)-Bicuculline methobromide 73604-30-5
(-)-Bicuculline methochloride 53552-05-9
(+)-Bicuculline GABAA receptor antagonist,competitve and classical 485-49-4
(±)-Nipecotic acid 60252-41-7
(R)-baclofen 69308-37-8
(S)-SNAP 5114 GABA uptake inhibitor 157604-55-2
17-PA 694438-95-4
2-Hydroxysaclofen 117354-64-0
3-Methyl-GABA 71424-95-8
AA 29504 GABAA receptor modulator 945828-50-2
Acamprosate calcium GABA receptor agonist and modulator of glutamatergic systems 77337-73-6
Allopregnanolone GABA-A receptor activator, selective 516-54-1
Alphaxalone 23930-19-0
AWD 131-138 GABAA receptor agonist 188116-07-6
Bretazenil 84379-13-5
CGP 46381 123691-14-5
CGP 52432 139667-74-6
CGP 54626 hydrochloride 149184-21-4
CGP 7930 57717-80-3
CGS 20625 111205-55-1
Chlormethiazole hydrochloride 6001-74-7
CI 966 hydrochloride 110283-66-4
CL 218872 66548-69-4
Dihydroergotoxine mesylate 8067-24-1
DMCM hydrochloride 1215833-62-7
DPNI-caged-GABA activates GABAA receptor 927866-58-8
DS2 374084-31-8
Etifoxine GABAA receptor potentiator 21715-46-8
Etifoxine hydrochloride GABAA receptor potentiator 56776-32-0
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Etomidate hydrochloride 53188-20-8
FG 7142 78538-74-6
FGIN-1-27 142720-24-9
FGIN-1-43 145040-29-5
Flumazenil Benzodiazepine antagonist 78755-81-4
Flunitrazepam 1622-62-4
Furosemide GABAA receptors antagonist 54-31-9
Gabapentin GABA enhancer 60142-96-3
Ganaxolone 38398-32-2
GBLD 345 benzodiazepine receptor agonist, potent 122479-08-7
GS 39783 39069-52-8
Guvacine hydrochloride 6027-91-4
Hispidulin 1447-88-7
Indiplon 325715-02-4
Isoguvacine hydrochloride 68547-97-7
L-655,708 130477-52-0
L-838,417 286456-42-6
Lorazepam 846-49-1
Loreclezole hydrochloride 117857-45-1
MK 0343 233275-76-8
MRK 016 783331-24-8
Muscimol GABAA receptor agonist, potent 2763-96-4
N-ArachidonylGABA 128201-89-8
NCS-382 520505-01-5
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
NNC 05-2090 hydrochloride 184845-18-9
NNC 711 145645-62-1
Ocinaplon 96604-21-6
Org 20599 156685-94-8
Pentobarbital sodium salt 57-33-0
Pentylenetetrazole 54-95-5
Phaclofen 114012-12-3
Phenobarbital sodium salt 57-30-7
PHP 501 trifluoroacetate 1236105-75-1
Picrotoxin 124-87-8
PK 11195 85532-75-8
Pregnanolone 128-20-1
rac BHFF 123557-91-5
Retigabine dihydrochloride Antiepileptic compound 150812-13-8
Ro 15-4513 91917-65-6
Ro 19-4603 99632-94-7
RuBi GABA trimethylphosphine
RuBi-GABA 1028141-88-9
Rufinamide 106308-44-5
Saclofen 125464-42-8
SB 205384 positive GABAA receptor modulator 160296-13-9
SCS 3232-36-8
SKF 89976A hydrochloride 85375-15-1
SKF 97541 127729-35-5
SR 95531 hydrobromide 104104-50-9
TACA 38090-53-8
TB 21007 207306-50-1
TCS 1105 185391-33-7
TCS 1205 355022-97-8
THIP hydrochloride 85118-33-8
TP 003 628690-75-5
TPMPA 182485-36-5
Tracazolate hydrochloride 1135210-68-2
trans-4-Hydroxycrotonic acid 24587-49-3
U 89843A 157013-85-9
U 90042 134516-99-7
U 93631 152273-12-6
Valerenic acid 3569-10-6
ZAPA sulfate 371962-01-5
ZK 93423 hydrochloride GABAA receptor agonist 1216574-52-5
ZK 93426 hydrochloride 1216792-30-1
β-CCB 84454-35-3
genes like me logo Genes that share compounds with GABRG2: view

Transcripts for GABRG2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for GABRG2 Gene

(3) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(72) Selected AceView cDNA sequences:
(28) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GABRG2 Gene

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

Inhibitory RNA Products

Clone Products

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

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GABRG2 Gene

mRNA expression in normal human tissues for GABRG2 Gene
mRNA expression by BioGPS for GABRG2 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for GABRG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRG2 Gene:

GABRG2

SOURCE GeneReport for Unigene cluster for GABRG2 Gene:

Hs.7195

Evidence on tissue expression from TISSUES for GABRG2 Gene

  • Nervous system(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRG2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GABRG2: view

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
oppossum
(Monodelphis domestica)
 Mammalia GABRG2 35
  • 99 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia GABRG2 34
  • 97.82 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia GABRG2 35
  • 97 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia GABRG2 34 35
  • 93.4 (n)
cow
(Bos Taurus)
 Mammalia GABRG2 34 35
  • 93.26 (n)
mouse
(Mus musculus)
 Mammalia Gabrg2 34 16 35
  • 91 (n)
rat
(Rattus norvegicus)
 Mammalia Gabrg2 34
  • 90.27 (n)
chicken
(Gallus gallus)
 Aves GABRG2 34 35
  • 80.73 (n)
lizard
(Anolis carolinensis)
 Reptilia GABRG2 35
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia gabrg2 34
  • 77.64 (n)
zebrafish
(Danio rerio)
 Actinopterygii gabrg2 34 35
  • 72.53 (n)
Dr.27735 34
fruit fly
(Drosophila melanogaster)
 Insecta Grd 36 35
  • 43 (a)
Rdl 36
  • 37 (a)
CG8916 35
  • 26 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea C39B10.2 36
  • 34 (a)
glc-4 36
  • 33 (a)
lgc-37 35
  • 33 (a)
 ManyToMany
T15B7.16 36
  • 29 (a)
lgc-36 35
  • 24 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 26 (a)
 ManyToMany
Species where no ortholog for GABRG2 was found in the sources mined by GeneCards:
  • 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

(23) SIMAP similar genes for GABRG2 Gene using alignment to 5 proteins:

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
rs121909672 Pathogenic, Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277] 162,149,168(+) CCCCA(A/T)GGTCT reference, missense
rs267606837 Pathogenic, Febrile seizures, familial, 8 (FEB8) [MIM:611277] 162,097,839(+) ATGGT(C/G)GAGTG reference, missense
rs28933070 Epilepsy, childhood absence 2 (ECA2) [MIM:607681], Febrile seizures, familial, 8 (FEB8) [MIM:611277]
rs121909673 Pathogenic 162,093,965(+) ACTTC(A/G)GCCTG reference, missense
rs121909674 Pathogenic 162,153,132(+) CCATT(C/T)AAATG reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv22373 CNV loss 19812545
esv2660260 CNV deletion 23128226
esv2664892 CNV deletion 23128226
esv2667841 CNV deletion 23128226
esv3566920 CNV deletion 23714750
esv3607412 CNV gain 21293372
esv3607413 CNV loss 21293372
esv3607414 CNV loss 21293372
esv3607415 CNV loss 21293372
nsv473824 CNV novel sequence insertion 20440878

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

Human Gene Mutation Database (HGMD)
GABRG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRG2

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

Disorders for GABRG2 Gene

MalaCards: The human disease database

(26) 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
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
generalized epilepsy with febrile seizures plus
  • gefs+
dravet syndrome
  • dravet syndrome, modifier of
- 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 46 64
  2. 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 22 46 64
  3. 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 22 46 64
  4. Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. (PMID: 19522081) Orrico A. … Sorrentino V. (Clin. Genet. 2009) 3 22 46 64
  5. Association study between GABA receptor genes and anxiety spectrum disorders. (PMID: 19842164) Pham X. … Hettema J.M. (Depress Anxiety 2009) 3 22 46 64

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