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 epi... See more...

Aliases for GABRG2 Gene

Aliases for GABRG2 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Gamma-2 3 4
  • GABA(A) Receptor Subunit Gamma-2 3 4
  • GABA(A) Receptor, Gamma 2 2 3
  • Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit 3
  • EIEE74 3
  • GEFSP3 3
  • GABRG2 5
  • DEE74 3
  • CAE2 3
  • ECA2 3
  • FEB8 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 Subunit Gamma2) is a Protein Coding gene. Diseases associated with GABRG2 include Febrile Seizures, Familial, 8 and Developmental And Epileptic Encephalopathy 74. 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 GABRG1.

UniProtKB/Swiss-Prot Summary for GABRG2 Gene

  • Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:2538761, PubMed:29950725). 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:23909897, PubMed:25489750, PubMed:27864268). 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 alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). The alpha2/beta2/gamma2 receptor exhibits synatogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).

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 , Rfam classification and piRNA Summary for GABRG2 Gene

Genomics for GABRG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRG2 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
GH05J162067 Promoter 1 EPDnew Ensembl 250.2 +68.1 68144 1.2 REST SIN3A EHMT2 MIER2 GATA2 SP1 ZNF143 POLR2A HSALNG0046286 GABRG2 HSALNG0046287
GH05J162001 Promoter 0.3 EPDnew 250.7 +1.2 1208 0.1 GABRG2 LINC01202 HSALNG0046284
GH05J162068 Promoter 0.3 EPDnew 250.2 +67.4 67389 0.1 HSALNG0046286 GABRG2 piR-50570
GH05J162209 Enhancer 0.5 Ensembl 10 +209.2 209244 0.2 SIN3A TRIM22 CTCF RAD21 SMC3 PKNOX1 ZNF24 IKZF1 LARP7 GABRG2 piR-60146-154 HSALNG0046290
GH05J162096 Enhancer 0.3 Ensembl 11.3 +97.7 97744 2 CTCF NANOG GABRG2 HSALNG0046287 HSALNG0046286
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRG2

Top Transcription factor binding sites by QIAGEN in the GABRG2 gene promoter:
  • AP-4
  • FOXO4
  • Lmo2
  • NRSF form 1
  • NRSF form 2
  • TBP

Genomic Locations for GABRG2 Gene

Latest Assembly
chr5:162,000,057-162,162,977
(GRCh38/hg38)
Size:
162,921 bases
Orientation:
Plus strand

Previous Assembly
chr5:161,494,471-161,582,545
(GRCh37/hg19 by Entrez Gene)
Size:
88,075 bases
Orientation:
Plus strand

chr5:161,494,546-161,582,542
(GRCh37/hg19 by Ensembl)
Size:
87,997 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 (PubMed:2538761, PubMed:29950725). Interacts with GABARAP (PubMed:9892355). Interacts with KIF21B (By similarity). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (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).
    Miscellaneous:
    • This subunit carries the benzodiazepine binding site.

    Three dimensional structures from OCA and Proteopedia for GABRG2 Gene

    Alternative splice isoforms for GABRG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRG2 Gene

Post-translational modifications for GABRG2 Gene

  • Glycosylated.
  • Palmitoylated by ZDHHC3/GODZ; required for the accumulation of GABA(A) receptors at the postsynaptic membrane of inhibitory GABAergic synapses.
  • Glycosylation at Asn52, Asn129, and Asn247
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRG2 Gene

Domains & Families for GABRG2 Gene

Gene Families for GABRG2 Gene

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

Protein Domains for GABRG2 Gene

InterPro:
Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Gamma-aminobutyric-acid A receptor gamma subunit signature
  • Gamma-aminobutyric-acid A receptor gamma 2 subunit signature

Suggested Antigen Peptide Sequences for GABRG2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59748, highly similar to Gamma-aminobutyric-acid receptor gamma-2 subunit (A8MWU7_HUMAN)
  • GABA(A) receptor subunit gamma-2 (GBRG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P18507

UniProtKB/Swiss-Prot:

GBRG2_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. GABRG2 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. GABRG2 sub-subfamily.
genes like me logo Genes that share domains with GABRG2: view

Function for GABRG2 Gene

Molecular function for GABRG2 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:2538761, PubMed:29950725). 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:23909897, PubMed:25489750, PubMed:27864268). 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 alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). The alpha2/beta2/gamma2 receptor exhibits synatogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by benzodiazepines (PubMed:2538761, PubMed:29950725). Activated by pentobarbitol (By similarity). Inhibited by the antagonist bicuculline (PubMed:29950725). Inhibited by zinc ions (PubMed:27864268).
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

Phenotypes From GWAS Catalog for GABRG2 Gene

Gene Ontology (GO) - Molecular Function for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 GABA-A receptor activity IEA,ISS --
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 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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRG2

Clone products for research

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
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GABRG2 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRG2 Gene

Pathways & Interactions for GABRG2 Gene

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

Pathways by source for GABRG2 Gene

1 R&D Systems pathway for GABRG2 Gene
1 Tocris pathway for GABRG2 Gene
2 Qiagen pathways for GABRG2 Gene
  • Akt Signaling
  • Sperm Motility

SIGNOR curated interactions for GABRG2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IBA 21873635
GO:0007214 gamma-aminobutyric acid signaling pathway IEA,IBA 21873635
GO:0007268 chemical synaptic transmission IEA,IBA 21873635
genes like me logo Genes that share ontologies with GABRG2: view

Drugs & Compounds for GABRG2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit, Investigational Pharma Target, Target, positive allosteric modulator, ligand, binder 3
Chlordiazepoxide Approved, Illicit, Investigational Pharma Target, Target, positive allosteric modulator, ligand, agonist 5
Clobazam Approved, Illicit Pharma Target, Target, positive allosteric modulator, ligand, antagonist 26
Clonazepam Approved, Illicit Pharma Target, Target, positive allosteric modulator, ligand, agonist 42
Clorazepate Approved, Illicit Pharma Target, Target, positive allosteric modulator, ligand, agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
Alpha-hydroxyalprazolam
  • a-Hydroxyalprazolam
  • Α-hydroxyalprazolam
  • alpha-Hydroxyalprazolam
37115-43-8

(4) Tocris Compounds for GABRG2 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

(90) 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
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 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
Furosemide GABAA receptors antagonist 54-31-9
Gabapentin GABA enhancer 60142-96-3
Ganaxolone 38398-32-2
GS 39783 39069-52-8
Guvacine hydrochloride 6027-91-4
Hispidulin 1447-88-7
Isoguvacine hydrochloride 68547-97-7
L-655,708 130477-52-0
L-838,417 286456-42-6
Loreclezole hydrochloride 117857-45-1
MK 0343 233275-76-8
MRK 016 783331-24-8
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
Pentylenetetrazole 54-95-5
Phaclofen 114012-12-3
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

Drug products for research

Transcripts for GABRG2 Gene

mRNA/cDNA for GABRG2 Gene

15 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
29 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 GABRG2

Clone products for research

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

Expression for GABRG2 Gene

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



Protein tissue co-expression partners for GABRG2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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 30
  • 99 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia GABRG2 29
  • 97.82 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GABRG2 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRG2 29 30
  • 93.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRG2 29 30
  • 93.26 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabrg2 29 16 30
  • 91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabrg2 29
  • 90.27 (n)
Chicken
(Gallus gallus)
Aves GABRG2 29 30
  • 80.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRG2 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabrg2 29
  • 77.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabrg2 29 30
  • 72.53 (n)
OneToOne
Dr.27735 29
Fruit Fly
(Drosophila melanogaster)
Insecta Rdl 31
  • 37 (a)
CG8916 30
  • 26 (a)
ManyToMany
Grd 30 31
  • 26 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C39B10.2 31
  • 34 (a)
lgc-37 30
  • 33 (a)
ManyToMany
glc-4 31
  • 33 (a)
T15B7.16 31
  • 29 (a)
lgc-36 30
  • 24 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 26 (a)
ManyToMany
Species where no ortholog for GABRG2 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 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)
Aminode:
Evolutionary constrained regions (ECRs) for GABRG2: view image
Alliance of Genome Resources:
Additional Orthologs for GABRG2

Paralogs for GABRG2 Gene

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

  • GBRG2_HUMAN
  • A8MWU7_HUMAN
  • E5RGG2_HUMAN
  • E5RGJ0_HUMAN
  • E5RIG3_HUMAN
genes like me logo Genes that share paralogs with GABRG2: view

Variants for GABRG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRG2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1007702 Uncertain Significance: Epilepsy, childhood absence 2; Familial febrile seizures 8 162,153,148(+) C/T
NM_198904.4(GABRG2):c.1208C>T (p.Thr403Ile)
MISSENSE_VARIANT,THREE_PRIME_UTR
1010506 Uncertain Significance: Epilepsy, childhood absence 2; Familial febrile seizures 8 162,142,266(+) G/C
NM_198904.4(GABRG2):c.872G>C (p.Trp291Ser)
MISSENSE
1012751 Likely Benign: not provided 162,149,157(+) A/G
NM_198904.4(GABRG2):c.972A>G (p.Lys324=)
SYNONYMOUS_VARIANT,INTRON
1017056 Uncertain Significance: Epilepsy, childhood absence 2; Familial febrile seizures 8 162,142,253(+) G/A
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile)
MISSENSE
1017766 Uncertain Significance: Epilepsy, childhood absence 2; Familial febrile seizures 8 162,149,150(+) C/A
NM_198904.4(GABRG2):c.965C>A (p.Ala322Asp)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GABRG2 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 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)

Additional Variant Information for GABRG2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for GABRG2 Gene

MalaCards: The human disease database

(59) MalaCards diseases for GABRG2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

GBRG2_HUMAN
  • Epileptic encephalopathy, early infantile, 74 (EIEE74) [MIM:618396]: 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. EIEE74 is an autosomal dominant form with onset in the first year of life. {ECO:0000269 PubMed:27864268}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • 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 variants affecting the gene represented in this entry.
  • Febrile seizures, familial, 8 (FEB8) [MIM:607681]: 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 variants affecting the gene represented in this entry.
  • Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:607681]: 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, ECO:0000269 PubMed:23708187}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GABRG2

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 GABRG2: view

No data available for Genatlas for GABRG2 Gene

Publications for GABRG2 Gene

  1. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. (PMID: 11326274) Baulac S … LeGuern E (Nature genetics 2001) 3 4 22 72
  2. De novo GABRG2 mutations associated with epileptic encephalopathies. (PMID: 27864268) Shen D … Macdonald RL (Brain : a journal of neurology 2017) 3 4 72
  3. Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. (PMID: 20485450) Shi X … Hirose S (Journal of human genetics 2010) 3 4 40
  4. Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. (PMID: 19522081) Orrico A … Sorrentino V (Clinical genetics 2009) 3 22 40
  5. Polymorphism in cytochrome P450 2E1 and interaction with other genetic risk factors and susceptibility to alcoholic liver cirrhosis. (PMID: 19428381) Khan AJ … Parmar D (Mutation research 2009) 3 22 40

Products for GABRG2 Gene

Sources for GABRG2 Gene