Aliases for GABRG2 Gene
Aliases for GABRG2 Gene
External Ids for GABRG2 Gene
- HGNC: 4087
- Entrez Gene: 2566
- Ensembl: ENSG00000113327
- OMIM: 137164
- UniProtKB: P18507
Previous GeneCards Identifiers for GABRG2 Gene
- GC05P161612
- GC05P162002
- GC05P161430
- GC05P161475
- GC05P161427
- GC05P156587
- GC05P161494
- GC05P162067
Summaries 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 Generalized Epilepsy With Febrile Seizures Plus, Type 3. Among its related pathways are Transmission across Chemical Synapses and GABAergic synapse. 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 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.
-
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.
Additional gene information for GABRG2 Gene
- Monarch Initiative
- Search for GABRG2 at DataMed
- Search for GABRG2 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRG2 Gene
Genomics for GABRG2 Gene
GeneHancer (GH) Regulatory Elements 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH05I162067 | Promoter | 0.7 | EPDnew | 550.2 | +67.7 | 67697 | 0.1 | MXI1 POLR2A EZH2 | GABRG2 GC05P162022 PIR44569 GC05P162186 GC05M162004 | |
GH05I162068 | Promoter | 0.6 | EPDnew | 550.2 | +67.4 | 67389 | 0.1 | MXI1 | GABRG2 PIR44569 GC05P162022 GC05P162186 GC05M162004 | |
GH05I161697 | Enhancer | 0.4 | FANTOM5 | 1.5 | -302.9 | -302867 | 0.2 | SIN3A | GABRA6 GABRB2 GABRA1 GABRG2 ENSG00000253403 GLRXP3 | |
GH05I162127 | Enhancer | 0.5 | ENCODE | 0.1 | +128.2 | 128211 | 0.9 | USF1 POLR2A MAX SIN3A CTBP2 | GC05P162186 PIR44569 GC05P162022 GABRG2 GC05M162004 |
- Top Transcription factor binding sites by QIAGEN in the GABRG2 gene promoter:
Regulatory Element Products
Genomic Locations for GABRG2 Gene
- chr5:162,000,057-162,162,977
- (GRCh38/hg38)
- Size:
- 162,921 bases
- Orientation:
- Plus strand
- chr5:161,494,546-161,582,545
- (GRCh37/hg19)
Genomic View for GABRG2 Gene
- Cytogenetic band:
-
- 5q34 by Ensembl
- 5q34 by Entrez Gene
- 5q34 by HGNC


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
- 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.
Protein Expression for GABRG2 Gene
Post-translational modifications for GABRG2 Gene
- Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability.
- Glycosylation at posLast=5252, isoforms=2, 3129, and posLast=247247
Other Protein References for GABRG2 Gene
- ENSEMBL proteins:
-
- ENSP00000349000
- ENSP00000354651
- ENSP00000430124
- ENSP00000430732
- ENSP00000491240
- ENSP00000491245
- ENSP00000491557
- ENSP00000491582
- ENSP00000491621
- ENSP00000491763
- ENSP00000491909
- ENSP00000491958
- ENSP00000492096
- ENSP00000492125
- ENSP00000492293
- ENSP00000492329
- ENSP00000492545
- ENSP00000492581
- ENSP00000492659
- ENSP00000492869
- ENSP00000493461
- ENSP00000410732
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for GABRG2 (GABA-A R gamma 2)
-
Custom Antibody ServicesOriGene Antibodies for GABRG2
- Novus Biologicals Antibodies for GABRG2
-
Abcam antibodies for GABRG2
- Invitrogen Antibodies for GABRG2
- GeneTex GABRG2 antibody for GABRG2
Protein Products
-
OriGene Purified Proteins for GABRG2
- Search Origene for MassSpec and Protein Over-expression Lysates for GABRG2
- Origene Custom Protein Services for GABRG2
- Novus Biologicals lysates for GABRG2
- antibodies-online: Search results for 4 available GABRG2 Proteins ranked by validation data
- Compare Top GABRG2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for GABRG2
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for GABRG2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P18507UniProtKB/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.
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.
Phenotypes From GWAS Catalog for GABRG2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004890 | GABA-A receptor activity | ISS | -- |
GO:0005216 | ion channel activity | IEA | -- |
GO:0005230 | extracellular ligand-gated ion channel activity | IEA | -- |
GO:0005254 | chloride channel activity | ISS | -- |
GO:0005515 | protein binding | IPI | 9892355 |
Phenotypes for GABRG2 Gene
- MGI mutant phenotypes for GABRG2:
- inferred from 11 alleles
- GenomeRNAi human phenotypes for GABRG2:
Animal Models for GABRG2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GABRG2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for GABRG2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GABRG2 gene
- Search ViGene Biosciences for GABRG2
CRISPR Products
-
OriGene CRISPR knockouts for GABRG2
- genomics-online: gRNA clones - Search results for 107 available GABRG2 gene related products
- Overview of 107 available GABRG2 gene related products
- Applied Biological Materials CRISPR for GABRG2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GABRG2
- GenScript: Design CRISPR guide RNA sequences for GABRG2
miRNA for GABRG2 Gene
- miRTarBase miRNAs that target GABRG2
-
- hsa-mir-7159-3p (MIRT619542)
- hsa-mir-6873-3p (MIRT619543)
- hsa-mir-627-3p (MIRT619544)
- hsa-mir-4778-3p (MIRT619545)
- hsa-mir-1236-3p (MIRT619546)
- hsa-mir-6515-3p (MIRT619547)
- hsa-mir-6817-3p (MIRT619548)
- hsa-mir-7110-3p (MIRT619549)
- hsa-mir-26a-2-3p (MIRT619550)
- hsa-mir-26a-1-3p (MIRT619551)
- hsa-mir-6731-3p (MIRT619552)
- hsa-mir-6777-3p (MIRT619553)
- hsa-mir-4639-3p (MIRT619554)
- hsa-mir-6749-3p (MIRT619555)
- hsa-mir-6792-3p (MIRT619556)
- hsa-mir-4691-5p (MIRT619557)
- hsa-mir-4469 (MIRT619558)
- hsa-mir-136-5p (MIRT619559)
- hsa-mir-4667-3p (MIRT619560)
- hsa-mir-1470 (MIRT619561)
- hsa-mir-500a-5p (MIRT619562)
- hsa-mir-374b-5p (MIRT628199)
- hsa-mir-374a-5p (MIRT628200)
miRNA Products
- Search ViGene Biosciences for GABRG2
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for GABRG2
- Browse OriGene Inhibitory RNA Products For GABRG2
- genomics-online: shRNA clones - Search results for 107 available GABRG2 gene related products
- Overview of 107 available GABRG2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for GABRG2 gene
Clone Products
-
OriGene ORF clones in human for GABRG2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for GABRG2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GABRG2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for GABRG2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for GABRG2 (GABA-A R gamma 2)
Cell Line Products
-
Horizon Cell Lines for GABRG2
-
ViGene Biosciences adenoviral particle packaged cDNA for GABRG2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for GABRG2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GABRG2 gene
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS,IEA | -- |
GO:0005887 | integral component of plasma membrane | ISS,IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRG2 Gene
Pathways & Interactions for GABRG2 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | GABAergic synapse | ||
2 | Transmission across Chemical Synapses |
.62
|
|
3 | Ligand-gated ion channel transport | ||
4 | Peptide ligand-binding receptors | ||
5 | Nicotine addiction |
Pathways by source for GABRG2 Gene
8 Reactome pathways for GABRG2 Gene
1 PharmGKB pathway for GABRG2 Gene
5 KEGG pathways for GABRG2 Gene
1 R&D Systems pathway for GABRG2 Gene
1 Tocris pathway for GABRG2 Gene
2 Qiagen pathways for GABRG2 Gene
Interacting Proteins for GABRG2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006810 | transport | IEA,TAS | 2538761 |
GO:0006811 | ion transport | IEA | -- |
GO:0006821 | chloride transport | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007214 | gamma-aminobutyric acid signaling pathway | IEA | -- |
No data available for SIGNOR curated interactions for GABRG2 Gene
Drugs & Compounds for GABRG2 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Lorazepam | Approved | Pharma | Target, positive allosteric modulator, agonist | 130 | ||
Adinazolam | Approved | Pharma | Target, potentiator, agonist | 0 | ||
Bromazepam | Approved, Illicit, Investigational | Pharma | Target, potentiator, binder | 2 | ||
Chlordiazepoxide | Approved, Illicit, Investigational | Pharma | Target, positive allosteric modulator, agonist | 5 | ||
Cinolazepam | Approved | Pharma | Target, potentiator, binder | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Alpha-hydroxyalprazolam |
|
37115-43-8 | ||||
Chloride ion |
|
16887-00-6 |
|
(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 |
(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 |
Transcripts for GABRG2 Gene
mRNA/cDNA for GABRG2 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (72) Selected AceView cDNA sequences:
- (29) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for GABRG2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GABRG2
- genomics-online: gRNA clones - Search results for 107 available GABRG2 gene related products
- Overview of 107 available GABRG2 gene related products
- Applied Biological Materials CRISPR for GABRG2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GABRG2
- GenScript: Design CRISPR guide RNA sequences for GABRG2
miRNA Products
- Search ViGene Biosciences for GABRG2
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for GABRG2
- Browse OriGene Inhibitory RNA Products For GABRG2
- genomics-online: shRNA clones - Search results for 107 available GABRG2 gene related products
- Overview of 107 available GABRG2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for GABRG2 gene
Clone Products
-
OriGene ORF clones in human for GABRG2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for GABRG2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GABRG2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for GABRG2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for GABRG2 (GABA-A R gamma 2)
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||
SP5: | - |
Expression for GABRG2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Eye (Sensory Organs)
- Mature Rod Bipolar Cells Inner Nuclear Layer
- Corneal Stroma
- Neural Tube (Nervous System)
-
Neurons
- Mature Rod Bipolar Cells Inner Nuclear Layer
- NULL (Uncategorized)
-
Spinal Cord (Nervous System)
mRNA differential expression in normal tissues according to GTEx for GABRG2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABRG2 Gene
NURSA nuclear receptor signaling pathways regulating expression of GABRG2 Gene:
GABRG2SOURCE GeneReport for Unigene cluster for GABRG2 Gene:
Hs.7195Evidence on tissue expression from TISSUES for GABRG2 Gene
- Nervous system(5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRG2 Gene
- ectoderm
- mesoderm
- nervous
- skeletal muscle
- brain
- cranial nerve
- eye
- head
- lower limb
- upper limb
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for GABRG2
-
OriGene qPCR primer pairs and template standards for GABRG2
- genomics-online: primer clones - Search results for 107 available GABRG2 gene related products
- Overview of 107 available GABRG2 gene related 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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
oppossum (Monodelphis domestica) |
Mammalia | GABRG2 34 |
|
OneToOne | |
chimpanzee (Pan troglodytes) |
Mammalia | GABRG2 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | GABRG2 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | GABRG2 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | GABRG2 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Gabrg2 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Gabrg2 33 |
|
||
chicken (Gallus gallus) |
Aves | GABRG2 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | GABRG2 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | gabrg2 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | gabrg2 33 34 |
|
||
Dr.27735 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Grd 35 34 |
|
||
Rdl 35 |
|
|
|||
CG8916 34 |
|
ManyToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | C39B10.2 35 |
|
|
|
glc-4 35 |
|
|
|||
lgc-37 34 |
|
ManyToMany | |||
T15B7.16 35 |
|
|
|||
lgc-36 34 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for GABRG2 Gene
Paralogs for GABRG2 Gene
(23) SIMAP similar genes for GABRG2 Gene using alignment to 5 proteins:
Variants for GABRG2 Gene
SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1060501888 | uncertain-significance, Epilepsy, childhood absence 2, Familial febrile seizures 8 | 162,149,246(+) | G/T | coding_sequence_variant, missense_variant | |
rs1060501889 | likely-pathogenic, Epilepsy, childhood absence 2, Familial febrile seizures 8 | 162,149,210(+) | G/ | coding_sequence_variant, frameshift | |
rs1060501890 | uncertain-significance, Epilepsy, childhood absence 2, Familial febrile seizures 8 | 162,149,192(+) | A/G | coding_sequence_variant, missense_variant | |
rs1060501891 | uncertain-significance, Epilepsy, childhood absence 2, Familial febrile seizures 8 | 162,068,070(+) | C/A | coding_sequence_variant, missense_variant | |
rs11135176 | conflicting-interpretations-of-pathogenicity, benign, not specified, Generalized epilepsy with febrile seizures plus, Severe myoclonic epilepsy in infancy, Familial febrile seizures 8 | 162,095,550(+) | C/T | coding_sequence_variant, synonymous_variant |
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 |
Additional Variant Information for GABRG2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRG2 Gene
Disorders for GABRG2 Gene

(23) MalaCards diseases for GABRG2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, childhood absence 2 |
|
|
generalized epilepsy with febrile seizures plus, type 3 |
|
|
generalized epilepsy with febrile seizures plus |
|
|
benign epilepsy with centrotemporal spikes |
|
|
epileptic encephalopathy, early infantile, 6 |
|
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, ECO:0000269 PubMed:23708187}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GABRG2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GABRG2 Gene
Publications for GABRG2 Gene
- Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. (PMID: 20485450) Shi X … Hirose S (Journal of human genetics 2010) 3 4 44 58
- Association study between GABA receptor genes and anxiety spectrum disorders. (PMID: 19842164) Pham X … Hettema JM (Depression and anxiety 2009) 3 22 44 58
- Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? (PMID: 19292758) Sijben AE … Scheffer IE (Epilepsia 2009) 3 22 44 58
- 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 44 58
- 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 44 58
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for GABRG2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for GABRG2
- Cyagen custom Knockout/knockin (KOKI) mouse models for GABRG2
- VectorBuilder custom plasmid, inducible vectors for GABRG2
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 117 available GABRG2 Antibodies ranked by validation data
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- ViGene Biosciences ready-to-package AAV shRNAs for GABRG2 gene
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- genomics-online: cdna clones - Search results for 107 available GABRG2 gene related products
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Sources for GABRG2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew