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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]
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 Nicotine addiction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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.
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.
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 | SIN3A REST EHMT2 MIER2 SP1 GATA2 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 | CTCF SIN3A TRIM22 SMC3 RAD21 ZNF24 PKNOX1 IKZF1 LARP7 | GABRG2 piR-60146-154 HSALNG0046290 | |
GH05J162096 | Enhancer | 0.3 | Ensembl | 11.3 | +97.7 | 97744 | 2 | CTCF NANOG | GABRG2 HSALNG0046287 HSALNG0046286 |
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 |
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 | -- |
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 |
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 |
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 |
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 |
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 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | GABRG2 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | GABRG2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GABRG2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GABRG2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GABRG2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gabrg2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gabrg2 30 |
|
||
Chicken (Gallus gallus) |
Aves | GABRG2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GABRG2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gabrg2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gabrg2 30 31 |
|
OneToOne | |
Dr.27735 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rdl 32 |
|
|
|
CG8916 31 |
|
ManyToMany | |||
Grd 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | C39B10.2 32 |
|
|
|
lgc-37 31 |
|
ManyToMany | |||
glc-4 32 |
|
|
|||
T15B7.16 32 |
|
|
|||
lgc-36 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
833991 | Likely Benign: Epilepsy, childhood absence 2; Familial febrile seizures 8 | 162,068,078(+) |
A/G NM_198904.4(GABRG2):c.79A>G (p.Ile27Val) |
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
835151 | Uncertain Significance: Epilepsy, childhood absence 2; Familial febrile seizures 8 | 162,153,323(+) |
C/G NM_198904.4(GABRG2):c.1383C>G (p.Phe461Leu) |
MISSENSE_VARIANT,THREE_PRIME_UTR | |
835605 | Uncertain Significance: Epilepsy, childhood absence 2; Familial febrile seizures 8 | 162,068,048(+) |
C/G NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala) |
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
836724 | Uncertain Significance: Epilepsy, childhood absence 2; Familial febrile seizures 8 | 162,149,135(+) |
C/G NM_198904.4(GABRG2):c.950C>G (p.Thr317Ser) |
MISSENSE_VARIANT,INTRON | |
838796 | Uncertain Significance: Epilepsy, childhood absence 2; Familial febrile seizures 8 | 162,104,031(+) |
G/C NM_198904.4(GABRG2):c.769+5G>C |
INTRON |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
febrile seizures, familial, 8 |
|
|
developmental and epileptic encephalopathy 74 |
|
|
benign epilepsy with centrotemporal spikes |
|
|
generalized epilepsy with febrile seizures plus |
|
|
childhood absence epilepsy |
|