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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GABRG2 Gene

protein-coding GIFtS: 67
GCID: GC05P161494

gamma-aminobutyric acid (GABA) A receptor, gamma 2

Explore 32 diseases affiliated with
GABRG2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2¹ ²		GEFSP3² ⁵
GABA(A) Receptor Subunit Gamma-2² ³		GABA(A) Receptor, Gamma 2²
CAE2² ⁵		Gamma-Aminobutyric Acid Receptor Subunit Gamma-2²
ECA2² ⁵

External Ids:	HGNC: 4087¹	Entrez Gene: 2566²	Ensembl: ENSG00000113327⁷	OMIM: 137164⁵	UniProtKB: P18507³

Export aliases for GABRG2 gene to outside databases

Previous GC identifers: GC05P161612 GC05P162002 GC05P161430 GC05P161475 GC05P161427 GC05P156587

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GABRG2:

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)

UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507

Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding

to the GABA/benzodiazepine receptor and opening an integral chloride channel

summary for GABRG2:

GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating

the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting

of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).

The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with

a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites

for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRG2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_023133.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GABRG2 gene promoter:
TBP FOXO4 NRSF form 1 Lmo2 AP-4 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GABRG2 promoter sequence

Search SABiosciences Chromatin IP Primers for GABRG2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRG2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q34 Ensembl cytogenetic band: 5q34 HGNC cytogenetic band: 5q34

GABRG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRG2 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P161494: view genomic region (about GC identifiers)

Start:	161,494,546 bp from pter	End:	161,582,545 bp from pter
Size:	88,000 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507 (See protein sequence)

Recommended Name: Gamma-aminobutyric acid receptor subunit gamma-2 precursor

Size: 467 amino acids; 54162 Da

Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

Interacts with GABARAP

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

Multi-pass membrane protein

Miscellaneous: This subunit carries the benzodiazepine binding site

Secondary accessions: Q6GRL6 Q6PCC3 Q9UDB3 Q9UN15

Alternative splicing: 2 isoforms: P18507-1 P18507-2

Explore the universe of human proteins at neXtProt for GABRG2: NX_P18507

Post-translational modifications:

Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P18507

GABRG2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000807.2 NP_944493.2 NP_944494.1

ENSEMBL proteins:

ENSP00000349000 ENSP00000410732 ENSP00000354651 ENSP00000430732 ENSP00000430124

ENSP00000430182 ENSP00000377510

Reactome Protein details: P18507
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Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	2538761
GO:0016021	integral to membrane	--	--
GO:0030054	cell junction	IEA	--

GABRG2 for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GABRG2 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR005437 GABBAg_rcpt

IPR005439 GABBAg2_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006028 GABAA_rcpt

IPR006201 Neur_channel

Graphical View of Domain Structure for InterPro Entry P18507

ProtoNet protein and cluster: P18507

4 Blocks protein families:

IPB005437 Gamma-aminobutyric-acid A receptor gamma subunit signature

IPB005439 Gamma-aminobutyric-acid A receptor gamma 2 subunit signature

IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507

Similarity: 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507

Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding

to the GABA/benzodiazepine receptor and opening an integral chloride channel

Genatlas biochemistry entry for GABRG2:

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

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRG2

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004890	GABA-A receptor activity	IEA	--
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--
GO:0005515	protein binding	IPI	9892355
GO:0008503	benzodiazepine receptor activity	TAS	2538761

GABRG2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for GABRG2: Gabrg2^tm1Geh Gabrg2^tm2.1Geh Gabrg2^tm1Lusc
     6 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Gabrg2):

behavior/neurological	homeostasis/metabolism	mortality/aging	nervous system	normal
reproductive system

GABRG2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

GABA A receptor activation

	GABA A receptor activation	1.00			Synaptic Neurotransmission: GABAergic Inhibition	0.45
	Ligand-gated ion channel transport	0.48			GABA signaling in brain	0.26

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Ion channel transport

Ion channel transport

1.00

Benzodiazepine Pathway, Pharmacodynamics

Benzodiazepine Pathway, Pharmacodynamics

1.00

Akt Signaling

Akt Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GABRG2

GABA signaling in brain

1 R&D Systems Pathway for GABRG2

Synaptic Neurotransmission: GABAergic Inhibition

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRG2

	Sperm Motility
	Akt Signaling

1 Tocris Bioscience Pathway for GABRG2

Akt Pathway

5/8 Reactome Pathways for GABRG2 (see all 8)

	GABA A receptor activation
	Ligand-gated ion channel transport
	Transmission across Chemical Synapses
	Ion channel transport
	Neuronal System

1 PharmGKB Pathway for GABRG2

Benzodiazepine Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for GABRG2):

Neuroactive ligand-receptor interaction

GABRG2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GABRG2

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/17 Interacting proteins for GABRG2 (P18507³ ENSP00000410732⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DRD5	P21918³, ENSP00000306129⁴	I2D: score=1 STRING: ENSP00000306129
PPP3CA	Q08209³, ENSP00000378323⁴	I2D: score=1 STRING: ENSP00000378323
GABARAP	O95166³, ENSP00000306866⁴	I2D: score=4 STRING: ENSP00000306866
PIK3R1	P27986³	I2D: score=1
GABRA1	ENSP00000023897⁴	STRING: ENSP00000023897

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	2538761
GO:0006821	chloride transport	--	--
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	--
GO:0007268	synaptic transmission	TAS	--
GO:0009791	post-embryonic development	--	--

GABRG2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GABRG2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GABRG2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Muscimol	Potent GABAA agonist	[2763-96-4]
(+)-Bicuculline	Potent GABAA antagonist	[485-49-4]
Indiplon	Subtype-selective GABAA receptor positive allosteric modulator	[325715-02-4]
L-655,708	Selective for alpha5-containing GABAA receptors	[130477-52-0]
SR 95531 hydrobromide	Selective, competitive GABAA receptor antagonist	[104104-50-9]

2 HMDB Compounds for GABRG2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--
Gamma-Aminobutyric acid	3-Carboxypropylamine (see all 27)	56-12-2	--

10/23 DrugBank Compounds for GABRG2 (see all 23) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Clotiazepam	--	33671-46-4	target	potentiator	18604239 10592235 18855614
Lorazepam	(+/-)-Lorazepam (see all 3)	846-49-1	target	potentiator	20138190 18384456 11752090
Adinazolam	--	37115-32-5	target	potentiator	6320036 6148400
Chlordiazepoxide	--	58-25-3	target	potentiator	18384456 11752090
Clobazam	--	22316-47-8	target	potentiator	18384456 11752090
Clonazepam	Chlonazepam (see all 2)	1622-61-3	target	potentiator	18384456 11752090
Clorazepate	--	23887-31-2	target	potentiator	18384456 11752090
Diazepam	--	439-14-5	target	potentiator	18384456 11752090
Estazolam	--	29975-16-4	target	potentiator	639854 2889803
Flurazepam	--	17617-23-1	target	potentiator	18384456 11752090

6 Novoseek chemical compound relationships for GABRG2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gaba	71.1	13	7806498 (1), 18566737 (1), 18458705 (1), 15772696 (1) (see all 12)
sodium	47.4	10	18566737 (1), 18625863 (1), 19201561 (1), 18458705 (1) (see all 9)
benzodiazepine	29.5	1	7806498 (1)
methamphetamine	27.4	7	15772696 (4)
potassium	5.29	3	16038283 (1), 11579435 (1)
chloride	4.52	1	16038283 (1)

Search CenterWatch for drugs/clinical trials and news about GABRG2 / GBRG2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GABRG2 gene (3 alternative transcripts):

NM_000816.3 NM_198903.2 NM_198904.2

Unigene Cluster for GABRG2:

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

Hs.7195 [show with all ESTs]

Unigene Representative Sequence: NM_198903

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000356592(uc010jjc.3 uc003lyy.4 uc003lyz.4 uc011dej.2)

ENST00000414552 ENST00000361925 ENST00000522990 ENST00000523372 ENST00000522053

ENST00000393933

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Additional cDNA sequence:

AK123394.1 AK299640.1 AK315200.1 BC036030.1 BC052926.1 BC059389.1 BC069348.1 BC074795.2

X15376.1

7 DOTS entries:

DT.312422 DT.40114896 DT.101984222 DT.101959107 DT.402980 DT.95106962 DT.120879538

24/72 AceView cDNA sequences (see all 72):

AW949419 BU736179 AA365957 BF221573 BM666264 BM718397 BM724819 BX280206

BQ716996 AV725717 T09226 BC069348 CD108432 BC074795 AA318955 BM698428

NM_198904 NM_000816 BX642049 AK123394 NM_198903 AA063111 CK002979 AA716189

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for GABRG2 About this scheme

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

ECgene alternative splicing isoforms for GABRG2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GABRG2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGACTTTTA

About this image

GABRG2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Endothelial Cells

Blood Brain Barrier, Endothelium

Eye

Inner Nuclear Layer

Mature Rod Bipolar Cells

Bipolar, Retina

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Neural Tube

Neural Tube

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GABRG2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GABRG2

SOURCE GeneReport for Unigene cluster: Hs.7195

SABiosciences Expression via Pathway-Focused PCR Arrays including GABRG2:

Neurotransmitter Receptors in human mouse rat

GABA & Glutamate in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for GABRG2 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GABRG2¹	gamma-aminobutyric acid (GABA) A receptor, gamma 2	80.94(n) 93.04(a)		396289 NM_205345.2 NP_990676.1
lizard (Anolis carolinensis)	Reptilia	GABRG2⁶	--	90(a)	1 ↔ 1	1(107026471-107073096)
zebrafish (Danio rerio)	Actinopterygii	Dr.27735²	Transcribed sequence with weak similarity to protein more	72.1(n)		57071230
fruit fly (Drosophila melanogaster)	Insecta	Grd³	glycine-gated ion channel	43(a) (best of 2)		75A4 --
worm (Caenorhabditis elegans)	Secernentea	C39B10.2³	gamma-aminobutyric-acid receptor	34(a) (best of 3)		X(10489543-10492552) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GABRG2 gene

GABRE² GABRA2² GABRA6² GABRA4² GABRG1² GABRG3² GABRA5² GABRA3²

GABRA1²

18/25 SIMAP similar genes for GABRG2 using alignment to 6 protein entries: GBRG2_HUMAN (see all proteins) (see all similar genes):

GABRG3 GABRG1 NCKAP1L GABRE GABRA5 GABRA2

GABRA3 GALK2 GABRA4 GABRA6 GABRA1 GABRP

GLRA4 GABRR2 GABRD GABRQ GABRB1 GLRA2

GABRG2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs71612911^1,2	C	--	156585326(+)	`CACATA/C/TTTAGC`	3	--	us2k¹		1		NA	2
rs74343174^1,2		--	156585644(+)	`CGGTGA/CAGCAA`	3	--	us2k¹		0	--	--	--	--
rs113824035^1,2		--	156586227(+)	`TAAAGA/C/GGGGTA`	3	--	us2k¹		2		CSA NA	122
rs115357359^1,2	C,F,	--	156586300(+)	`CATCCA/GAACTA`	3	--	us2k¹		1		WA	118
rs72821314^1,2	C,	--	156586301(+)	`ATCCAC/AACTAA`	3	--	us2k¹		1		NA	2
rs3219203^1,2	C,F,H,	--	156587314(+)	`ATTCCC/TTAATC`	3	--	ut5¹ ese³		21		NA EA NS WA CSA	2550
rs61750979^1,2	C	--	156587508(+)	`AGTCTA/GCTCGA`	6	Y C	mis¹		1		NS	68
rs80065996^1,2		--	156587764(+)	`AATGTA/GTTCAT`	3	--	int¹		0	--	--	--	--
rs112580273^1,2	C,F,	--	156589394(+)	`CTAGAG/CAAGAC`	3	--	int¹		2		WA CSA	4
rs73321082^1,2	C,	--	156590212(+)	`ACATAG/CCTTGT`	3	--	int¹		2		WA	120

HapMap Linkage Disequilibrium report for GABRG2 (161494546 - 161582545 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GABRG2
1 Indel: 64353
Human Gene Mutation Database (HGMD): GABRG2

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GABRG2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GABRG2 for disorders           About GeneDecksing

OMIM gene information: 137164
OMIM disorders: 604233  607681  611277  607208
UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507

Defects in GABRG2 are the cause of childhood absence epilepsy type 2 (ECA2) [MIM:607681]. ECA2 is a subtype of

idiopathic generalized epilepsy (IGE) 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. During adolescence, tonic-clonic and myoclonic

seizures develop. Some individuals manifest ECA2 occurring in combination with febrile convulsions

Defects in GABRG2 are the cause of familial febrile convulsions type 8 (FEB8) [MIM:611277]. A febrile

convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of

age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic

cause. Febrile convulsions affect 5-12% of infants and children up to 6 years of age. There is epidemiological

evidence that febrile seizures are associated with subsequent afebrile and unprovoked seizures in 2% to 7% of patients

Defects in GABRG2 are the cause of generalized epilepsy with febrile seizures plus type 3 (GEFS+3)

[MIM:611277]. Generalized epilepsy with febrile seizures-plus refers to 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. GEFS+ is a disease combining febrile seizures,

generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree

of severity

Defects in GABRG2 are a cause of severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]; also called Dravet

syndrome. SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are

initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types,

including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed

around the second year of life. SMEI is considered to be the most severe phenotype within the spectrum of generalized

epilepsies with febrile seizures-plus

20/32 diseases for GABRG2 (see all 32): About MalaCards

febrile seizures epilepsy, generalized, with febrile seizures plus, type 3 febrilel, convulsions, familial, 8 seizures

severe myoclonic epilepsy of infancy (smei) epilepsy, childhood absence, susceptibility to, 2 generalized epilepsy with febrile seizures plus childhood absence epilepsy

absence epilepsy obsessive-compulsive disorder generalized epilepsy dravet syndrome

epilepsies, partial idiopathic generalized epilepsy convulsions febrile convulsions

heroin dependence alcoholic liver cirrhosis liver cirrhosis hyperekplexia

4 diseases from the University of Copenhagen DISEASES database for GABRG2:

Idiopathic generalized epilepsy Dravet Syndrome Juvenile absence epilepsy Focal epilepsy

10/13 Novoseek disease relationships for GABRG2 gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epilepsy generalized	92.7	17	19065515 (2), 14738422 (2), 20308251 (1), 12759178 (1) (see all 13)
seizures febrile	91.7	27	12759178 (2), 19065515 (2), 16924025 (2), 14738422 (2) (see all 19)
dravet syndrome	87.8	3	20308251 (1), 12773292 (1), 19783390 (1)
childhood absence epilepsy	87.2	8	20308251 (1), 12759178 (1), 12672902 (1), 16924025 (1) (see all 6)
epilepsies myoclonic	81.9	4	20308251 (1), 12694927 (1), 17008177 (1)
myoclonic epilepsy juvenile	70.6	5	20308251 (1), 17008177 (1), 16302874 (1), 8739126 (1)
familial benign neonatal convulsions	69.7	1	11579435 (1)
epilepsy, idiopathic generalized	68.8	1	17162195 (1)
epilepsy	66.8	15	16806831 (3), 15955415 (1), 18175077 (1), 20308251 (1) (see all 11)
epilepsy frontal lobe	65.4	3	17008177 (1), 11579435 (1)

Genetic Association Database (GAD): GABRG2
Human Genome Epidemiology (HuGE) Navigator: GABRG2 (39 documents)

Export disorders for GABRG2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GABRG2 gene, integrated from 9 sources (see all 150):
(articles sorted by number of sources associating them with GABRG2)

Utopia: connect your pdf to the dynamic
world of online information

Haplotype association between GABAA receptor gamma2 subunit gene (GABRG2) and methamphetamine use disorder. (PubMed id 15772696)^{1, 4, 9} Nishiyama T....Ozaki N. (2005)
Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. (PubMed id 15955415)^{1, 4, 9} Ito M....Ohtsuka Y. (2005)
Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures. (PubMed id 12672902)^{1, 4, 9} Chou I.C....Tsai C.H. (2003)
Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients. (PubMed id 12759178)^{1, 4, 9} Nakayama J....Arinami T. (2003)
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (PubMed id 12694927)^{1, 4, 9} Madia F....Zara F. (2003)
Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. (PubMed id 11328646)^{1, 2, 9} Jiang S.... Yang H. (2000)
Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man. (PubMed id 11140951)^{1, 4, 9} Winterer G....Sander T. (2000)
Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PubMed id 16172613)^{1, 4, 9} Petryshen T.L....Sklar P. (2005)
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. (PubMed id 11326274)^{1, 2, 9} Baulac S....LeGuern E. (2001)
Mutational analysis of GABRG2 in a Japanese cohort wi th childhood epilepsies. (PubMed id 20485450)^{1, 2} Shi X....Hirose S. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2566	HGNC: 4087	AceView: GABRG2	Ensembl:ENSG00000113327	euGenes: HUgn2566
ECgene: GABRG2	Kegg: 2566	H-InvDB: GABRG2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GABRG2	Pharmacogenomics, SNPs, Pathways
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt056.shtml

Intellectual Property for GABRG2 gene
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Patent Information for GABRG2 gene:
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GABRG2 Gene

gamma-aminobutyric acid (GABA) A receptor, gamma 2

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GABRG2 Gene

gamma-aminobutyric acid (GABA) A receptor, gamma 2

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