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GABRG2 Gene

protein-coding GIFtS: 69

GC05P161427

gamma-aminobutyric acid (GABA) A receptor, gamma 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
CAE2 ^², ⁵
ECA2 ^², ⁵
GEFSP3 ^², ⁵

Descriptions
GABA(A) receptor subunit gamma-2 ^³
gamma-aminobutyric acid (GABA) A receptor, gamma 2 ^²
gamma-aminobutyric acid A receptor, gamma 2 ^²

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

Search outside databases for aliases for GABRG2 gene

Previous GC identifers: GC05P161612 GC05P162002 GC05P161430 GC05P161475

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

EntrezGene 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]

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

Gene Wiki entry for GABRG2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the GABRG2 gene

Entrez Gene cytogenetic band: 5q31.1-q33.1 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)

GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P161427: (about GC identifiers)

Start:	161,427,295 bp from pter
End:	161,515,122 bp from pter
Size:	87,828 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000005.8 NT_023133.12

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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 Q9UN15

Post-translational modifications:

Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability

(By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000807.2 NP_944493.2 NP_944494.1

ENSEMBL proteins:

ENSP00000377510 ENSP00000349000 ENSP00000354651

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (GABA A Receptor gamma 2)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0005887	integral to plasma membrane	TAS	2538761
GO:0030054	cell junction	IEA	--
GO:0045202	synapse	IEA	--

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Antibodies for GABRG2:

	Invitrogen Antibodies for GABRG2
	Millipore Mono- and Polyclonal Antibodies for the study of GABRG2
	Sigma-Aldrich Antibodies for GABRG2
	R&D Systems Antibodies for GABRG2 (GABA-A-R gamma 2)
	Antibodies from Abcam (GABA A Receptor gamma 2), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for GABRG2

Assays for GABRG2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 ionic channel (TC 1.A.9) family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GABRG2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GABRG2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_198903

Applied Biosystems Silencer® siRNAs for GABRG2

Sigma-Aldrich siRNA and siRNA Panels for GABRG2

Sigma-Aldrich shRNA Panels and shRNA for GABRG2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for GABRG2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000816
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000816
untagged cDNA clones in CMV expression vector (see all 3): NM_000816

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_198903

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

8 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Gabrg2):

behavior/neurological	homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging
nervous system	normal	reproductive system

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004890	GABA-A receptor activity	IEA	--
GO:0005216	ion channel activity	IEA	--
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--
GO:0005515	protein binding	IPI	9892355

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for GABRG2 (Your Favorite Gene powered by Ingenuity)

GABA Receptor Signaling

GeneDecks GABRG2 for the pathways selected above

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5/42 Interacting proteins for GABRG2 (ENSP00000349000³) via UniProtKB, MINT, and/or STRING (see all 42 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GABARAP	ENSP00000306866³	STRING (score=.994)
SCN1A	ENSP00000303540³	STRING (score=.959)
SCN1B	ENSP00000262631³	STRING (score=.954)
GAD1	ENSP00000350928³	STRING (score=.947)
CLDN10	ENSP00000299339³	STRING (score=.899)

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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	IEA	--
GO:0006821	chloride transport	IEA	--
GO:0007214	gamma-aminobutyric acid signaling pathway	TAS	2538761
GO:0007268	synaptic transmission	IEA	--
GO:0009791	post-embryonic development	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for GABRG2

Sigma-Aldrich Small Molecules for GABRG2:

Mixed Agonist/Antagonist Antagonist Allosteric Modulator Inhibitor

Compounds for GABRG2 available from Tocris Bioscience

Compound	Action	CAS number
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]

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4 Novoseek chemical compound relationships for GABRG2 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
sodium	47.43	10	18458705 (1), 18566737 (1), 18625863 (1), 19201561 (1) (see all 9)
benzodiazepine	31.69	1	7806498 (1)
potassium	8.03	3	16038283 (1), 11579435 (1)
chloride	7.38	1	16038283 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GABRG2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GABRG2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_198903

Sigma-Aldrich siRNA and siRNA Panels for GABRG2

Sigma-Aldrich shRNA Panels and shRNA for GABRG2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000816 NM_198903 NM_198904

REFSEQ mRNAs for GABRG2 gene (3 alternative transcripts):

NM_000816.3 NM_198903.2 NM_198904.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000816 NM_198903 NM_198904

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000816
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000816
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000816

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.402980 DT.101959107 DT.95106962 DT.120879538

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

BF221573 AW949419 BM718397 AA318955 NM_198904 BM724819 BM698428 BC074795

AV725717 NM_000816 AK123394 NM_198903 BU736179 CD108432 T09226 BX280206

BC069348 BX642049 BQ716996 BM666264 AA365957 F12738 CD013896 BC036030

highest scoring ESTs for GABRG2:

H96492 X15376 AA063111 AA318955 AA365957 AA716189 AA723294 AK123394 AV727649 AW090620

Unigene Cluster for GABRG2:

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

Hs.7195 [show with all ESTs]

Unigene Representative Sequence: NM_198903

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for GABRG2

3 Ensembl transcripts including schematic representations:

ENST00000393933 ENST00000356592 ENST00000361925

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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GABRG2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GABRG2

¹ / ² / ³

5 probe-sets matching GABRG2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36762_at²^{, 3}	U95-A	1	1.00	1.00	0.95	1.01	X15376	1.00	1.00	1.00	1
84886_at²^{, 3}	U95-E	1	0.69	1.00	0.97	1.00	H96492	1.00	1.00	1.00	1
206849_at²^{, 3}	U133-A	2	1.00	0.95	--	--	NM_000816	0.60	1.00	0.82	1
1568612_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206849_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

GeneDecks GABRG2 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGGACTTTTA

SOURCE GeneReport for Unigene cluster: Hs.7195
Expression variation in blood from EXPOLDB for GABRG2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GABRG2 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GABRG2¹	--	gamma-aminobutyric acid (GABA) A receptor, gamma 2	93.54(n) 99.37(a)	489141 XM_861944.1 XP_867037.1
cow (Bos taurus)	GABRG2¹	--	gamma-aminobutyric acid (GABA) A receptor, gamma 2	93.4(n) 98.74(a)	282240 NM_174545.1 NP_776970.1
rat (Rattus norvegicus)	Gabrg2¹	--	gamma-aminobutyric acid (GABA) A receptor, gamma 2	90.41(n) 99.36(a)	29709 NM_183327.1 NP_899156.1
mouse (Mus musculus)	Gabrg2^{1, 5}	11 (19.00 cM)⁵	gamma-aminobutyric acid (GABA) A receptor, subunit more⁵ gamma-aminobutyric acid (GABA-A) receptor, subunit more¹	91.14(n)¹ 99.37(a)¹	14406¹ NM_008073.2¹ NP_032099.1¹ AF233775⁵ AF233776⁵ (see all 47)
chicken (Gallus gallus)	GABRG2¹	--	gamma-aminobutyric acid (GABA) A receptor, gamma 2	80.94(n) 93.04(a)	396289 NM_205345.1 NP_990676.1

About this table Species with no ortholog for GABRG2

ENSEMBL Gene Tree for GABRG2

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

GABRE² GABRG1² GABRG3²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/395 NCBI SNPs in GABRG2 are shown (see all 395 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 151)

AB	SNP ID	Valid	Chr 5 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs647625^1,2	A,C,F,H,O	161515355(+)	`ATTTCA/GGTGTG`	1	--	ng3¹		19		EA NA EU WA	1526
	rs424740^1,2	A,C,F,H,O	161513613(+)	`AAAGAA/TTCCTG`	3	--	ut3¹ ese³		12		NA MN EA EU WA	942
	rs401750^1,2	A,C,F,H,O	161515239(+)	`CATGGT/CGGTAC`	1	--	ng3¹		7		EU EA WA NA	560
	rs418210^1,2	A,C,F,H,O	161513561(+)	`ATGGAC/TTGAAG`	3	--	ut3¹ ese³		7		NA EU EA WA	556
	rs3219203^1,2	C,F,H	161427430(+)	`ATTCCC/TTAATC`	3	--	ut5¹ ese³		7		EU EA WA NA	558
	rs11956247^1,2	C,F,H	161514449(+)	`TGAGCC/TAATGA`	3	--	ut3¹ ese³		4		EU EA WA	410
--	rs211035^1,2	A,C	161462149(+)	`GTTCTA/GTTGCC`	3	I/V	mis¹ int¹		0	--	--	--	--
	rs211037^1,2	A,C,F,H,O	161460858(+)	`CACAAC/TTTTCC`	3	N/N	syn¹		21		NA EU EA WA	2416
	rs11135176^1,2	C,F,H	161455134(+)	`GTGAAC/TGCTAT`	3	N/N	syn¹ ese³		7		NA EU EA WA	558
	rs365054^1,2	A,C,F,H,O	161476909(-)	`TTTATT/CGCTTC`	3	--	int¹		16		EA NA EU WA	2602

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HapMap Linkage Disequilibrium images for GABRG2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 137164 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 [MIM:611277]

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:604233]. 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

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
epilepsy generalized	92.06	16	19065515 (2), 14738422 (2), 12759178 (1), 18566737 (1) (see all 12)
seizures febrile	91.08	24	12759178 (2), 19065515 (2), 14738422 (2), 16924025 (2) (see all 17)
childhood absence epilepsy	86.93	7	12759178 (1), 12672902 (1), 16924025 (1), 17008177 (1) (see all 5)
dravet syndrome	84.08	1	12773292 (1)
epilepsies myoclonic	79.44	3	12694927 (1), 17008177 (1)
familial benign neonatal convulsions	70.98	1	11579435 (1)
epilepsy, idiopathic generalized	70.78	1	17162195 (1)
epilepsy frontal lobe	67.18	3	17008177 (1), 11579435 (1)
myoclonic epilepsy juvenile	66.70	4	17008177 (1), 16302874 (1), 8739126 (1)
epilepsy	65.26	12	16806831 (3), 15955415 (1), 18175077 (1), 17008177 (1) (see all 8)

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Human Gene Mutation Database: GABRG2
Genetic Association Database: GABRG2
Human Genome Epidemiology Navigator: GABRG2 (24 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/99 PubMed articles for GABRG2 gene (see all 99 ):

Haplotype association between GABAA receptor gamma2 subunit gene (GABRG2) and methamphetamine use disorder. (PubMed id 15772696)^{1, 3, 6} Nishiyama T....Ozaki N. (2005)
Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. (PubMed id 15955415)^{1, 3, 6} 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, 3, 6} 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, 3, 6} Nakayama J....Arinami T. (2003)
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (PubMed id 12694927)^{1, 3, 6} Madia F....Zara F. (2003)
Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. (PubMed id 11328646)^{1, 3, 4} Jiang S.... Yang H. (2000)
Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man. (PubMed id 11140951)^{1, 3, 6} Winterer G....Sander T. (2000)
Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PubMed id 16172613)^{1, 3, 6} 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, 3, 4} Baulac S....LeGuern E. (2001)
Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. (PubMed id 15542698)^{3, 6} Foley P.F....Dodd P.R. (2004)

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

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
Protein Spotlight	http://www.expasy.org/spotlight/back_issues/sptlt056.shtml

Licensable Technologies for GABRG2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for GABRG2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for GABRG2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for GABRG2		Antibodies for GABRG2
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	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for GABRG2

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GABRG2 Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for GABRG2

Summaries
for GABRG2

Genomic Location
for GABRG2

Proteins
for GABRG2

Protein Domains/
Families
for GABRG2

Gene Function
for GABRG2

Pathways & Interactions
for GABRG2

Drugs & Compounds
for GABRG2

Transcripts
for GABRG2

Expression
for GABRG2

Orthologs
for GABRG2

Paralogs
for GABRG2

SNPs/Variants
for GABRG2

Disorders & Mutations
for GABRG2

Medical News
for GABRG2

Publications
for GABRG2

Search for GABRG2

Genome Databases showing GABRG2

Other Databases showing GABRG2

Specialized Databases showing GABRG2

Licensable Technologies
for GABRG2

Services
for GABRG2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GABRG2 Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor GABRG2

Summariesfor GABRG2

Genomic Locationfor GABRG2

Proteinsfor GABRG2

Protein Domains/Familiesfor GABRG2

Gene Functionfor GABRG2

Pathways & Interactionsfor GABRG2

Drugs & Compoundsfor GABRG2

Transcriptsfor GABRG2

Expression for GABRG2

Orthologsfor GABRG2

Paralogsfor GABRG2

SNPs/Variantsfor GABRG2

Disorders & Mutationsfor GABRG2

Medical Newsfor GABRG2

Publicationsfor GABRG2

Search for GABRG2

Genome Databases showing GABRG2

Other Databases showing GABRG2

Specialized Databases showing GABRG2

Licensable Technologiesfor GABRG2

Servicesfor GABRG2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for GABRG2

Summaries
for GABRG2

Genomic Location
for GABRG2

Proteins
for GABRG2

Protein Domains/
Families
for GABRG2

Gene Function
for GABRG2

Pathways & Interactions
for GABRG2

Drugs & Compounds
for GABRG2

Transcripts
for GABRG2

Expression
for GABRG2

Orthologs
for GABRG2

Paralogs
for GABRG2

SNPs/Variants
for GABRG2

Disorders & Mutations
for GABRG2

Medical News
for GABRG2

Publications
for GABRG2

Licensable Technologies
for GABRG2

Services
for GABRG2