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GABRG2 Gene

protein-coding GIFtS: 68
GCID: GC05P161494

Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2

See GABRG2-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2¹ ²		GABA(A) Receptor¹
GABA(A) Receptor Subunit Gamma-2² ³		Gamma 2¹
CAE2² ⁵		GABA(A) Receptor, Gamma 2²
ECA2² ⁵		Gamma-Aminobutyric Acid Receptor Subunit Gamma-2²
GEFSP3² 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GABRG2 Gene:

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the

mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are

pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in

this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding

different isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GABRG2 Gene:

GABRG2 (gamma-aminobutyric acid (GABA) A receptor, gamma 2) is a protein-coding gene. Diseases associated with GABRG2 include febrile seizures, familial, 8, and psychomotor disease. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRE.

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 Gene:

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 Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000005.9 NC_018916.2 NT_023133.14

Regulatory elements:

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 Chromatin IP Primers for GABRG2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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

Miscellaneous: This subunit carries the benzodiazepine binding site

Secondary accessions: F5HB82 Q6GRL6 Q6PCC3 Q9UDB3 Q9UN15

Alternative splicing: 3 isoforms: P18507-1 P18507-2 P18507-3 (No experimental confirmation available)

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

Explore proteomics data for GABRG2 at MOPED

Post-translational modifications:

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

similarity)¹

Glycosylation² at Asn52, Asn129, Asn247

Modification sites at PhosphoSitePlus

See GABRG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

GABRG2 Human Recombinant Protein Products:

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	antibodies-online peptides for GABRG2

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	antibodies-online kits for GABRG2 (5 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

GABRA: Ligand-gated ion channels / GABA(A) receptors

GABR: GABA receptors

IUPHAR Guide to PHARMACOLOGY protein family classification: gamma2

GABA_A receptors

Selected InterPro protein domains (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 domains:

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

Find genes that share domains with GABRG2 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: 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

Gene Ontology (GO): 5 molecular function terms: 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

Find genes that share ontologies with GABRG2 About GenesLikeMe

Phenotypes:
7 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Gabrg2):

behavior/neurological	growth/size/body	homeostasis/metabolism	mortality/aging	nervous system
normal	reproductive system

Find genes that share phenotypes with GABRG2 About GenesLikeMe

Animal Models:
MGI mouse knock-outs for GABRG2: Gabrg2^tm1Geh Gabrg2^tm2.1Geh Gabrg2^tm1Lusc

genOway: Develop your customized and physiologically relevant rodent model for GABRG2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRG2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

GBRG2_HUMAN, P18507: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell

membrane; Multi-pass membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	5
extracellular	1

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Gene Ontology (GO): Selected cellular component terms (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral component of plasma membrane	TAS	2538761
GO:0016020	membrane	--	--
GO:0016021	integral component of membrane	--	--

Find genes that share ontologies with GABRG2 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for GABRG2 About (see all 13)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	0.72			Neuronal System	0.68
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Circadian entrainment

	GABAergic synapse	0.53			Retrograde endocannabinoid signaling	0.51
	Morphine addiction	0.53

Ligand-gated ion channel transport

GABA A receptor activation

0.00

Ligand-gated ion channel transport

GABA receptor activation

GABA receptor activation

0.73

Akt Signaling

Akt Signaling

0.60

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Pathways by source See SuperPaths
Show all pathways

1 R&D Systems Pathway for GABRG2

Synaptic Neurotransmission: GABAergic Inhibition

2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRG2

	Sperm Motility
	Akt Signaling

1 Tocris Bioscience Pathway for GABRG2

Akt Pathway

2 Reactome Pathways for GABRG2

	GABA A receptor activation
	Ligand-gated ion channel transport

1 PharmGKB Pathway for GABRG2

Benzodiazepine Pathway, Pharmacodynamics

5 Kegg Pathways (Kegg details for GABRG2):

	Neuroactive ligand-receptor interaction
	Retrograde endocannabinoid signaling
	GABAergic synapse
	Morphine addiction
	Nicotine addiction

Pathway & Disease-focused RT² Profiler PCR Arrays including GABRG2:

Neurotransmitter Receptors in human mouse rat

GABA & Glutamate in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for GABRG2

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

Selected Interacting proteins for GABRG2 (P18507³ ENSP00000410732⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DRD5	P21918³, ENSP00000306129⁴	I2D: score=1 STRING: ENSP00000306129
PIK3R1	P27986³, ENSP00000274335⁴	I2D: score=1 STRING: ENSP00000274335
PPP3CA	Q08209³, ENSP00000378323⁴	I2D: score=1 STRING: ENSP00000378323
GABARAP	O95166³, ENSP00000306866⁴	I2D: score=4 STRING: ENSP00000306866
GABRA1	ENSP00000023897⁴	STRING: ENSP00000023897

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Gene Ontology (GO): Selected biological process terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	2538761
GO:0006811	ion transport	--	--
GO:0006821	chloride transport	--	--
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	--
GO:0007268	synaptic transmission	TAS	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Compounds for GABRG2 available from Tocris Bioscience About this table

Compound	Action	CAS #
(+)-Bicuculline	Potent GABAA antagonist	[485-49-4]
Muscimol	Potent GABAA agonist	[2763-96-4]
(-)-Bicuculline methiodide	Water-soluble GABAA antagonist	[40709-69-1]
(-)-Bicuculline methochloride	Water-soluble GABAA antagonist	[53552-05-9]
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	--

Selected DrugBank Compounds for GABRG2 (see all 24) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Clotiazepam	--	33671-46-4	target	potentiator	18604239 10592235 18855614
Flumazenil	Flumazenilo [Spanish] (see all 2)	78755-81-4	target	antagonist	11864636 17974564 8693922
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	Aedon (see all 23)	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

1 IUPHAR Ligand for GABRG2 (gamma2) About this table

Ligand	Type	Action	Affinity	Pubmed IDs
TBPS	Channel blocker	None		--

6 Novoseek inferred 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)

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat GABRG2
		QuantiTect SYBR Green Assays in human, mouse, rat GABRG2
		QuantiFast Probe-based Assays in human, mouse, rat GABRG2

Additional mRNA 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

Selected AceView cDNA sequences (see all 72):

CD108432 BX280206 T09226 BM724819 AA318955 BM666264 NM_198904 AV725717

BM698428 BC069348 BU736179 BM718397 AA365957 BF221573 NM_000816 BQ716996

NM_198903 BC074795 BX642049 AW949419 AK123394 F13483 AA063111 CD013897

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GABRG2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGGACTTTTA

About this image

GABRG2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 6) fully expand


Brain (Nervous System) fully expand to see all 24 entries
Thalamus
Septum

Eye (Sensory Organs) fully expand to see all 2 entries
Mature Rod Bipolar Cells Inner Nuclear Layer
Corneal Stroma

Neural Tube (Nervous System) fully expand to see all 2 entries
Telencephalon

NULL (Uncategorized)
Neural rosettes

Neurons
Mature Rod Bipolar Cells Inner Nuclear Layer

GABRG2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

GABRG2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.7195

Pathway & Disease-focused RT² Profiler PCR Arrays including GABRG2:

Neurotransmitter Receptors in human mouse rat

GABA & Glutamate in human mouse rat

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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)
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This gene was present in the common ancestor of animals.

Orthologs for GABRG2 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gabrg2^{1 , 5}	gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 less^{1, 5}	91(n)¹ 99.16(a)¹		11 (24.80 cM)⁵ 14406¹ NM_008073.3¹ NP_032099.1¹ 41910203⁵
chicken (Gallus gallus)	Aves	GABRG2¹	gamma-aminobutyric acid (GABA) A receptor, gamma 2	80.73(n) 92.62(a)		396289 NM_205345.2 NP_990676.1
lizard (Anolis carolinensis)	Reptilia	GABRG2⁶	gamma-aminobutyric acid (GABA) A receptor, gamma 2...	90(a)	1 ↔ 1	1(106988706-107073096)
tropical clawed frog (Xenopus tropicalis)	Amphibia	gabrg2¹	gamma-aminobutyric acid (GABA) A receptor, gamma 2	77.64(n) 88.82(a)		779514 XM_002941635.2 XP_002941681.1
zebrafish (Danio rerio)	Actinopterygii	Dr.27735²	Transcribed sequence with weak similarity to protein prf1506443A (H.sapiens) 1506443A GABAa receptor gamma2 [Homo sapiens] less	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 GABRG1² GABRA3² GABRA1² GABRA4² GABRA6² GABRG3²

GABRA5²

Selected SIMAP similar genes for GABRG2 using alignment to 5 protein entries: GBRG2_HUMAN (see all proteins) (see all similar genes):

GABRG3 GABRG1 GABRE GABRA2 GABRA5 GABRA4

GABRA3 GABRA6 GABRA1 GABRP GLRA4 GABRD

GABRR2 GABRB1 GLRA2 GABRB2 GLRA3 GABRQ

Find genes that share paralogs with GABRG2 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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
				--	--	--		--	--
VAR_038602⁴		Febrile seizures, familial, 8 (FEB8)⁴	--	see VAR_038602	2	R G	mis⁴		0	--	--	--	--
VAR_014266⁴		Generalized epilepsy with febrile seizures plus 3 (GEFS+3)⁴	--	see VAR_014266	2	K M	mis⁴		0	--	--	--	--
rs28933070^1,2,4		Febrile seizures, familial, 8 (FEB8)⁴	--	see VAR_014265	2		mis⁴		0	--	--	--	--
rs35867676^1,2	C	--	156590479(+)	`ACTTC-/AATAATCT`	3	--	cds¹		0	--	--	--	--
rs34496139^1,2	C	--	156590480(+)	`CTTCA-/AATATCTT`	3	--	cds¹		0	--	--	--	--
rs71587177^1,2	C	--	156590483(+)	`TCAATAAT/-CTTTT`	3	--	cds¹		1		NA	2
rs10644742^1,2	C	--	156624360(+)	`ATTTATTTTA/- AGACA`	3	--	int¹		1		NA	2
rs59148473^1,2	C	--	156626517(+)	`TTGGGC/G/TGGGGG`	3	--	int¹		1		NA	2
rs146272667^1,2	C	--	156637822(+)	`GTGTG-/TCTGTAA`	3	--	int¹		0	--	--	--	--
rs35649872^1,2	C	--	156662477(+)	`AAAAAAA/-GATTT`	3	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for GABRG2 (161494546 - 161582545 bp)

Structural Variations
Database of Genomic Variants (DGV) 7 variations for GABRG2: About this table

Variant ID	Type	Subtype	PubMed ID
esv2660260	CNV	Deletion	23128226
esv2664892	CNV	Deletion	23128226
esv2667841	CNV	Deletion	23128226
nsv883078	CNV	Loss	21882294
dgv6366n71	CNV	Loss	21882294
nsv883074	CNV	Loss	21882294
esv22373	CNV	Loss	19812545

Human Gene Mutation Database (HGMD): 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.)
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OMIM gene information: 137164
OMIM disorders: 611277 607681
UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507

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. 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. 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. Note=The disease is caused by mutations affecting the gene

represented in this entry

Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]: 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. Some patients

manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core SMEI.

SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile

seizures-plus. Note=The disease is caused by mutations affecting the gene represented in this entry

14 diseases for GABRG2:
About MalaCards

febrile seizures, familial, 8 psychomotor disease febrile seizures epilepsy, generalized, with febrile seizures plus, type 3

myoclonic epilepsy of infancy epilepsy, generalized, with febrile seizures plus, type 1 dravet syndrome juvenile absence epilepsy

childhood absence epilepsy hyperekplexia

3 inferred disease relationships from the University of Copenhagen DISEASES database for GABRG2:

Idiopathic generalized epilepsy Dravet Syndrome Juvenile absence epilepsy

Find genes that share disorders with GABRG2 About GenesLikeMe

Selected Novoseek inferred 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)
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PubMed articles for GABRG2 gene, integrated from 10 sources (see all 165):
(articles sorted by number of sources associating them with GABRG2)

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

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. (PubMed id 20485450)^{1, 2, 4} Shi X.... Hirose S. (J. Hum. Genet. 2010)
Haplotype association between GABAA receptor gamma2 subunit gene (GABRG2) and methamphetamine use disorder. (PubMed id 15772696)^{1, 4, 9} Nishiyama T....Ozaki N. (Pharmacogenomics J. 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. (Neurosci. Lett. 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. (Pediatr. Res. 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. (Neurosci. Lett. 2003)
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (PubMed id 12694927)^{1, 4, 9} Madia F....Zara F. (Epilepsy Res. 2003)
Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. (PubMed id 11328646)^{1, 2, 9} Jiang S.... Yang H. (DNA Seq. 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. (Hum. Genet. 2000)
Screening of GABA(A)-receptor gene mutations in primary dystonia. (PubMed id 17880575)^{1, 4, 9} Shang H....Kaelin-Lang A. (Eur. J. Neurol. 2007)
Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs. (PubMed id 16806831)^{1, 4, 9} Kinirons P....Doherty C.P. (Epilepsy Res. 2006)

(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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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/056

Intellectual Property for GABRG2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GABRG2 gene:
Search GeneIP for patents involving GABRG2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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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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