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GABRB3 Gene

protein-coding GIFtS: 71

GC15M024342

gamma-aminobutyric acid (GABA) A receptor, beta 3
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
ECA5 ^², ⁵
MGC9051 ^²

Descriptions
GABA(A) receptor beta-3 subunit ^²
GABA(A) receptor subunit beta-3 ^³
GABA-A receptor beta-3 subunit ^²
GABA-alpha receptor beta-2 subunit ^²
GABAA receptor beta-3 subunit ^²
gamma-aminobutyric acid (GABA) A receptor, beta 3 ^²
gamma-aminobutyric acid A receptor, beta 3 ^¹

External Ids
HGNC: 4083¹
Entrez Gene: 2562²
UniProtKB: P28472³
Ensembl: ENSG00000166206⁷

Search outside databases for aliases for GABRB3 gene

Previous GC identifers: GC15M022994 GC15M019538 GC15M024209 GC15M024338

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

EntrezGene summary for GABRB3:

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of

at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for

gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is

located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of

the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome,

Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding isoforms

with distinct signal peptides have been described. [provided by RefSeq]

UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472

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 GABRB3

(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 GABRB3 gene

Entrez Gene cytogenetic band: 15q11.2-q12 Ensembl cytogenetic band: 15q12 HGNC cytogenetic band: 15q11.2-q12

GABRB3 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 15 GeneLoc Exon Structure

GeneLoc location for GC15M024342: (about GC identifiers)

Start:	24,339,786 bp from pter
End:	24,767,329 bp from pter
Size:	427,544 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000015.8 NT_026446.13

(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: GBRB3_HUMAN, P28472 (See protein sequence)

Recommended Name: Gamma-aminobutyric acid receptor subunit beta-3 precursor

Size: 473 amino acids; 54116 Da

Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A)

receptor chains: alpha, beta, gamma, delta, and rho

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

protein. Cell membrane; Multi-pass membrane protein

Secondary accessions: Q14352 Q96FM5

Alternative splicing: 2 isoforms: P28472-1 P28472-2 (Isoforms differ in their signal region)

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000805.1 NP_068712.1

ENSEMBL proteins:

ENSP00000308725 ENSP00000299267 ENSP00000372479

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant GABRB3 Protein
	Sigma-Aldrich AQUA Peptides for GABRB3
	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 beta 2 + 3, GABA A Receptor beta 3)
	Human Recombinant Proteins from Abnova (GABRB3)

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

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0005887	integral to plasma membrane	TAS	1664410
GO:0030054	cell junction	IEA	--
GO:0045202	synapse	IEA	--
GO:0045211	postsynaptic membrane	IEA	--

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Antibodies for GABRB3:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of GABRB3
	Sigma-Aldrich Antibodies for GABRB3
	R&D Systems Antibodies for GABRB3 (GABA-A-R beta 3)
	Antibodies from Abcam (GABA A Receptor beta 2 + 3, GABA A Receptor beta 3), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for GABRB3

Assays for GABRB3:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of GABRB3
	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)
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Graphical View of Domain Structure for InterPro Entry P28472

ProtoNet protein and cluster: P28472

3 Blocks protein families:

IPB002289 Gamma-aminobutyric-acid A receptor beta subunit signature

IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472

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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GABRB3)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GABRB3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_021912

Applied Biosystems Silencer® siRNAs for GABRB3

Sigma-Aldrich siRNA and siRNA Panels for GABRB3

Sigma-Aldrich shRNA for GABRB3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000814
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000814
untagged cDNA clones in CMV expression vector (see all 4): NM_000814

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_021912

UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472

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 GABRB3:

gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 3,subunit,component of a pentameric

receptor mediating inhibitory neurotransmission putatively involved in epileptic seizures in

Angelman syndrome (ANCR),unlikely to be involved in autism

13 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Gabrb3):

behavior/neurological	craniofacial	digestive/alimentary	growth/size	hearing/vestibular/ear
homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system
no phenotypic analysis	normal	reproductive system

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004890	GABA-A receptor activity	TAS	1664410
GO:0005216	ion channel activity	IEA	--
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--
GO:0030594	neurotransmitter receptor activity	IEA	--

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 GABRB3 (Your Favorite Gene powered by Ingenuity)

GABA Receptor Signaling

GeneDecks GABRB3 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for GABRB3

5/28 Interacting proteins for GABRB3 (ENSP00000372479³) via UniProtKB, MINT, and/or STRING (see all 28 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SNRPN	ENSP00000375105³	STRING (score=.949)
UBE3A	ENSP00000232165³	STRING (score=.937)
ATP10A	ENSP00000349325³	STRING (score=.911)
MKRN3	ENSP00000313881³	STRING (score=.905)
OCA2	ENSP00000346659³	STRING (score=.858)

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	IEA	--
GO:0007165	signal transduction	TAS	1664410

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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 GABRB3

Sigma-Aldrich Small Molecules for GABRB3:

Antagonist Allosteric Modulator Agonist Inhibitor Ligand

Compounds for GABRB3 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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(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 (GABRB3)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GABRB3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_021912

Sigma-Aldrich siRNA and siRNA Panels for GABRB3

Sigma-Aldrich shRNA for GABRB3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000814 NM_021912

REFSEQ mRNAs for GABRB3 gene (2 alternative transcripts):

NM_000814.4 NM_021912.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000814 NM_021912

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000814
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000814
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_000814

Additional cDNA sequence:

AK056018.1 AK095011.1 AK295167.1 AK302822.1 AK315311.1 BC010641.1 CR597025.1 M82919.1

5 DOTS entries:

DT.114079 DT.97860651 DT.92419326 DT.101977158 DT.121034552

24/179 AceView cDNA sequences (see all 179 ):

AW593469 BX340796 T17052 BM711834 BE670943 AW138113 AI206318 CB162957

BC010641 BU733771 AI915876 BX095863 AI638301 BE045632 AW293786 AW294342

NM_021912 BQ269006 BX332587 CR597025 BE463799 BE673640 AI811282 BX366284

highest scoring ESTs for GABRB3:

AL120032 AA129127 AA129128 AA317685 AA332100 AA350717 AA484709 AA987326 AI138367 AI206318

Unigene Cluster for GABRB3:

Gamma-aminobutyric acid (GABA) A receptor, beta 3

Hs.302352 [show with all ESTs]

Unigene Representative Sequence: NM_000814

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for GABRB3

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13a	·	13b	^	14
SP1:									-		-								-		-				-
SP2:									-		-		-						-		-				-
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for GABRB3

3 Ensembl transcripts including schematic representations:

ENST00000311550 ENST00000299267 ENST00000383015

(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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GABRB3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GABRB3

¹ / ² / ³

10 probe-sets matching GABRB3 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
63823_at²^{, 3}	U95-C	1	1.00	1.00	0.95	1.46	AL120032	0.80	1.00	0.91	1
31817_at²^{, 3}	U95-A	1	1.00	1.00	0.72	0.59	M82919	0.80	0.80	0.80	1
205850_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000814	0.60	1.00	0.82	1
227830_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI478781	0.60	1.00	0.82	1
229724_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI693153	0.60	1.00	0.82	1
227690_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BE502537	0.60	1.00	0.82	1
205850_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
227830_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
229724_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
227690_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks GABRB3 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: CTAAATCTGT

SOURCE GeneReport for Unigene cluster: Hs.302352
Expression variation in blood from EXPOLDB for GABRB3

(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 GABRB3 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GABRB3¹	--	gamma-aminobutyric acid (GABA) A receptor, beta 3	93.11(n) 97.15(a)	606913 XM_843389.1 XP_848482.1
chimpanzee (Pan troglodytes)	GABRB3¹	--	gamma-aminobutyric acid (GABA) A receptor, beta 3	99.58(n) 99.79(a)	453265 XM_510254.2 XP_510254.2
rat (Rattus norvegicus)	Gabrb3¹	--	gamma-aminobutyric acid (GABA) A receptor, beta 3	91.61(n) 97.04(a)	24922 NM_017065.1 NP_058761.1
mouse (Mus musculus)	Gabrb3^{1, 5}	7 (28.60 cM)⁵	gamma-aminobutyric acid (GABA) A receptor, subunit more⁵ gamma-aminobutyric acid (GABA-A) receptor, subunit more¹	91.97(n)¹ 97.25(a)¹	14402¹ NM_008071.3¹ NP_032097.1¹ AK034034⁵ AK039070⁵ (see all 18)
chicken (Gallus gallus)	GABRB3¹	--	gamma-aminobutyric acid (GABA) A receptor, beta 3	82.8(n) 91.97(a)	396290 NM_205346.1 NP_990677.1

About this table Species with no ortholog for GABRB3

ENSEMBL Gene Tree for GABRB3

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for GABRB3 gene

GABRB2² GABRB1²

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

10/1535 NCBI SNPs in GABRB3 are shown (see all 1535 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 522)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2017247^1,2	C,F,H,O	24340255(-)	`AAAGAA/GCTGCC`	2	--	ut3¹		12		EU EA WA NA	1054
	rs4906902^1,2	A,C,F,H	24570861(+)	`GCATTA/GATTTT`	2	--	ng3¹		8		EU EA WA	832
	rs8179184^1,2	A,C,F,H	24570695(-)	`AATCTA/C/G/T AAGAA`	2	--	ng3¹		8		EU EA WA NA	774
	rs8039596^1,2	A,C,F,H	24571744(+)	`aacatC/Tctagt`	1	--	ng3¹		8		EU EA WA	836
	rs2912582^1,2	C,F,H	24343483(-)	`GCTTCT/CTGGCT`	2	--	ut3¹ ese³		7		EU EA WA NA	560
	rs2928694^1,2	F,H	24341387(+)	`CCCAAG/AGATCT`	2	--	ut3¹ ese³		4		EU EA WA	414
	rs7171660^1,2	A,C	24570505(+)	`CCTCTA/GGACCA`	2	--	ng3¹		0	--	--	--	--
--	rs11858484^1,2	A,C	24571973(+)	`CTTGCA/TCCTAC`	1	--	ng3¹		0	--	--	--	--
	rs9672674^1,2	A,C	24570756(+)	`GACTCA/TTTTTT`	2	--	ng3¹		0	--	--	--	--
	rs4363842^1,2	A,C	24570498(+)	`ACCCCA/GCCCTC`	2	--	ng3¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for GABRB3 (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.)
About This Section

OMIM: 137192

UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472

Defects in GABRB3 are a cause of chonic insomnia. Insomnia is characterized by impairment

of the ability to initiate or maintain sleep. This may occur as a primary disorder or in

association with another medical or psychiatric condition

Defects in GABRB3 are the cause of childhood absence epilepsy type 5 (ECA5) [MIM:612269].

ECA5 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. Absence

seizures may either remit or persist into adulthood

10/11 Novoseek disease relationships for GABRB3 gene (see all 11 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
angelman syndrome	92.74	14	10515160 (2), 8389098 (2), 10514831 (1), 8094063 (1) (see all 10)
prader-willi syndrome	78.41	2	8188218 (1), 1664410 (1)
childhood absence epilepsy	72.08	3	15498372 (1), 18514161 (1), 12194792 (1)
autistic	66.26	6	17598645 (2), 12491987 (2), 12092907 (1), 11920158 (1)
rett syndrome	53.32	1	17339270 (1)
pervasive developmental disorder	46.38	1	11785506 (1)
cleft palate	39.61	6	18452349 (3), 8389469 (1)
epilepsy	32.37	1	10515160 (1)
chromosomal aberrations	25.89	1	12491987 (1)
alcoholism	21.28	3	15296817 (2)

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1 PharmGKB disease relationship for GABRB3 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Autistic Disorder	GN	11920158 10490705 9545402

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Human Gene Mutation Database: GABRB3
Genetic Association Database: GABRB3
Human Genome Epidemiology Navigator: GABRB3 (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)
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10/109 PubMed articles for GABRB3 gene (see all 109 ):

Association between a GABRB3 polymorphism and autism. (PubMed id 11920158)^{1, 3, 6, 7} Buxbaum J.D....Vitale R. (2002)
Alcohol-related expectancies are associated with the D2 dopamine receptor and GABAA receptor beta3 subunit genes. (PubMed id 15296817)^{1, 3, 6} Young R.M....Noble E.P. (2004)
The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. (PubMed id 1664410)^{1, 3, 4} Wagstaff J.... Lalande M. (1991)
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (PubMed id 18514161)^{1, 3, 4} Tanaka M....Delgado-Escueta A.V. (2008)
A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). (PubMed id 8382702)^{1, 3, 4} Kirkness E.F. and Fraser C.M. (1993)
Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. (PubMed id 1714232)^{1, 3, 4} Wagstaff J.... Lalande M. (1991)
ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles. (PubMed id 15318112)^{1, 3, 6} Konishi T....Wan Y.J. (2004)
Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (PubMed id 16080114)^{3, 6} Ma D.Q....Pericak-Vance M.A. (2005)
Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA(A) receptor beta(3) subunit genes and alcoholism in Mexican-Americans. (PubMed id 15066703)^{3, 6} Konishi T....Wan Y.J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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, and/or H-InvDB)
About This Section

Entrez Gene: 2562	HGNC: 4083	AceView: GABRB3	Ensembl:ENSG00000166206	euGenes: HUgn2562
ECgene: GABRB3	H-InvDB: GABRB3

(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 GABRB3
(Available from WIS Yeda, Salk, Tufts)

About This Section

(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)
About This Section

Products for GABRB3:

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 GABRB3-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 GABRB3		Antibodies for GABRB3
	Explore super-pooled esiRNAs		Proteins for GABRB3
	Lentivirus-delivered shRNAs for GABRB3		Small molecules for GABRB3
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (GABRB3)
	Search for Antibodies
	Chimera RNAi (GABRB3)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (GABA A Receptor beta 2 + 3, GABA A Receptor beta 3)
	Antibodies (GABA A Receptor beta 2 + 3, GABA A Receptor beta 3)

Search OriGene for GABRB3

Tocris compounds for GABRB3

	Drugs for GABRB3
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for GABRB3

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

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

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
GABRB3 Gene at Home site.
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GABRB3 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for GABRB3

Summaries
for GABRB3

Genomic Location
for GABRB3

Proteins
for GABRB3

Protein Domains/
Families
for GABRB3

Gene Function
for GABRB3

Pathways & Interactions
for GABRB3

Drugs & Compounds
for GABRB3

Transcripts
for GABRB3

Expression
for GABRB3

Orthologs
for GABRB3

Paralogs
for GABRB3

SNPs/Variants
for GABRB3

Disorders & Mutations
for GABRB3

Medical News
for GABRB3

Publications
for GABRB3

Search for GABRB3

Genome Databases showing GABRB3

Other Databases showing GABRB3

Specialized Databases showing GABRB3

Licensable Technologies
for GABRB3

Services
for GABRB3

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

GABRB3 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor GABRB3

Summariesfor GABRB3

Genomic Locationfor GABRB3

Proteinsfor GABRB3

Protein Domains/Familiesfor GABRB3

Gene Functionfor GABRB3

Pathways & Interactionsfor GABRB3

Drugs & Compoundsfor GABRB3

Transcriptsfor GABRB3

Expression for GABRB3

Orthologsfor GABRB3

Paralogsfor GABRB3

SNPs/Variantsfor GABRB3

Disorders & Mutationsfor GABRB3

Medical Newsfor GABRB3

Publicationsfor GABRB3

Search for GABRB3

Genome Databases showing GABRB3

Other Databases showing GABRB3

Specialized Databases showing GABRB3

Licensable Technologiesfor GABRB3

Servicesfor GABRB3

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 GABRB3

Summaries
for GABRB3

Genomic Location
for GABRB3

Proteins
for GABRB3

Protein Domains/
Families
for GABRB3

Gene Function
for GABRB3

Pathways & Interactions
for GABRB3

Drugs & Compounds
for GABRB3

Transcripts
for GABRB3

Expression
for GABRB3

Orthologs
for GABRB3

Paralogs
for GABRB3

SNPs/Variants
for GABRB3

Disorders & Mutations
for GABRB3

Medical News
for GABRB3

Publications
for GABRB3

Licensable Technologies
for GABRB3

Services
for GABRB3