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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GABRA5 Gene

protein-coding GIFtS: 65
GCID: GC15P027112

gamma-aminobutyric acid (GABA) A receptor, alpha 5

Explore 22 diseases affiliated with
GABRA5 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, Alpha 5¹ ²
GABA(A) Receptor Subunit Alpha-5² ³
Gamma-Aminobutyric Acid Receptor Subunit Alpha-5²

External Ids:	HGNC: 4079¹	Entrez Gene: 2558²	Ensembl: ENSG00000186297⁷	OMIM: 137142⁵	UniProtKB: P31644³

Export aliases for GABRA5 gene to outside databases

Previous GC identifers: GC15P023334 GC15P020091 GC15P024593 GC15P024722 GC15P024663 GC15P005288

(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 GABRA5:

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are

ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as

benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been

identified. Transcript variants utilizing three different alternative non-coding first exons have been described.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GBRA5_HUMAN, P31644

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 GABRA5:

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 GABRA5

(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_000015.9 NC_018926.1 NT_026446.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GABRA5 gene promoter:
SRF Max1 AML1a SRF (504 AA) NCX/Ncx HSF1 (long) MIF-1 Max HSF1short c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GABRA5 promoter sequence

Search SABiosciences Chromatin IP Primers for GABRA5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRA5

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

Entrez Gene cytogenetic band: 15q12 Ensembl cytogenetic band: 15q12 HGNC cytogenetic band: 15q12

GABRA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRA5 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P027112: view genomic region (about GC identifiers)

Start:	27,111,510 bp from pter	End:	27,194,357 bp from pter
Size:	82,848 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: GBRA5_HUMAN, P31644 (See protein sequence)

Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-5 precursor

Size: 462 amino acids; 52146 Da

Subunit: 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: A8K338 Q14DC2 Q53XL6 Q9NYT3 Q9NYT4 Q9NYT5

Explore the universe of human proteins at neXtProt for GABRA5: NX_P31644

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P31644

GABRA5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000801.1 NP_001158509.1

ENSEMBL proteins:

ENSP00000335592 ENSP00000347557 ENSP00000450653 ENSP00000451527 ENSP00000450806

ENSP00000450932 ENSP00000450717 ENSP00000450529 ENSP00000382953

Reactome Protein details: P31644
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	Browse Proteins at Uscn

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	1321750
GO:0016021	integral to membrane	--	--
GO:0030054	cell junction	IEA	--
GO:0030425	dendrite	IEA	--

GABRA5 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

GABRA5 for domains About GeneDecksing

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

IPR001390 GABAAa_rcpt

IPR005435 GABBAa5_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006028 GABAA_rcpt

IPR006201 Neur_channel

Graphical View of Domain Structure for InterPro Entry P31644

ProtoNet protein and cluster: P31644

4 Blocks protein families:

IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature

IPB005435 Gamma-aminobutyric-acid A receptor alpha 5 subunit signature

IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: GBRA5_HUMAN, P31644

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5)

subfamily. GABRA5 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: GBRA5_HUMAN, P31644

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 GABRA5:

gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 5,mainly expressed in the brain,with three isoforms,region

specific,may be involved in the susceptibility to bipolar affective disorder (? MAFD10),subunit,component of a

pentameric receptor mediating inhibitory neurotransmission

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRA5

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	1321750
GO:0004890	GABA-A receptor activity	IEA	--
GO:0005215	transporter activity	TAS	1321750
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--

GABRA5 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Gabra5^tm1Twr for GABRA5
     5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Gabra5):

behavior/neurological

hearing/vestibular/ear

nervous system

no phenotypic analysis

skeleton

GABRA5 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 - 5/9 super-pathways (see all 9) 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

Akt Signaling

Akt Signaling

1.00

Activation of GABAB receptors

GABA receptor activation

0.72

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GABRA5

GABA signaling in brain

1 R&D Systems Pathway for GABRA5

Synaptic Neurotransmission: GABAergic Inhibition

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRA5

	Sperm Motility
	Akt Signaling

1 Tocris Bioscience Pathway for GABRA5

Akt Pathway

5/8 Reactome Pathways for GABRA5 (see all 8)

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

1 Kegg Pathway (Kegg details for GABRA5):

Neuroactive ligand-receptor interaction

GABRA5 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GABRA5

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for GABRA5 (ENSP00000335592⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GABRA1	ENSP00000023897⁴	STRING: ENSP00000023897
GABRA2	ENSP00000348897⁴	STRING: ENSP00000348897
GABRA3	ENSP00000359334⁴	STRING: ENSP00000359334
GABRA4	ENSP00000264318⁴	STRING: ENSP00000264318
GABRA6	ENSP00000274545⁴	STRING: ENSP00000274545

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001662	behavioral fear response	IEA	--
GO:0006810	transport	TAS	1321750
GO:0006821	chloride transport	--	--
GO:0007165	signal transduction	TAS	1321750
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	--

GABRA5 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

GABRA5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GABRA5 available from Tocris Bioscience About this table

Compound	Action	CAS #
Muscimol	Potent GABAA agonist	[2763-96-4]
(+)-Bicuculline	Potent GABAA antagonist	[485-49-4]
L-655,708	Selective for alpha5-containing GABAA receptors	[130477-52-0]
AA 29504	Positive allosteric modulator of GABAA receptors	[945828-50-2]
SR 95531 hydrobromide	Selective, competitive GABAA receptor antagonist	[104104-50-9]

2 HMDB Compounds for GABRA5 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	--

10/45 DrugBank Compounds for GABRA5 (see all 45) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Flumazenil	Flumazenilo [Spanish] (see all 2)	78755-81-4	target	--	17306436 19907641 18788841 17368613 19411525 18175099
Flunitrazepam	--	1622-62-4	target	potentiator	17139284 20858465 17016423 20638393
Zopiclone	(+-)-zopiclone (see all 4)	43200-80-2	target	potentiator	20303942 19942638 18973287 6135616
Diazepam	--	439-14-5	target	potentiator	18384456 11752090 15009644
Lorazepam	(+/-)-Lorazepam (see all 3)	846-49-1	target	potentiator	20138190 18384456 11752090
Methylphenobarbital	Mephobarbital (see all 13)	115-38-8	target	potentiator	10209232 11264449 21194017
Adinazolam	--	37115-32-5	target	potentiator	6320036 6148400
Amobarbital	--	57-43-2	target	potentiator	10209232 11264449
Aprobarbital	--	77-02-1	target	potentiator	10209232 11264449
Barbital	--	57-44-3	target	potentiator	10209232 11264449

1 Novoseek chemical compound relationship for GABRA5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gaba	73.7	17	8136833 (1), 7795644 (1), 7601451 (1), 11543639 (1) (see all 11)

Search CenterWatch for drugs/clinical trials and news about GABRA5 / GBRA5

(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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About This Section

REFSEQ mRNAs for GABRA5 gene (2 alternative transcripts):

NM_000810.3 NM_001165037.1

Unigene Cluster for GABRA5:

Gamma-aminobutyric acid (GABA) A receptor, alpha 5

Hs.24969 [show with all ESTs]

Unigene Representative Sequence: AK126891

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

ENST00000335625(uc001zbd.2) ENST00000355395 ENST00000555182 ENST00000557484

ENST00000554038 ENST00000554596 ENST00000557449 ENST00000555060 ENST00000554599

ENST00000554083 ENST00000400081(uc021sgi.1)

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Additional cDNA sequence:

AK124673.1 AK126891.1 AK290453.1 AK294303.1 AK303742.1 BC011403.1 BC111979.1 BC113422.1

BT009830.1 L08485.1

4 DOTS entries:

DT.108991 DT.91659917 DT.101977357 DT.121034570

22 AceView cDNA sequences:

BM719912 AK124673 AL119253 F03181 BM676770 BU738949 AL035783 F07441

F03669 F06915 AK126891 BI552302 AI807646 BF966961 F07440 BT009830

BC011403 L08485 NM_000810 R35346 R49008 T28792

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GABRA5 (see all 6) About this scheme

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

ECgene alternative splicing isoforms for GABRA5

(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

GABRA5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTGGACTTA

About this image

GABRA5 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

ES04(HES-4) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GABRA5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GABRA5

SOURCE GeneReport for Unigene cluster: Hs.24969

SABiosciences Expression via Pathway-Focused PCR Arrays including GABRA5:

Neurotransmitter Receptors in human mouse rat

GABA & Glutamate in human mouse rat

Synaptic Plasticity 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 GABRA5 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	GABRA5¹	gamma-aminobutyric acid (GABA) A receptor, alpha 5	79.8(n) 89.39(a)		418684 XM_416880.3 XP_416880.2
lizard (Anolis carolinensis)	Reptilia	GABRA5⁶	--	88(a)	1 ↔ 1	3(110491411-110561535)
zebrafish (Danio rerio)	Actinopterygii	gabra5¹	gamma-aminobutyric acid (GABA) A receptor, alpha 5	72.58(n) 80.45(a)		799124 XM_001339475.3 XP_001339511.2
fruit fly (Drosophila melanogaster)	Insecta	Grd³	glycine-gated ion channel	46(a) (best of 2)		75A4 --
worm (Caenorhabditis elegans)	Secernentea	glc-1³	ligand-gated ion channel	33(a) (best of 2)		V(16222302-16223461) --

ENSEMBL Gene Tree for GABRA5 (if available)
TreeFam Gene Tree for GABRA5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GABRA5 gene

GABRG2² GABRE² GABRA2² GABRA6² GABRA4² GABRG1² GABRG3² GABRA3²

GABRA1²

18/23 SIMAP similar genes for GABRA5 using alignment to 8 protein entries: GBRA5_HUMAN (see all proteins) (see all similar genes):

GABRA3 GABRA2 GABRA1 GABRA4 GABRA6 GABRG2

GABRG3 GABRE GABRP GABRG1 GABRB3 GABRB1

GLRA4 GLRA2 GABRR1 GLRA3 GLRA1 GABRB2

GABRA5 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)
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SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs144972591^1,2		--	27109888(+)	`ACGCAA/GACACA`	1	--	us2k¹		0	--	--	--	--
rs117295781^1,2	F,	--	27109903(+)	`CTGTCT/CCAGTT`	1	--	us2k¹		1		NA	120
rs185553442^1,2		--	27109914(+)	`CCTGCC/TCCTGA`	1	--	us2k¹		0	--	--	--	--
rs147455124^1,2		--	27109962(+)	`TACTCA/TTGGCC`	1	--	us2k¹		0	--	--	--	--
rs139259449^1,2		--	27110012(+)	`GAAATA/GAAATT`	1	--	us2k¹		0	--	--	--	--
rs7170231^1,2	C,F,	--	27110022(+)	`TCTTAT/AGAAGC`	1	--	us2k¹		9		NA WA CSA EA	369
rs190415106^1,2		--	27110026(+)	`ATGAAA/GCCCGG`	1	--	us2k¹		0	--	--	--	--
rs183426464^1,2		--	27110027(+)	`TGAAGA/CCCGGG`	1	--	us2k¹		0	--	--	--	--
rs7170237^1,2	C,F,A,	--	27110040(+)	`AAGGCT/CGAGGT`	1	--	us2k¹		9		NA WA CSA EA	369
rs187092106^1,2		--	27110078(+)	`TCTTCC/TACAAC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GABRA5 (27111510 - 27194357 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GABRA5
1 CNV: 72208

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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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GABRA5 for disorders           About GeneDecksing

OMIM gene information: 137142    OMIM disorders: --

20/22 diseases for GABRA5 (see all 22):    About MalaCards

prader-willi syndrome childhood absence epilepsy absence epilepsy temporal lobe epilepsy

oculocutaneous albinism bipolar affective disorder autism spectrum disorder febrile seizures

bipolar i disorder focal epilepsy anorexia nervosa angelman syndrome

bipolar disorder autistic disorder migraine with aura alcohol dependence

albinism migraine seizures alcoholism

3 diseases from the University of Copenhagen DISEASES database for GABRA5:

Angelman syndrome Prader-Willi syndrome Autistic disorder

5 Novoseek disease relationships for GABRA5 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
angelman syndrome	82.5	1	11543639 (1)
childhood absence epilepsy	73.7	1	15498372 (1)
autistic	59.4	1	12092907 (1)
prader-willi syndrome	56.3	1	8388764 (1)
bipolar disorder	40	1	15882799 (1)

Genetic Association Database (GAD): GABRA5
Human Genome Epidemiology (HuGE) Navigator: GABRA5 (20 documents)

Export disorders for GABRA5 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 GABRA5 gene, integrated from 9 sources (see all 87):
(articles sorted by number of sources associating them with GABRA5)

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Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit. (PubMed id 1321750)^{1, 2, 3} Wingrove P....Whiting P. (1992)
Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. (PubMed id 9205108)^{1, 2, 9} Kim Y.... Lalande M. (1997)
The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. (PubMed id 15882799)^{1, 4, 9} Otani K....Kuroda S. (2005)
FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. (PubMed id 8388764)^{1, 2, 9} Knoll J.H.... Lalande M. (1993)
Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)^{1, 2} Denis N.J.... Figeys D. (2007)
Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (PubMed id 16080114)^{1, 4} Ma D.Q....Pericak-Vance M.A. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
[Case-control study and transmission/disequilibrium test of childhood absence epilepsy] (PubMed id 12048673)^{1, 4} Lu J....Wu X. (2002)
Association between GABA-A receptor alpha 5 subunit gene locus and schizophrenia of a later age of onset. (PubMed id 11287792)^{1, 4} Papadimitriou G....Stefanis C. (2001)
GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study. (PubMed id 11378843)^{1, 4} Papadimitriou G.N....Stefanis C.N. (2001)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2558	HGNC: 4079	AceView: GABRA5	Ensembl:ENSG00000186297	euGenes: HUgn2558
ECgene: GABRA5	Kegg: 2558	H-InvDB: GABRA5

(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 GABRA5	Pharmacogenomics, SNPs, Pathways
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt056.shtml

Intellectual Property for GABRA5 gene
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Patent Information for GABRA5 gene:
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GeneCards and IP:
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GABRA5 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 5

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GABRA5 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 5

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