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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC6A12 Gene

protein-coding GIFtS: 59
GCID: GC12M000299

solute carrier family 6 (neurotransmitter transporter, betaine/GABA),...

Explore 8 diseases affiliated with
SLC6A12 via

MalaCards

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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
Solute Carrier Family 6 (Neurotransmitter Transporter, Betaine/GABA), Member 12¹ ²		GAT2²
BGT-1¹ ² ³		Gamma-Aminobutyric Acid Transporter²
Na(+)/Cl(-) Betaine/GABA Transporter² ³		Sodium- And Chloride-Dependent Betaine Transporter²
BGT1²		Solute Carrier Family 6 Member 12³

External Ids:	HGNC: 11045¹	Entrez Gene: 6539²	Ensembl: ENSG00000111181⁷	OMIM: 603080⁵	UniProtKB: P48065³

Export aliases for SLC6A12 gene to outside databases

Previous GC identifers: GC12M000153 GC12M000169

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

UniProtKB/Swiss-Prot: S6A12_HUMAN, P48065

Function: Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the

reuptake of GABA into presynaptic terminals, as well as in osmotic regulation

summary for SLC6A12:

GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that

mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters

(GAT-1, GAT-2, GAT-3 and BGT-1) have been identified and localized to neurons and glia. While GAT-1, GAT-2,

GAT-3 and BGT-1 bind GABA with varying affinities, they share structural motifs including 12-TM domains,

extracellular glycosylation sites and intracellular consensus sites for phosphorylation. A vesicular

transporter (VGAT) has also been identified. This member of the SCL32 family is both structurally and

functionally distinct, containing 10-TM domains and being found in GABAergic and glycinergic neurons. Some

anticonvulsants have been reported to act upon the GABA transporters. There is evidence to suggest that GABA

transporters are linked to epilepsy, affective disorders and schizophrenia.

(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_000012.11 NC_018923.1 NT_009759.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC6A12 gene promoter:
AREB6 Tal-1 YY1 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC6A12 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC6A12

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A12

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

Entrez Gene cytogenetic band: 12p13 Ensembl cytogenetic band: 12p13.33 HGNC cytogenetic band: 12p13

SLC6A12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A12 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M000299: view genomic region (about GC identifiers)

Start:	299,243 bp from pter	End:	323,736 bp from pter
Size:	24,494 bases	Orientation:	minus 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: S6A12_HUMAN, P48065 (See protein sequence)

Recommended Name: Sodium- and chloride-dependent betaine transporter

Size: 614 amino acids; 69368 Da

Subunit: Interacts with LIN7C (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: A0AV52 B2R992 D3DUN8

Explore the universe of human proteins at neXtProt for SLC6A12: NX_P48065

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P48065

SLC6A12 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001116319.1 NP_001116320.1 NP_001193860.1 NP_003035.3

ENSEMBL proteins:

ENSP00000352702 ENSP00000399136 ENSP00000444268 ENSP00000439351 ENSP00000446082

ENSP00000380464 ENSP00000388184

Reactome Protein details: P48065
Human Recombinant Protein Products:

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	Uscn Proteins for SLC6A12

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IEA	--
GO:0016021	integral to membrane	TAS	7861179

SLC6A12 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC6A12

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

SLC6A12 for domains About GeneDecksing

2 InterPro domains/families:

IPR000175 Na/ntran_symport

IPR002983 Na/ntran_symport_betaine

Graphical View of Domain Structure for InterPro Entry P48065

ProtoNet protein and cluster: P48065

1 Blocks protein family: IPB002983 Betaine transporter signature

UniProtKB/Swiss-Prot: S6A12_HUMAN, P48065

Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A12 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: S6A12_HUMAN, P48065

Function: Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the

reuptake of GABA into presynaptic terminals, as well as in osmotic regulation

Genatlas biochemistry entry for SLC6A12:

solute carrier family 6,member A12,neurotransmitter transporter,betaine/GABA,expressed in brain,kidney,activated by

tonicity responsive enhancers (TONE1-TONE2),located in the 5'flanking region of the gene

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A12

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005328	neurotransmitter:sodium symporter activity	IEA	--
GO:0005332	gamma-aminobutyric acid:sodium symporter activity	IEA	--

SLC6A12 for ontologies About GeneDecksing

Animal Models:
1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Slc6a12):

behavior/neurological

SLC6A12 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 - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Amino acid and oligopeptide SLC transporters

	Amino acid and oligopeptide SLC transporters	1.00			Transport of inorganic cations/anions and amino acids/oligopeptides	0.52
	Amino acid transport across the plasma membrane	0.63

SLC-mediated transmembrane transport

	SLC-mediated transmembrane transport	1.00			Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	0.38
	Transmembrane transport of small molecules	0.50

GABA synthesis, release, reuptake and degradation

GABA synthesis, release, reuptake and degradation

1.00

Neurotransmitter Release Cycle

0.53

Transmission across Chemical Synapses

Transmission across Chemical Synapses

1.00

Neuronal System

0.67

Amine compound SLC transporters

Amine compound SLC transporters

1.00

Na+/Cl- dependent neurotransmitter transporters

0.63

Pathway sources
See GeneCards unified pathways
Show all pathways

5/13 Reactome Pathways for SLC6A12 (see all 13)

	Transmission across Chemical Synapses
	GABA synthesis, release, reuptake and degradation
	Na+/Cl- dependent neurotransmitter transporters
	Amino acid transport across the plasma membrane
	Amine compound SLC transporters

1 PharmGKB Pathway for SLC6A12

Benzodiazepine Pathway, Pharmacodynamics

SLC6A12 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SLC6A12

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for SLC6A12 (P48065³ ENSP00000352702⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LIN7A	O14910³, ENSP00000261203⁴	I2D: score=1 STRING: ENSP00000261203
ERBB2IP	Q96RT1³	I2D: score=1
SCRIB	ENSP00000349486⁴	STRING: ENSP00000349486

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	7861179
GO:0006811	ion transport	TAS	--
GO:0006865	amino acid transport	TAS	--
GO:0007268	synaptic transmission	TAS	--
GO:0007269	neurotransmitter secretion	TAS	--

SLC6A12 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

SLC6A12 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SLC6A12 available from Tocris Bioscience About this table

Compound	Action	CAS #
NNC 05-2090 hydrochloride	GABA uptake inhibitor; moderately BGT-1 selective	[184845-43-0]
Riluzole hydrochloride	Glutamate release inhibitor/GABA uptake inhibitor	[1744-22-5]
(S)-SNAP 5114	GABA uptake inhibitor	[157604-55-2]
SKF 89976A hydrochloride	Potent GABA uptake inhibitor. Penetrates blood brain barrier	[85375-15-1]
(�)-Nipecotic acid	GABA uptake inhibitor	[60252-41-7]

2 HMDB Compounds for SLC6A12 About this table

Compound	Synonyms	CAS #	PubMed Ids
Betaine	(Carboxymethyl)trimethylammonium hydroxide inner salt (see all 31)	107-43-7	11380820
Sodium	Sodium (see all 2)	7440-23-5	--

7 Novoseek chemical compound relationships for SLC6A12 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
betaine	83.5	25	15322381 (2), 15452713 (2), 7861179 (2), 9633613 (2) (see all 14)
gaba	81.8	50	8443569 (3), 8710929 (2), 7861179 (2), 12351264 (2) (see all 39)
nacl	21.7	6	15173573 (2), 18056707 (1), 9633613 (1), 16303854 (1)
dopamine	19.4	6	12351264 (2), 7936402 (1), 10196144 (1), 15518916 (1) (see all 5)
norepinephrine	16.8	6	12351264 (2), 8710929 (1), 16798738 (1)
aspartate	4.56	1	15518916 (1)
glutamate	1.07	1	15518916 (1)

Search CenterWatch for drugs/clinical trials and news about SLC6A12 / S6A12

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC6A12 gene (4 alternative transcripts):

NM_001122847.2 NM_001122848.2 NM_001206931.1 NM_003044.4

Unigene Cluster for SLC6A12:

Solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12

Hs.437174 [show with all ESTs]

Unigene Representative Sequence: AK125026

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

ENST00000359674(uc001qia.3) ENST00000545058(uc001qhy.3) ENST00000424061(uc001qhz.3)

ENST00000536824 ENST00000542825 ENST00000535498 ENST00000544782 ENST00000538272

ENST00000540094 ENST00000538580 ENST00000536116 ENST00000537793 ENST00000535347

ENST00000537826 ENST00000538424 ENST00000397296 ENST00000428720(uc001qib.3 uc009zdh.2 uc009zdi.1)

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		hsa-miR-1291 hsa-miR-3714
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Additional cDNA sequence:

AK096046.1 AK125026.1 AK131564.1 AK307167.1 AK313690.1 BC026339.1 BC036838.1 BC126215.1

BC126217.1 L42300.1 U27699.1

7 DOTS entries:

DT.101981353 DT.211995 DT.92418324 DT.102836008 DT.121215623 DT.65287240 DT.121215610

24/55 AceView cDNA sequences (see all 55):

AU131194 AK131564 AI624051 BX355588 BC036838 BI756400 CR608440 BG426374

AK096046 N49856 BV199105 BV191301 BV191302 AA931061 AI628418 L42300

BG054689 BF446694 U27699 BX107444 NM_003044 AL698863 AI627338 AK125026

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A12 (see all 11) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14a	·	14b	^	15	^	16	^	17a	·	17b	^	18	^	19	^
SP1:					-		-				-		-				-								-								-				-
SP2:											-						-								-								-				-
SP3:																																													-		-		-
SP4:																															-		-				-
SP5:

ExUns:	20	^	21	^	22
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SLC6A12

(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

SLC6A12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SLC6A12 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

AII Amacrine Cells

Amacrine, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

See SLC6A12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC6A12

SOURCE GeneReport for Unigene cluster: Hs.437174

UniProtKB/Swiss-Prot: S6A12_HUMAN, P48065

Tissue specificity: Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain

SABiosciences Expression via Pathway-Focused PCR Arrays including SLC6A12:

GABA & Glutamate in human mouse rat

Osmotic Stress 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 SLC6A12 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC6A13¹	solute carrier family 6 (neurotransmitter transporter, more	72.3(n) 73.34(a)		418147 XM_416378.3 XP_416378.3
lizard (Anolis carolinensis)	Reptilia	SLC6A12⁶	--	77(a)	1 ↔ 1	5(11742641-11777191)
zebrafish (Danio rerio)	Actinopterygii	Dr.25768²	Transcribed sequence with weak similarity to protein more	76.69(n)		CA474242.1
worm (Caenorhabditis elegans)	Secernentea	snf-11³	Na(+)/Cl(-)-dependent GABA transporter	48(a) (best of 8)		V(11307950-11311658) --

ENSEMBL Gene Tree for SLC6A12 (if available)
TreeFam Gene Tree for SLC6A12 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC6A12 gene

SLC6A6² SLC6A11² SLC6A14² SLC6A5² SLC6A8² SLC6A1² SLC6A3² SLC6A13²

SLC6A4² SLC6A2² SLC6A7² SLC6A9²

18/20 SIMAP similar genes for SLC6A12 using alignment to 3 protein entries: S6A12_HUMAN (see all proteins) (see all similar genes):

SLC6A13 SLC6A11 SLC6A6 DAT1 SLC6A8 SLC6A3

SLC6A4 SLC6A1 SLC6A2 SLC6A7 5HTT SLC6A9

SLC6A14 SLC6A5 SLC6A15 SLC6A19 SLC6A20 SLC6A18

SLC6A12 for paralogs About GeneDecksing

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

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181925311^1,2	C,	unknown	310005(+)	`TTTGCA/GTCTGT`	4	--	int¹		0	--	--	--	--
rs495655^1,2	C,F,A,H,	--	298782(+)	`CCTTGT/ACCCAG`	4	--	ds500¹ int¹		14		MN NA WA CSA EA	560
rs75572847^1,2	C,	--	298877(+)	`CCTGCC/TTCCTC`	4	--	int¹ ds500¹		4		CSA WA NA EA	360
rs140608312^1,2		--	298924(+)	`GGACTC/TGGTAG`	4	--	ds500¹ int¹		0	--	--	--	--
rs35708012^1,2	C,	--	299009(+)	`CCCCC-/TGGGAC`	4	--	ds500¹ int¹		1		CSA	2
rs146026144^1,2		--	299017(+)	`GACACG/TCTCAC`	4	--	ds500¹ int¹		0	--	--	--	--
rs515932^1,2	C,F,O,A,H,	--	299043(+)	`CGTGGG/AGGAAT`	4	--	ds500¹ int¹		26		MN NS EA NA CSA WA	2950
rs147709784^1,2	C,	--	299213(+)	`TCAAC-/AGA AACGGAGCAA`	4	--	ds500¹ int¹		0	--	--	--	--
rs115531155^1,2		--	299244(+)	`AGCACG/ACATGG`	4	--	ut3¹		1		WA	118
rs190957256^1,2		--	299271(+)	`ACTTGA/TTAACT`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SLC6A12 (299243 - 323736 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for SLC6A12
3 CNVs: 49010 29611 35066
1 Indel: 101392
Human Gene Mutation Database (HGMD): SLC6A12

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SLC6A12 for disorders           About GeneDecksing

OMIM gene information: 603080    OMIM disorders: --

8 diseases for SLC6A12:    About MalaCards

kidney disease seizures astrocytoma asthma

cerebritis schizophrenia hepatitis neuronitis

Human Genome Epidemiology (HuGE) Navigator: SLC6A12 (5 documents)

Export disorders for SLC6A12 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 SLC6A12 gene, integrated from 9 sources (see all 70):
(articles sorted by number of sources associating them with SLC6A12)

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

Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. (PubMed id 7589472)^{1, 2, 3, 9} Rasola A.... Bagnasco S. (1995)
Cloning and expression of a betaine/GABA transporter from human brain. (PubMed id 7861179)^{1, 2, 9} Borden L.A....Weinshank R.L. (1995)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Up-regulation of the betaine/GABA transporter BGT1 by JAK2. (PubMed id 22405821)¹ Hosseinzadeh Z....Lang F. (2012)
Association between the SLC6A12 gene and negative sym ptoms of schizophrenia in a Korean population. (PubMed id 21367462)¹ Park H.J....Song J.Y. (2011)
Association of SLC6A12 variants with aspirin-intolera nt asthma in a Korean population. (PubMed id 20597903)¹ Pasaje C.F....Shin H.D. (2010)
New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)¹ KAPttgen A....Fox C.S. (2010)
L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)¹ Yokoyama K....Hosoya T. (2010)
Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)¹ Chapuis J....Lambert J.C. (2009)
Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)¹ GratacA^s M....Carracedo A. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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: 6539	HGNC: 11045	AceView: SLC6A12	Ensembl:ENSG00000111181	euGenes: HUgn6539
ECgene: SLC6A12	H-InvDB: SLC6A12

(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 SLC6A12	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC6A12 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 SLC6A12 gene:
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GeneCards and IP:
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