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FLASH GENE

Symbol

SLC6A12

contributors: mct - updated : 23-10-2013

HGNC name	solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12
HGNC id	11045

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	24.50 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001206931 15 - 3177 NP_001193860 - 614 - - NM_001122848 16 - 3270 NP_001116320 - 614 - - NM_001122847 16 - 3165 NP_001116319 - 614 - - NM_003044 17 - 3500 NP_003035 - 614 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       predominantly Homo sapiens Nervous brain         Reproductive male system testis       Urinary kidney renal medulla       Homo sapiens   kidney tubule Henles loop     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	12 transmembrane segments
	cytoplasmic N and C termini

HOMOLOGY

Homologene

FAMILY

solute carrier family 6, neurotransmitter, betaine/GABA

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	Na+ (and Cl-) dependent plasma membrane, neurotransmitter transporter
	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
	plays its main role in the liver, thereby complementing other betaine-transporting carrier proteins (SLC6A20) that are predominantly expressed in the small intestine or kidney rather than the liver

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	AMPK is a powerful regulator of the organic osmolyte transporters SLC5A3 and SLC6A12 and thus interacts with cell volume regulation
	JAK2 is a novel regulator of the GABA transporter SLC6A12 (the kinase up-regulates the carrier presumably by enhancing the insertion of carrier protein into the cell membrane)

cell & other

REGULATION

activated by	tonicity responsive enhancers (TONE1-TONE2),located in the 5'flanking region of the gene
	JAK2, that up-regulates the GABA transporter BGT1 (SLC6A12)

inhibited by

can be inhibited acutely by extracellular Ca(2+) through a mechanism involving SLC6A12 internalization, and protein kinase C may play a role

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   mRNA expression is altered by status epilepticus and displays a temporal pattern with similarities to both GABA and osmolyte transporters

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Bgt1-deficient and wild-type mice appeared to tolerate the salt treatment equally well, possibly because betaine is one of several osmolytes