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FLASH GENE

Symbol

SLC36A2

contributors: SGE/npt - updated : 06-05-2010

HGNC name	solute carrier family 36 (proton/amino acid symporter), member 2
HGNC id	18762

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GCNU1 hyperglycinuria, type 1
Location	5q33.1      Physical location : 150.694.539 - 150.727.151
Synonym name	tramdorin
	proton/amino acid transporter 2
	proton-coupled amino acid transporter 2
Synonym symbol(s)	PAT2, TRAMD1, FLJ16051, MGC119658, MGC119660

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	32.61 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - FAT2 - SLC36A1 - SLC36A2 SLC36A2 - SLC36A3 - GM2A GM2A - qter
Authors	Boll (03)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_181776 10 - 3439 NP_861441 - 483 - Boll (2003)

EXPRESSION

Type	restricted

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 Cardiovascular heart         Lymphoid/Immune spleen         Nervous brain limbic system hippocampus       brain hindbrain cerebellum       spinal cord anterior horn       Urinary kidney tubule convoluted tubule proximal tubule highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Connective bone       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	11 transmembrane domains
	several N glycosylation site
	three conserved histidine residues critical for proton binding

HOMOLOGY

interspecies	homolog to murine Slc36a2 (82.2pc)
	homolog to rattus Slc36a2 (81.5pc)

intraspecies

paralog to SLC36A1

Homologene

FAMILY	amino acid/auxin permease family
	amino acid/polyamine transporter 2 family

CATEGORY

transport carrier

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

basic FUNCTION	having amino acid-polyamine transporter activity
	contributing to neuronal transport and sequestration of amino acids such as glycine, alanine, and/or proline, whereby the transport direction is dependent on the sum of the driving forces such as substrate concentration, pH gradient, and membrane potential
	acting as an electrogenic proton/amino acid symporter
	in renal proximal tubule functions in the reabsorption of glycine, proline and hydroxyproline

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

SLC36A2 also transports amino acid derivatives but has a narrower substrate selectivity and higher affinity (K(m) 0.1-0.7 mM) than SLC36A1

cell & other

REGULATION

inhibited by

sarcosine

ASSOCIATED DISORDERS

corresponding disease(s)

GCNU1

Susceptibility

Variant & Polymorphism

Candidate gene	candidate gene for 5q-myelodysplastic syndrome
Marker
Therapy target

ANIMAL & CELL MODELS