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FLASH GENE

Symbol

SLC7A2

contributors: mct/npt/pgu - updated : 31-10-2013

HGNC name	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
HGNC id	11060

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8p22      Physical location : 17.354.596 - 17.428.073
Synonym name	amino acid transporter, cationic 2
	low-affinity cationic amino acid transporter-2
Synonym symbol(s)	ATRC2, HCAT2, CAT-2, CTR2

DNA

TYPE	functioning gene
STRUCTURE	73.48 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003046 12 - 7577 NP_003037 76 697 - 2008 1836947 CAT-2A NM_001008539 12 - 7584 NP_001008539 72 658 - 2008 1836947 CAT-2B NM_001164771 12 - 7580 NP_001158243 76 697 - 2008 1836947

EXPRESSION

Type

widely

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         Nervous brain diencephalon hypothalamus   highly Homo sapiens   brain forebrain cerebral cortex     Homo sapiens   brain basal nuclei caudate nucleus     Homo sapiens   plexus choroid         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens Endocrine islet cell (alpha,beta...) Nervous astrocyte Homo sapiens Nervous neuron Homo sapiens Nervous oligodendrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

spleen

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve transmembrane segments
	cytoplasmic N and C termini

HOMOLOGY

interspecies

homolog to murine Slc7a2

Homologene

FAMILY	amino acid-polyamine-organocation (APC) superfamily
	cationic amino acid transporter (CAT) family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	SLC7A1 mediated L-arginine influx, is essential for both inducible nitric oxide synthase and arginase enzyme activities, which in turn modulate proliferation and differentiation of human epidermal skin cells
	via arginine transport, plays a critical regulatory role in classical or alternative activation of macrophages
	by controlling NOS2 and arginase activity, functions as a potent regulator of immunity
	is a regulator of fibrotic responses in the lung
	is an important regulator of the immune response during H. pylori infection

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

PATHWAY

metabolism

aminoacid

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with FRAP1 (FRAP1 activity is associated with the repression of SLC7A2 expression at mRNA and protein level)
	DDAH1 and L-arginine are substrates of human SLC7A2, SLC22A2, SLC47A1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism SNP	a single-nucleotide variation in the first intron of the SLC7A2 gene (IVS1-1713 A > G) associated to infantile encephalopathy with severe infantile anorexia

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Cat2(-/-) mice are significantly more susceptible to the Th1-inducing pathogen Toxoplasma gondii