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FLASH GENE

Symbol

SLC6A18

contributors: mct - updated : 03-05-2010

HGNC name	solute carrier family 6, member 18
HGNC id	26441

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5p15.33      Physical location : 1.225.469 - 1.246.303
Synonym name	solute carrier family 6 (neurotransmitter transporter), member 18
	system B(0) neutral amino acid transporter AT3
	sodium- and chloride-dependent transporter XTRP2
	sodium-dependent neutral amino acid transporter B(O)AT3
	sodium channel-like protein
Synonym symbol(s)	XTRP2, FLJ31236, B(0)AT3

DNA

TYPE	functioning gene
STRUCTURE	20.84 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_182632 12 - 2141 NP_872438 - 628 - Höglund (2005)

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 intestine large intestine colon     Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to murine Slc6a18 (82.4pc)
	homolog to rattus Slc6a18 (82.5pc)

Homologene

FAMILY

sodium:neurotransmitter symporter (SNF) family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	having neurotransmitter/sodium symporter activity
	functioning as a sodium and chloride-dependent neutral amino acid transporter

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associating with TMEM27 for functional expression in kidney
	SLC6A18, SLC6A19 associate with members of the renin-angiotensin system (RAS), namely TMEM27 and angiotensin-converting enzyme 2 (ACE2), in a tissue specific manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism other	monoallelic or biallelic variants might contribute to the iminoglycinuria or hyperglycinuria phenotypes (Broer 2008)
	five polymorphic minisatellites and three monomorphic minisatellites VNTRs (Yoon 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS