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FLASH GENE

Symbol

SLC22A18

contributors: SGE/npt - updated : 24-04-2009

HGNC name	solute carrier family 22, member 18
HGNC id	10964

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BWS Beckwith-Wiedemann syndrome
Location	11p15.5      Physical location : 2.920.950 - 2.946.475
Synonym name	imprinted multi-membrane-spanning polyspecific transporter gene 1
	Beckwith-Wiedemann syndrome chromosome region 1, candidate a
	solute carrier family 22 (organic cation transporter), member 18
	solute carrier family 22 (organic cation transporter), member 1-like
	tumor-suppressing subchromosomal transferable fragment cDNA 5
	efflux transporter-like protein
	p45 Beckwith-Wiedemann region 1A
Synonym symbol(s)	ORCTL2, IMPT1, STF, TSSC5, BWSCR1A, SLC22A1L, BWR1A, HET

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head, opposite orientation
STRUCTURE	25.53 kb     11 Exon(s)

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site   transcription factor
text structure	two Sp1 binding sites

MAPPING

cloned

Y

linked

status

provisional

Map	pter - ASCL2 - CD81 - KCNQ1 - CDKN1C - SLC22A18 /SLC22A18AS - PHLDA2 - NAP1L4 - cen
Authors	Dao (98)

regionally located

located in the Beckwith-Wiedemann imprinted domain,17kb centromeric to p57(KIP2) and 3kb telomeric to TSSC3, centromeric imprinting domain at 11p15.5

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 11 - 1580 44.7 424 - Akiyama variant 2 11 - 1563 44.7 424 - Akiyama

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 Digestive intestine large intestine colon   highly   liver       highly Endocrine pancreas       highly Skin/Tegument skin       highly Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	kidney, liver

IMPRINTING	paternally
text	relative repression of paternal allele, paternally suppressed in fetal samples, as SLC22A18AS is also paternally suppressed in fetal samples

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ten transmembrane domains
	three A-C motifs specific for family I transporters

HOMOLOGY

interspecies

ortholog to murine Slc22a1l

Homologene

FAMILY	solute carrier family 22, organic cation
	polyspecific transporter/multidrug resistance gene family

CATEGORY

tumor suppressor , transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	polyspecific transporter for organic cation, sodium independent
	inducing tumor cell growth arrest
	tumor suppressing subchromosomal transferable for chloroquine and quinidine-related compounds
	polyspecific transmembrane transporter involved in
	tetracycline transport

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , excretion

text	embryonic development small molecule transport

PATHWAY

metabolism

signaling

a component

putative protein constituent of membrane

INTERACTION

DNA

RNA

small molecule

protein

target of UBE2E1-RNF167 complex (define a novel ubiquitin-proteasome pathway)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BWS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     LOH in lung cancer and in embryonal tumors tumoral     --low   in hepatoblastoma tumoral imprinting       gain of imprinting (GOI) in 18p100 for SLC22A18 and 14p100 for SLC22A18AS, in breast cancer, GOI in hepatocarcinomas

Susceptibility

Wilms'tumor, rhabdomyosarcoma (OMIM268210) and hepatoblastoma

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS