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FLASH GENE

Symbol

SLC22A5

contributors: mct/shn - updated : 17-06-2010

HGNC name	solute carrier family 22 (organic cation/carnitine transporter), member 5
HGNC id	10969

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	25.91 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D5S2057 - D5S1984 - SLC22A5 - D5S2002 - D5S2497 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003060 10 - 3295 NP_003051 70 557 expression in human corneal and conjunctival epithelial cells 2008 18641280

EXPRESSION

Type	ubiquitous

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       highly Homo sapiens Digestive intestine       highly Homo sapiens   liver       highly Homo sapiens Endocrine adrenal gland       lowly   pancreas       highly Hearing/Equilibrium ear       highly Lymphoid/Immune thymus       moderately Nervous brain       highly Homo sapiens   spinal cord       moderately Reproductive female system placenta     highly   female system uterus cervix   highly   male system prostate     lowly   male system testis     lowly Respiratory lung       lowly   respiratory tract trachea     moderately   respiratory tract larynx     highly Urinary kidney       highly Homo sapiens Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal   highly Homo sapiens Nervous central

cell lineage	OCTN2 mRNA expression was detected in cultured human corneal-limbal epithelial (HCLE) and human conjunctival epithelial (HCjE) cells of rabbits and humans
cell lines	expressed in CD68 macrophage and CD43 T-cells
	expressed in PG362, A549, SW480, Raji, MOLT-4, K-562, Hela and HL-60 cancer lines cells
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	kidney, liver, lung, brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve transmembrane domains (12TM)
	cytoplasmic N and C termini
	one nucleotide (ATP/GTP) binding site motif

HOMOLOGY

interspecies	ortholog to Slc22a5, Mus musculus
	ortholog to Slc22a5, Rattus norvegicus

intraspecies

homolog to OCTN1

Homologene

FAMILY

solute carrier family 22, organic cation, sugar transporter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	localization at the basolateral membrane and in the cytoplasmic region in the vicinity of nuclei (suggesting that carnitine can be also transported from the brain, playing an important role in removal of certain acyl esters)

basic FUNCTION	polyspecific transporter of organic cations, sodium ion dependent
	high affinity carnitine transporter plasmalemmal, involved in the active cellular uptake of carnitine
	can contribute to the cardiac uptake of cardiovascular drugs
	may be playing a significant role in transport of carnitine in occular tissues and an intrinsic homeostatic role for carnitine in eye
	may mediate most maternofetal carnitine transport in humans
	transporter that is thought to be responsible for the accumulation of L-carnitine in the epididymal lumen, is regulated in response to changes in tonicity
	involved in the transport of acetyl-L-carnitine from the circulating blood to the retina across the inner blood-retinal barrier
	most important carnitine transporter
	can contribute to intestinal carnitine absorption and systemic carnitine homeostasis
	assumed to transport carnitine into skeletal muscle cells
	could be responsible for the regulation of carnitine uptake during muscle contraction
	redistributed from an intracellular location to the surface of the muscle, indicating that it is translocated in contracting skeletal muscle to upregulate carnitine uptake in skeletal muscle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

PDZ domain containing 1 , PDZK1

cell & other

REGULATION

Other	regulated by PDZ domain containing 1 , PDZK1
	regulated by PPARG (PPARG agonists thiazolidinediones increased both mRNA and protein expression in colonic epithelial cell lines independently by PPARA expression)

ASSOCIATED DISORDERS

corresponding disease(s)

CDSP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation deletion   loss of function - constitutional somatic mutation insertion   loss of function -

Susceptibility

to Crohn disease(see IBD5)

Variant & Polymorphism other	G>C transversion in the promoter increasing the susceptibility to Crohn disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	a missense mutation in the gene in jvs mice abrogated carnitine transport
	Octn2 -/- mice developed enlarged fatty liver, steatosis of other organs, and hypertrophic cardiomyopathy, intestinal villous atrophy and intestinal breakdown and inflammation with intense lymphocyte and macrophage infiltration, leading to ulcer formation and gut perforation