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FLASH GENE

Symbol

SLC44A2

contributors: mct/npt - updated : 19-04-2010

HGNC name	solute carrier family 44, member 2
HGNC id	17292

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020428 22 - 3434 NP_065161 - 706 - Greinacher (2010) NM_001145056 22 - 3375 NP_001138528 80 704 - Traiffort (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 Hearing/Equilibrium ear inner       Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ten transmembrane domains
	11 highly conserved cysteines

HOMOLOGY

intraspecies

homolog to CTL1, CTL4

Homologene

FAMILY

choline transporter-like (CTL) family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

multi-transmembrane protein expressed on inner ear supporting cells that was discovered as a target of antibody-induced hearing loss (Kommareddi 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to transfusion-related acute lung injury to Venous thromboembolism (VTE)

Variant & Polymorphism SNP	in exon 7 of SLC44A2 that predicts an amino acid substitution in the first extracellular loop of SLC44A2, correlated perfectly with HNA-3a/b phenotypes (R154 encodes HNA-3a; Q154 encodes HNA-3b) leading to to transfusion-related acute lung injury (Curtis 2010)
	association for SLC44A2 rs2288904 with Venous thromboembolism (VTE)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS