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FLASH GENE

Symbol

TSPAN12

contributors: shn/npt - updated : 05-04-2011

HGNC name	tetraspanin 12
HGNC id	21641

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EVR5 familial exudative vitreoretinopathy 5
Location	7q31.31      Physical location : 120.427.375 - 120.498.177
Synonym name	tetraspan NET-2
	transmembrane 4 superfamily member 12
	tetraspanin-12
	tspan-12
Synonym symbol(s)	NET-2, TM4SF12, Tspan-12

DNA

TYPE	functioning gene
STRUCTURE	70.80 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cent - D7S655 - D7S2487 - TSPAN12 - D7S643 - D7S480 - qter

RNA

TRANSCRIPTS	type	messenger

text	exons 2–8 are protein coding, plus an alternative noncoding exon for a different isoform (Nikopoulos 2010)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012338 8 - 2579 NP_036470 35 305 expressed in the retinal vasculature Junge et al, 2009

EXPRESSION

Type	restricted

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 Visual eye retina     predominantly

cell lineage
cell lines	myeloid (HEL, K562), lymphoid (NALM-6, HOON, DAUDI, RAJI, OCI-LY8, JURKAT, MOLT4) cell lines, cervical, lung, squamous, colon, breast carcinomas, postradic lung fibroblast and fibrosarcoma
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains

four predicted transmembrane (TM) domains

mono polymer

homomer , heteromer , dimer , complex

HOMOLOGY

interspecies	ortholog to Tspan12, Mus musculus
	ortholog to Tspan12, Rattus norvegicus
	ortholog to tspan12, Danio rerio
	ortholog to TSPAN12, Pan troglodytes

Homologene

FAMILY

tetraspanin family or transmembrane 4 superfamily

CATEGORY

adhesion , signaling

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	mediating signal transduction
	may be playing a role in interconnecting several cell surfaces molecules
	regulating integrin-dependent cell migration
	genetically interacts with Lrp5 or Norrin in the regulation of intraretinal capillary development (Junge et al, 2009)
	required for retinal vascular development and norrin/beta-catenin signaling in retinal endothelial cells (Junge et al, 2009)
	implicated in regulating the development of retinal vasculature (Nikopoulos 2010)
	regulate retinal vascular development in cooperation with the proteins encoded by FZD4, LRP5, and NDP (Nikopoulos 2010)

CELLULAR PROCESS	cell life, proliferation/growth
	cell communication
	cell migration & motility

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

FZD4, LRP5, and TSPAN12 are component of the Norrin-FZD4 complex

INTERACTION

DNA

RNA

small molecule

protein	specifically regulates Norrin/beta-catenin signaling by modulating FZD4 multimerization (Junge et al, 2009)
	a component of the norrin-neceptor complex and the FZD4-receptor complex (Junge et al, 2009)
	binds to Fz4 and enhances Norrin/Fz4/Lrp5 signaling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EVR5

Susceptibility

Variant & Polymorphism

Candidate gene	for familial exudative vitreoretinopathy (FEVR) (Junge et al, 2009)
Marker
Therapy target

ANIMAL & CELL MODELS

Tspan12-/- mice are viable and fertile but display retinal vascular defects (Junge et al, 2009)