InnateDB Protein
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IDBP-38102.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TSPAN12
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Protein Name
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tetraspanin 12
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Synonyms
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EVR5; NET-2; NET2; TM4SF12;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000222747
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InnateDB Gene
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IDBG-38100 (TSPAN12)
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Protein Structure
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Function |
Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity. {ECO:0000250, ECO:0000269PubMed:19211836, ECO:0000269PubMed:19587294}.
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Subcellular Localization |
Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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Disease Associations |
Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269PubMed:20159111, ECO:0000269PubMed:20159112, ECO:0000269PubMed:22427576}. Note=The disease is caused by mutations affecting the gene represented in this entry. TSPAN12 dominant and recessive mutations have been identified in patients with exudative vitreoretinopathy. Patients with mutations in both alleles of TSPAN12 have severe exudative vitreoretinopathy or retinal dysplasia. These mutations appear to result in a milder phenotype in heterozygous mutation carriers (PubMed:22427576). {ECO:0000269PubMed:22427576}.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
0
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000301
Tetraspanin
IPR008952
Tetraspanin, EC2 domain
IPR018499
Tetraspanin/Peripherin
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PFAM |
PF00335
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PRINTS |
PR00259
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PIRSF |
PIRSF002419
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O95859
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PhosphoSite |
PhosphoSite-O95859
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TrEMBL |
C9JQM0
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UniProt Splice Variant |
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Entrez Gene |
23554
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UniGene |
Hs.733342
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RefSeq |
NP_036470
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HUGO |
HGNC:21641
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OMIM |
613138
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CCDS |
CCDS5777
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HPRD |
15509
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IMGT |
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EMBL |
AC004456
AF124522
AK299247
AK312239
AY358703
BC031265
CH236947
CH471070
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GenPept |
AAD17317
AAH31265
AAQ89066
AAQ96879
BAG35172
BAG61278
EAL24349
EAW83543
EAW83544
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