TSPAN12

TSPAN12
Identifiers
Aliases	TSPAN12, EVR5, NET-2, NET2, TM4SF12, tetraspanin 12
External IDs	OMIM: 613138; MGI: 1889818; HomoloGene: 8212; GeneCards: TSPAN12; OMA:TSPAN12 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q31.31 Start 120,787,320 bp[1] End 120,858,402 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 A3.1 Start 21,771,394 bp[2] End 21,852,514 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte kidney tubule secondary oocyte right adrenal gland right ventricle lower lobe of lung jejunal mucosa glomerulus metanephric glomerulus left adrenal gland Top expressed in brown adipose tissue parotid gland submandibular gland tunica adventitia of aorta white adipose tissue intercostal muscle female external genitalia liver adrenal gland mucosa of urinary bladder More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Wnt-activated receptor activity Cellular component membrane plasma membrane integral component of membrane integral component of plasma membrane Biological process angiogenesis retina layer formation regulation of angiogenesis cell surface receptor signaling pathway Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23554 269831 Ensembl ENSG00000106025 ENSMUSG00000029669 UniProt O95859 Q8BKT6 RefSeq (mRNA) NM_012338 NM_173007 NM_001363814 RefSeq (protein) NP_036470 NP_766595 NP_001350743 Location (UCSC) Chr 7: 120.79 – 120.86 Mb Chr 6: 21.77 – 21.85 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Tetraspanin-12 (Tspan-12) also known as tetraspan NET-2 (NET2) or transmembrane 4 superfamily member 12 (TM4SF12) is a tetraspanin protein that in humans is encoded by the TSPAN12 gene. Tetraspanin-12 is found in the membrane of a variety of cells. It has an unusually long C-terminal intracellular tail of approximately 60 amino acids.

Function

Its main binding partner is the ADAM10 protein,^[5] a sheddase that interacts with a variety of adhesion molecules that are found on the cell membrane including L1-CAM, E-Cadherin, N-Cadherin and CD44.^[6][7] It also binds to the MT1-MMP metalloprotease protein that is closely related to ADAM10 but has a minimal effect on promotion of expression and function.^[8] TSPAN12 also seems to regulate vascular development, as shown by a study involving TSPAN12 knockout mice.^[9] TSPAN12 is a significant contributor to primary and metastatic cancer and is responsible for protecting β-catenin from degradation.^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000106025 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029669 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Xu D, Sharma C, Hemler ME (November 2009). "Tetraspanin12 regulates ADAM10-dependent cleavage of amyloid precursor protein". FASEB J. 23 (11): 3674–81. doi:10.1096/fj.09-133462. PMC 2775005. PMID 19587294.
6. Lee SB, Schramme A, Doberstein K, Dummer R, Abdel-Bakky MS, Keller S, Altevogt P, Oh ST, Reichrath J, Oxmann D, Pfeilschifter J, Mihic-Probst D, Gutwein P (March 2010). "ADAM10 is upregulated in melanoma metastasis compared with primary melanoma". J. Invest. Dermatol. 130 (3): 763–73. doi:10.1038/jid.2009.335. PMID 19865098.
7. Anderegg U, Eichenberg T, Parthaune T, Haiduk C, Saalbach A, Milkova L, Ludwig A, Grosche J, Averbeck M, Gebhardt C, Voelcker V, Sleeman JP, Simon JC (June 2009). "ADAM10 is the constitutive functional sheddase of CD44 in human melanoma cells". J. Invest. Dermatol. 129 (6): 1471–82. doi:10.1038/jid.2008.323. PMID 18971959.
8. Lafleur MA, Xu D, Hemler ME (April 2009). "Tetraspanin proteins regulate membrane type-1 matrix metalloproteinase-dependent pericellular proteolysis". Mol. Biol. Cell. 20 (7): 2030–40. doi:10.1091/mbc.E08-11-1149. PMC 2663921. PMID 19211836.
9. Junge HJ, Yang S, Burton JB, Paes K, Shu X, French DM, Costa M, Rice DS, Ye W (October 2009). "TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling". Cell. 139 (2): 299–311. doi:10.1016/j.cell.2009.07.048. PMID 19837033. S2CID 2276711.
10. Knoblich K, Wang HX, Sharma C, Fletcher AL, Turley SJ, Hemler ME (April 2014). "Tetraspanin TSPAN12 regulates tumor growth and metastasis and inhibits β-catenin degradation". Cell Mol Life Sci. 71 (7): 1305–14. doi:10.1007/s00018-013-1444-8. PMC 11113286. PMID 23955570. S2CID 16135992.

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant