TSPAN12

Tetraspanin 12
Identifiers
Symbols	TSPAN12 ; EVR5; NET-2; NET2; TM4SF12
External IDs	OMIM: 613138 HomoloGene: 8212 GeneCards: TSPAN12 Gene
Gene ontology Molecular function • protein binding • Wnt-activated receptor activity Cellular component • integral component of plasma membrane • membrane • integral component of membrane Biological process • angiogenesis • cell surface receptor signaling pathway • retina layer formation • regulation of angiogenesis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23554	269831
Ensembl	ENSG00000106025	ENSMUSG00000029669
UniProt	O95859	Q8BKT6
RefSeq (mRNA)	NM_012338	NM_173007
RefSeq (protein)	NP_036470	NP_766595
Location (UCSC)	Chr 7: 120.79 – 120.86 Mb	Chr 6: 21.77 – 21.85 Mb
PubMed search	[1]	[2]

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, 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. 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. TSPAN12 also seems to regulate vascular development, as shown by a study involving TSPAN12 knockout mice. TSPAN12 is a significant contributor to primary and metastatic cancer and is responsible for protecting β-catenin from degradation.

External links

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