Recombinant Human Tetraspanin-12 (TSPAN12)

1. This is the first study to report a group of patients with digenic familial exudative vitreoretinopathy (FEVR). In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR is more severe in patients with digenic rather than monogenic variants of FEVR-related genes. PMID: 30097784
2. We identified two novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del] using targeted NGS as a causative mutation for Familial exudative vitreoretinopathy (FEVR). PMID: 28867931
3. The screening of candidate genes namely NDP, FZD4 and TSPAN12 led to the identification of six major coding region variants in 36 ROP probands. PMID: 28982955
4. The novel variant p.Cys189Arg in TSPAN12 was not identified in the affected 14-year-old daughter. Thus, we conclude that the heterozygous FZD4 missense variant c.349T>C most likely represents a causative dominant mutation in this family with FEVR. PMID: 28211206
5. Probands with LRP5 or NDP mutations were mainly categorized into group III and IV, TSPAN12 mutations were mainly observed in probands with group IV and V FEVR. PMID: 29181528
6. Among the detected mutations, LRP5 accounted for the largest proportion with a mean mutation rate of 16.1% (5/31, 16.1%), followed by NDP (3/31, 9.7%), FZD4 (2/31, 6.5%), TSPAN12 (1/31, 3.2%), and KIF11 (1/31, 3.2%). All the novel changes were predicted to be pathogenic by a series of bioinformatics analyses. PMID: 28494495
7. FEVR-associated genes contributing to the disorder's autosomal dominant inheritance pattern in Korea, we determined that patients with TSPAN12 large deletions were more common than patients with single nucleotide variants in TSPAN12. PMID: 28002565
8. TSPAN12 promotes chemoresistance and proliferation of small cell lung carcinoma under the regulation of miR-495. PMID: 28302484
9. Several novel mutations (missense, non-stop and insertion) were detected in the coding regions of FZD4, TSPAN12 and ZNF408 genes among the unrelated vitreoretinopathy probands.The mutations in FZD4 and TSPAN12 were involved in autosomal dominant and autosomal recessive families and further validates the involvement of these gene in familial exudative vitreoretinopathy development. PMID: 27316669
10. The authors report a case of familial exudative vitreoretinopathy in the spectrum of osteoporosis pseudoglioma syndrome associated with novel mutations of the LRP5 and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature. PMID: 27007396
11. Among the patients with pathogenic mutations detected, FZD4 mutations accounted for the largest proportion of autosomal inheritance FEVR cases (13/18 patients, 72.2%), followed by LRP5 (4/18 patients, 22.2%) and TSPAN12 (1/18 patients, 5.6%). PMID: 26244290
12. Here we describe a case of a female infant affected by cystic fibrosis and by a severe form of exudative vitreoretinopathy. In particular, we have detected the homozygous missense mutation c.668 T > C in TSPAN12. PMID: 23834558
13. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability. PMID: 25250762
14. Novel mutations have been described in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. PMID: 25352738
15. These results suggest that stroma-derived p53 plays a pivotal role in epithelial cancer progression and that TSPAN12 and CXCL6 are potential targets for lung cancer therapy. PMID: 25512506
16. TSPAN12 plays a role in supporting primary tumor growth and suppressing metastasis. PMID: 23955570
17. This study is the first report of recessive mutations in TSPAN12 and shows that patients with two mutant alleles have a severe form of FEVR or retinal dysplasia, whereas heterozygous family members have mild familial exudative vitreoretinopathy phenotypes PMID: 22427576
18. The largest miRNA-146a-TSPAN12 response to stress of amyloidbeta peptide + tumor necrosis factoralpha is found in human neuronal glial cells from Alzheimer brain. PMID: 21640790
19. We speculate that haploinsufficiency of TSPAN12 contributes to PHPV. PMID: 21626674
20. TSPAN12 mutations are responsible for familial exudative vitreoretinopathy (FEVR). The phenotypes associated with TSPAN12 mutations showed great variations between different individuals within a family and between the two eyes in individual patients. PMID: 21552475
21. The results provide further evidence that mutations in TSPAN12 are familial exudative vitreoretinopathy (FEVR) causing and that the gene products most likely play a role in the development of retinal vessels. PMID: 21334594
22. TSPAN12 promotes Norrin/Frizzled-4 signaling during retinal vascularization. PMID: 19837033
23. Sequence analysis of TSPAN12 revealed two mutations segregating in five of 11 familial exudative vitreoretinopathy families (FEVR), indicating that mutations in TSPAN12 are a relatively frequent cause of FEVR. PMID: 20159111
24. Mutations in TSPAN12 also cause autosomal-dominant familial exudative vitreoretinopathy. PMID: 20159112
25. TSPAN12 serves as a novel and robust partner for ADAM10 and promotes ADAM10 maturation, thereby facilitating ADAM10-dependent proteolysis of APP. PMID: 19587294

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HGNC: 21641

OMIM: 613138

KEGG: hsa:23554

STRING: 9606.ENSP00000222747

UniGene: Hs.16529