Property Summary

NCBI Gene PubMed Count 25
Grant Count 11
R01 Count 11
Funding $803,524.32
PubMed Score 16.26
PubTator Score 74.82

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
interstitial lung disease -1.700 0.005
malignant mesothelioma -1.600 0.000
astrocytic glioma 2.500 0.004
oligodendroglioma 2.000 0.000
glioblastoma multiforme 1.800 0.000
medulloblastoma, large-cell -1.100 0.012
non-small cell lung cancer -2.372 0.000
colon cancer 1.700 0.022
interstitial cystitis -1.900 0.002
lung adenocarcinoma -2.000 0.000
adult high grade glioma 2.100 0.000
pilocytic astrocytoma 1.700 0.000
sonic hedgehog group medulloblastoma 1.100 0.039
lung carcinoma -1.400 0.000
Breast cancer -2.000 0.000
ovarian cancer 1.800 0.000
pituitary cancer -2.800 0.000

Gene RIF (16)

PMID Text
26244290 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%).
25512506 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.
25352738 Novel mutations have been described in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
25250762 Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.
23955570 TSPAN12 plays a role in supporting primary tumor growth and suppressing metastasis.
23834558 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.
22427576 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
21640790 The largest miRNA-146a-TSPAN12 response to stress of amyloidbeta peptide + tumor necrosis factoralpha is found in human neuronal glial cells from Alzheimer brain.
21626674 We speculate that haploinsufficiency of TSPAN12 contributes to PHPV.
21552475 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.
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AA Sequence

MAREDSVKCLRCLLYALNLLFWLMSISVLAVSAWMRDYLNNVLTLTAETRVEEAVILTYFPVVHPVMIAV      1 - 70
CCFLIIVGMLGYCGTVKRNLLLLAWYFGSLLVIFCVELACGVWTYEQELMVPVQWSDMVTLKARMTNYGL     71 - 140
PRYRWLTHAWNFFQREFKCCGVVYFTDWLEMTEMDWPPDSCCVREFPGCSKQAHQEDLSDLYQEGCGKKM    141 - 210
YSFLRGTKQLQVLRFLGISIGVTQILAMILTITLLWALYYDRREPGTDQMMSLKNDNSQHLSCPSVELLK    211 - 280
PSLSRIFEHTSMANSFNTHFEMEEL                                                 281 - 305
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Text Mined References (27)

PMID Year Title
26244290 2015 Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.
25512506 2014 TSPAN12 is a critical factor for cancer-fibroblast cell contact-mediated cancer invasion.
25416956 2014 A proteome-scale map of the human interactome network.
25352738 2014 Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
25250762 2014 Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.
23955570 2014 Tetraspanin TSPAN12 regulates tumor growth and metastasis and inhibits ?-catenin degradation.
23834558 2014 Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant.
22427576 2012 Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
21640790 2011 Differential expression of miRNA-146a-regulated inflammatory genes in human primary neural, astroglial and microglial cells.
21626674 2011 Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
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