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We found only one other report of an optic nerve coloboma associated with SPINT2 mutations and this occurred in a patient with congenital tufting enteropathy. Our patient confirms an association of ocular coloboma with presumed loss of SPINT2 function.
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The expression of SPINT2 gene is regulated by its methylation status, and the methylation status of SPINT2 is altered by HPV infection. The aberrant methylation status of SPINT2 gene may play an important role in the development of cervical cancer.
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aberrant methylation of the SPINT2 gene is frequently observed in high-grade gliomas and might confer MET signaling in the glioma cells.
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finding of only one heterozygous SPINT2 mutation in 19 patients with isolated CA/GA was not statistically significant
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In this work, KLK14 binding to either hepatocyte growth factor activator inhibitor type-1 (HAI-1) or type-2 (HAI-2) was essayed using homology modeling, molecular dynamic simulations and free-energy calculations through MM/PBSA and MM/GBSA. KLK14 was successfully modeled.
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limited role for HAI-2 in the inhibition of matriptase and prostasin is the result of its primarily intracellular localization in basal and spinous layer keratinocytes, which probably prevents the Kunitz inhibitor from interacting with active prostasin or matriptase
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that the HAI-2 Kunitz domain 1 mutants influence the flux of matriptase to the plasma membrane by affecting the oligomerization, maturation and/or folding of matriptase
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Our data indicate that hypoxic inhibition of JMJD3 activity reduces demethylation of H3K27me3, nucleosome removal, and hence induction of the STAT6 target gene CCL18, while induction of other STAT6-inducible genes such as SPINT2 remained unaffected by JMJD3.
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Concomitant presence of TMPRSS13 with HAI-2 mediates phosphorylation of residues in the intracellular domain of the protease, and it coincides with efficient transport of the protease to the cell surface and its subsequent shedding.
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This study presented a molecular characterization of congenital tufting enteropathy Italian patients, and identified one mutation in the SPINT2 gene
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study the methylation status of the promoter region of Serine peptidase inhibitor/hepatocyte growth factor activator inhibitor type 2 (SPINT2/HAI-2)
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It suggests an involvement of SPINT2 in PCa tumorigenesis, probably in association with a post-translational regulation of SPINT2.
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N-glycan branching regulates HAI-2 through different subcellular distribution and subsequently access to different target proteases
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Matriptase inhibition by HAI-2 requires the translocation of HAI-2 to the cell surface, a process which is observed in some breast cancer cells but not in mammary epithelial cells.
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Epigenetic silencing of SPINT2 promotes cancer cell motility in malignant melanoma.
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a missense mutation in the serine protease inhibitor SPINT2 may have a role in congenital sodium diarrhea
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results suggest that the SPINT2 underexpression in the MSC from MDS patients is probably involved in the adhesion of progenitors to the bone marrow niche, through an increased HGF and SDF-1 signaling pathway.
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The role of hepatocyte growth factor activator inhibitor-2 (HAI-2) in prostate cancer cell migration, invasion, tumorigenicity and metastasis.
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The tumor suppressor gene SPINT2 is commonly silenced by promoter hypermethylation in human esophageal squamous cell carcinoma and SPINT2 hypermethylation is correlated with poor overall survival.
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established SPINT2 as a second gene associated with congenital tufting enteropathy
