Property Summary

NCBI Gene PubMed Count 33
Grant Count 4
Funding $60,441
PubMed Score 47.39
PubTator Score 46.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma -6.000 0.000
psoriasis 1.100 0.000
cystic fibrosis 1.620 0.000
Atopic dermatitis -2.800 0.000
non-small cell lung cancer 1.009 0.000
ulcerative colitis 5.000 0.000
nasopharyngeal carcinoma -1.700 0.000
spina bifida -2.514 0.042

Gene RIF (28)

PMID Text
26871801 These results indicate that megsin gene variants may play a role in the severity, development, and/or progression of IgAN in Northwest Chinese population
26763456 Recessive missense mutation of SERPINB7 gene was found in Japanese families diagnosed with palmoplantar keratosis.
25940237 Results show splice variants from the two recurrent splice-site mutations in SERPINB7, provide evidence for the pathogenicity of the mutations and suggest an in-frame deletion of exon 3 may cause NPPK and that the CD-loop could affect SERPINB7 function
25007157 Megsin 2093C/T TT genotype, and C25663G G allele and GG genotype were associated with the risk of IgAN in Asian population
24954659 The mean concentration of serpin B7 at 28-32 weeks was 1.5-fold higher in women with subsequent preterm deliveries compared to controls.
24773080 These data clearly provide further evidence that NPPK is caused by loss-of-function mutations in SERPINB7.
24575807 megsin 2093C/T C allele may be genetic marker for IgA nephropathy susceptibility [review]
24514002 study reports on seven unrelated Chinese patients with Nagashima-Type Palmoplantar Keratosis with four underlying SERPINB7 mutations, of which one is a recurrent variant (c.796C>T)
24207119 All of the identified mutants are predicted to cause premature termination upstream of the reactive site, which inhibits the proteases, suggesting a complete loss of the protease inhibitory activity of SERPINB7 in palmoplantar keratosis skin.
23383108 A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of serpin peptidase inhibitor, clade B, member 7 (SERPINB7) in peptide-treated PBMCs
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AA Sequence

MASLAAANAEFCFNLFREMDDNQGNGNVFFSSLSLFAALALVRLGAQDDSLSQIDKLLHVNTASGYGNSS      1 - 70
NSQSGLQSQLKRVFSDINASHKDYDLSIVNGLFAEKVYGFHKDYIECAEKLYDAKVERVDFTNHLEDTRR     71 - 140
NINKWVENETHGKIKNVIGEGGISSSAVMVLVNAVYFKGKWQSAFTKSETINCHFKSPKCSGKAVAMMHQ    141 - 210
ERKFNLSVIEDPSMKILELRYNGGINMYVLLPENDLSEIENKLTFQNLMEWTNPRRMTSKYVEVFFPQFK    211 - 280
IEKNYEMKQYLRALGLKDIFDESKADLSGIASGGRLYISRMMHKSYIEVTEEGTEATAATGSNIVEKQLP    281 - 350
QSTLFRADHPFLFVIRKDDIILFSGKVSCP                                            351 - 380
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Text Mined References (36)

PMID Year Title
26871801 2016 Association of Megsin Gene Variants With IgA Nephropathy in Northwest Chinese Population: A STROBE-Compliant Observational Study.
26763456 2016 Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis.
25940237 2015 Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7.
25007157 2015 Association of Megsin gene polymorphism with IgA nephropathy risk.
24954659 2014 Maternal serum serpin B7 is associated with early spontaneous preterm birth.
24773080 2014 Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
24575807 2014 Association of megsin 2093C/T, 2180C/T and C25663G gene polymorphism with the risk of IgA nephropathy.
24514002 2014 New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis.
24207119 2013 Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
24172014 2013 Update of the human and mouse SERPIN gene superfamily.
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