• Gene id: 8710

Gene Summary

• Gene Symbol: SERPINB7   Gene   UCSC   Ensembl
• Aliases: MEGSIN, PPKN, TP55
• Gene name: serpin family B member 7
• Alternate names: serpin B7, mesangium predominant gene, megsin, serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7, serpin peptidase inhibitor, clade B (ovalbumin), member 7,
• Gene location: 18q21.33 (63753046: 63805375)     Exons: 11     NC_000018.10
• Gene summary(Entrez): This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing resul
• OMIM: 603357

Protein Summary

• Protein general information: O75635  
  • Name: Serpin B7 (Megsin) (TP55)
  • Length: 380  
  • Mass: 42905
  • Tissue specificity: Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body. {ECO
• Sequence:

  MASLAAANAEFCFNLFREMDDNQGNGNVFFSSLSLFAALALVRLGAQDDSLSQIDKLLHVNTASGYGNSSNSQSG
  LQSQLKRVFSDINASHKDYDLSIVNGLFAEKVYGFHKDYIECAEKLYDAKVERVDFTNHLEDTRRNINKWVENET
  HGKIKNVIGEGGISSSAVMVLVNAVYFKGKWQSAFTKSETINCHFKSPKCSGKAVAMMHQERKFNLSVIEDPSMK
  ILELRYNGGINMYVLLPENDLSEIENKLTFQNLMEWTNPRRMTSKYVEVFFPQFKIEKNYEMKQYLRALGLKDIF
  DESKADLSGIASGGRLYISRMMHKSYIEVTEEGTEATAATGSNIVEKQLPQSTLFRADHPFLFVIRKDDIILFSG
  KVSCP

• Structural information:
  • Interpro: IPR023795  IPR023796  IPR000215  IPR036186  IPR042178   IPR042185  
  • Prosite: PS00284
  • STRING: ENSP00000381101
• Other Databases: GeneCards:  SERPINB7  Malacards:  SERPINB7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0090362	positive regulation of platelet-derived growth factor production	IEA	biological process
GO:0032914	positive regulation of transforming growth factor beta1 production	IEA	biological process
GO:0072126	positive regulation of glomerular mesangial cell proliferation	IEA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Palmoplantar keratoderma, Nagashima type	KEGG:H02264
Palmoplantar keratoderma, Nagashima type	KEGG:H02264
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq