SERPINB7 (serpin family B member 7)

Gene

• Entrez ID: 8710
• Gene name: Serpin family B member 7
• Gene symbol: SERPINB7
• Synonyms: MEGSIN, PPKN, TP55
• Chromosome: 18
• Chromosome location: 18q21.33
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142859678	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs577442939	G>A	Pathogenic	Splice acceptor variant
rs672601344	->T	Pathogenic	Coding sequence variant, frameshift variant
rs797044479	AG>TAAACTTTACCT	Pathogenic	Frameshift variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1338709	hsa-miR-136	CLIP-seq
MIRT1338710	hsa-miR-3663-3p	CLIP-seq
MIRT1338711	hsa-miR-4639-3p	CLIP-seq
MIRT1338712	hsa-miR-511	CLIP-seq
MIRT2325025	hsa-miR-199a-5p	CLIP-seq
MIRT2325026	hsa-miR-199b-5p	CLIP-seq
MIRT2325027	hsa-miR-4686	CLIP-seq
MIRT2325028	hsa-miR-628-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA	21873635
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005737	Component	Cytoplasm	IEA
GO:0010951	Process	Negative regulation of endopeptidase activity	IBA	21873635
GO:0032914	Process	Positive regulation of transforming growth factor beta1 production	IEA
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IEA
GO:0072126	Process	Positive regulation of glomerular mesangial cell proliferation	IEA
GO:0090362	Process	Positive regulation of platelet-derived growth factor production	IEA

Other IDs

• MIM: 603357
• HGNC: 13902
• e!Ensembl: ENSG00000166396

Protein

• UniProt ID: O75635
• Protein name: Serpin B7 (Megsin) (TP55)
• Protein function: Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00079	Serpin	6 → 380	Serpin (serine protease inhibitor)	Domain

• Sequence:

  MASLAAANAEFCFNLFREMDDNQGNGNVFFSSLSLFAALALVRLGAQDDSLSQIDKLLHV
  NTASGYGNSSNSQSGLQSQLKRVFSDINASHKDYDLSIVNGLFAEKVYGFHKDYIECAEK
  LYDAKVERVDFTNHLEDTRRNINKWVENETHGKIKNVIGEGGISSSAVMVLVNAVYFKGK
  WQSAFTKSETINCHFKSPKCSGKAVAMMHQERKFNLSVIEDPSMKILELRYNGGINMYVL
  LPENDLSEIENKLTFQNLMEWTNPRRMTSKYVEVFFPQFKIEKNYEMKQYLRALGLKDIF
  DESKADLSGIASGGRLYISRMMHKSYIEVTEEGTEATAATGSNIVEKQLPQSTLFRADHP
  FLFVIRKDDIILFSGKVSCP

• Sequence length: 380

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma, Childhood asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	31619474, 30929738, 31036433, 30929738, 31036433
Palmoplantar keratoderma	Palmoplantar keratoderma Nagashima type, Keratoderma, Palmoplantar, Palmoplantar keratoderma, Nagashima type	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561	28211129, 24207119

Unknown
Disease name	Disease term	dbSNP ID	References
Hyperhidrosis palmaris et plantaris	Hyperhidrosis Palmaris Et Plantaris
Orthokeratotic hyperkeratosis	Orthokeratotic hyperkeratosis