SERPINB7 (serpin family B member 7)

Gene

• Entrez ID: 8710
• Gene name: Serpin family B member 7
• Gene symbol: SERPINB7
• Synonyms (NCBI Gene): 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
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	9710452
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0030414	Function	Peptidase inhibitor activity	IEA
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

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body. {ECO:0000269|PubMed:24207119}.
• Sequence:

  MASLAAANAEFCFNLFREMDDNQGNGNVFFSSLSLFAALALVRLGAQDDSLSQIDKLLHV
  NTASGYGNSSNSQSGLQSQLKRVFSDINASHKDYDLSIVNGLFAEKVYGFHKDYIECAEK
  LYDAKVERVDFTNHLEDTRRNINKWVENETHGKIKNVIGEGGISSSAVMVLVNAVYFKGK
  WQSAFTKSETINCHFKSPKCSGKAVAMMHQERKFNLSVIEDPSMKILELRYNGGINMYVL
  LPENDLSEIENKLTFQNLMEWTNPRRMTSKYVEVFFPQFKIEKNYEMKQYLRALGLKDIF
  DESKADLSGIASGGRLYISRMMHKSYIEVTEEGTEATAATGSNIVEKQLPQSTLFRADHP
  FLFVIRKDDIILFSGKVSCP

• Sequence length: 380

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Palmoplantar keratoderma, Nagashima type	Pathogenic	rs534014297, rs142859678, rs797044479, rs577442939, rs199555021, rs672601344	RCV001807885 RCV000088682 RCV000088683 RCV000088684 RCV001784959 RCV000144910	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Palmoplantar keratodermas	Pathogenic	rs142859678	RCV006250218	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SERPINB7-related disorder	Pathogenic; Likely pathogenic	rs142859678, rs1049876333	RCV003415873 RCV003961659	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30245304		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738, 31036433, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	19690890	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	18498720, 26871801	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	9710452	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperhidrosis Palmaris Et Plantaris	Hyperhidrosis Palmaris Et Plantaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	34379845	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	10977777, 15213261, 16431886, 18793525, 26871801, 9710452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	16431886, 16550745, 18498720, 18793525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	24773080, 25029323, 27666198, 29106929, 31706940		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18498720	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesangial sclerosis diffuse	Diffuse mesangial sclerosis	Pubtator	18498720	Stimulate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	9710452	Associate	★☆☆☆☆ Found in Text Mining only
Orthokeratotic hyperkeratosis	Orthokeratotic hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar keratoderma Nagashima type	Palmoplantar Keratoderma	ORPHANET_DG	24207119		★☆☆☆☆ Found in Text Mining only
Palmoplantar keratoderma Nagashima type	Palmoplantar Keratoderma	GENOMICS_ENGLAND_DG	24207119, 28211129		★☆☆☆☆ Found in Text Mining only
Palmoplantar keratoderma Nagashima type	Palmoplantar Keratoderma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar keratoderma Nagashima type	Palmoplantar Keratoderma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar keratoderma, Nagashima type	Palmoplantar Keratoderma	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Palmoplantar Keratosis	Palmoplantar Keratosis	BEFREE	24773080, 25029323, 29106929, 31706940		★☆☆☆☆ Found in Text Mining only
Peeling skin syndrome acral type	Peeling skin syndrome	Pubtator	34379845	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	26871801	Associate	★☆☆☆☆ Found in Text Mining only