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Aliases for SERPINB7 Gene

Aliases for SERPINB7 Gene

  • Serpin Family B Member 7 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 7 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 7 2 3
  • MEGSIN 3 4
  • Tp55 3 4
  • Mesangium Predominant Gene, Megsin 3
  • Serpin B7 3
  • PPKN 3

External Ids for SERPINB7 Gene

Previous GeneCards Identifiers for SERPINB7 Gene

  • GC18P061281
  • GC18P061394
  • GC18P059569
  • GC18P059571
  • GC18P058121

Summaries for SERPINB7 Gene

Entrez Gene Summary for SERPINB7 Gene

  • 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 results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for SERPINB7 Gene

SERPINB7 (Serpin Family B Member 7) is a Protein Coding gene. Diseases associated with SERPINB7 include Palmoplantar Keratoderma, Nagashima Type and Palmoplantar Keratosis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB12.

UniProtKB/Swiss-Prot for SERPINB7 Gene

  • Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.

Gene Wiki entry for SERPINB7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINB7 Gene

Genomics for SERPINB7 Gene

Regulatory Elements for SERPINB7 Gene

Enhancers for SERPINB7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G063680 1.4 FANTOM5 Ensembl ENCODE 11.1 -70.3 -70282 3.4 TBP FOXA2 TAF1 JUN TEAD4 MAX BRCA1 YY1 NCOR1 HNF4G SERPINB3 SERPINB7 SERPINB12 SERPINB11 SERPINB5 GC18P063715 GC18P063716
GH18G063787 1 Ensembl ENCODE dbSUPER 0.3 +35.8 35761 1.7 JUND JUN FOS EP300 SERPINB10 SERPINB7 SERPINB2
GH18G063762 0.6 ENCODE dbSUPER 0.4 +9.8 9842 1.5 MAFK SERPINB3 SERPINB7 SERPINB2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPINB7 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SERPINB7 gene promoter:

Genomic Location for SERPINB7 Gene

63,752,935 bp from pter
63,805,376 bp from pter
52,442 bases
Plus strand

Genomic View for SERPINB7 Gene

Genes around SERPINB7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINB7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINB7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINB7 Gene

Proteins for SERPINB7 Gene

  • Protein details for SERPINB7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serpin B7
    Protein Accession:
    Secondary Accessions:
    • B4DUW8
    • F5GZC0
    • Q1ED45
    • Q3KPG4

    Protein attributes for SERPINB7 Gene

    380 amino acids
    Molecular mass:
    42905 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SERPINB7 Gene


neXtProt entry for SERPINB7 Gene

Post-translational modifications for SERPINB7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SERPINB7 Gene

Domains & Families for SERPINB7 Gene

Gene Families for SERPINB7 Gene

Protein Domains for SERPINB7 Gene

Suggested Antigen Peptide Sequences for SERPINB7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the serpin family. Ov-serpin subfamily.
  • Belongs to the serpin family. Ov-serpin subfamily.
genes like me logo Genes that share domains with SERPINB7: view

Function for SERPINB7 Gene

Molecular function for SERPINB7 Gene

UniProtKB/Swiss-Prot Function:
Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.

Gene Ontology (GO) - Molecular Function for SERPINB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINB7: view
genes like me logo Genes that share phenotypes with SERPINB7: view

Human Phenotype Ontology for SERPINB7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SERPINB7 Gene

Localization for SERPINB7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB7 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINB7 gene
Compartment Confidence
extracellular 4
cytosol 2
plasma membrane 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SERPINB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SERPINB7: view

Pathways & Interactions for SERPINB7 Gene

SuperPathways for SERPINB7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SERPINB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0032914 positive regulation of transforming growth factor beta1 production IEA --
GO:0032967 positive regulation of collagen biosynthetic process IEA --
GO:0072126 positive regulation of glomerular mesangial cell proliferation IEA --
genes like me logo Genes that share ontologies with SERPINB7: view

No data available for Pathways by source and SIGNOR curated interactions for SERPINB7 Gene

Drugs & Compounds for SERPINB7 Gene

(1) Drugs for SERPINB7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SERPINB7: view

Transcripts for SERPINB7 Gene

Unigene Clusters for SERPINB7 Gene

Serpin peptidase inhibitor, clade B (ovalbumin), member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB7 Gene

No ASD Table

Relevant External Links for SERPINB7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SERPINB7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SERPINB7 Gene

mRNA differential expression in normal tissues according to GTEx for SERPINB7 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x26.2) and Skin - Not Sun Exposed (Suprapubic) (x20.9).

Protein differential expression in normal tissues from HIPED for SERPINB7 Gene

This gene is overexpressed in Serum (56.4) and Islet of Langerhans (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SERPINB7 Gene

Protein tissue co-expression partners for SERPINB7 Gene

NURSA nuclear receptor signaling pathways regulating expression of SERPINB7 Gene:


SOURCE GeneReport for Unigene cluster for SERPINB7 Gene:


mRNA Expression by UniProt/SwissProt for SERPINB7 Gene:

Tissue specificity: Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body.

Evidence on tissue expression from TISSUES for SERPINB7 Gene

  • Kidney(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINB7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
Head and neck:
  • brain
  • head
  • foot
  • hand
  • lower limb
  • upper limb
  • blood
  • blood vessel
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with SERPINB7: view

Primer Products

Orthologs for SERPINB7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SERPINB7 34 35
  • 99.47 (n)
(Canis familiaris)
Mammalia SERPINB7 34 35
  • 85.44 (n)
(Bos Taurus)
Mammalia SERPINB7 34 35
  • 83.77 (n)
(Mus musculus)
Mammalia Serpinb7 34 16 35
  • 80.18 (n)
(Rattus norvegicus)
Mammalia Serpinb7 34
  • 78.77 (n)
(Monodelphis domestica)
Mammalia SERPINB7 35
  • 65 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 27 (a)
fruit fly
(Drosophila melanogaster)
Insecta Spn5 36
  • 28 (a)
Spn1 35
  • 28 (a)
Spn42De 35
  • 28 (a)
Spn6 35
  • 28 (a)
Spn42Dc 35
  • 27 (a)
Spn2 35
  • 26 (a)
Spn3 35
  • 26 (a)
Spn4 35
  • 25 (a)
Spn42Db 35
  • 25 (a)
Spn43Aa 35
  • 25 (a)
Spn47C 35
  • 25 (a)
Spn7 35
  • 25 (a)
Spn28Da 35
  • 24 (a)
Spn28Db 35
  • 23 (a)
Spn43Ab 35
  • 22 (a)
nec 35
  • 21 (a)
(Caenorhabditis elegans)
Secernentea srp-6 36
  • 32 (a)
srp-7 36
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
Species where no ortholog for SERPINB7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SERPINB7 Gene

Gene Tree for SERPINB7 (if available)
Gene Tree for SERPINB7 (if available)

Paralogs for SERPINB7 Gene

Variants for SERPINB7 Gene

Sequence variations from dbSNP and Humsavar for SERPINB7 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs142859678 Pathogenic 63,804,288(+) CAAGG(C/T)GAATG reference, stop-gained
rs577442939 Pathogenic 63,798,603(+) CAAAA(A/G)GCAAA splice-acceptor-variant
rs672601344 Pathogenic 63,798,671(+) ATGCT(-/T)GTGTA reference, frameshift-variant
rs797044479 Pathogenic 63,792,442(+) TAGTC(AG/TAAACTTTACCT)GTAAA intron-variant, reference, frameshift-variant
rs1000010811 -- 63,782,938(+) TCGAG(A/G)CCATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SERPINB7 Gene

Variant ID Type Subtype PubMed ID
esv1109412 CNV insertion 17803354
esv21739 CNV gain 19812545
esv3642781 CNV gain 21293372
esv3893113 CNV gain 25118596
nsv1066552 CNV gain 25217958
nsv1138635 CNV deletion 24896259
nsv833672 CNV gain 17160897

Variation tolerance for SERPINB7 Gene

Residual Variation Intolerance Score: 47.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.14; 80.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPINB7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB7 Gene

Disorders for SERPINB7 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SERPINB7 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar keratoderma, nagashima type
  • ppk, nagashima type
palmoplantar keratosis
  • keratosis palmaris et plantaris
iga glomerulonephritis
  • berger's iga or igg nephropathy
encephalopathy, familial, with neuroserpin inclusion bodies
  • familial encephalopathy with neuroserpin inclusion bodies
  • actinic keratosis
- elite association - COSMIC cancer census association via MalaCards


  • Keratoderma, palmoplantar, Nagashima type (PPKN) [MIM:615598]: An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive. {ECO:0000269 PubMed:24207119}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SERPINB7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SERPINB7: view

No data available for Genatlas for SERPINB7 Gene

Publications for SERPINB7 Gene

  1. Megsin 2093T-2180C haplotype at the 3' untranslated region is associated with poor renal survival in Korean IgA nephropathy patients. (PMID: 18793525) Lim C.S. … Kim S. (Clin. Nephrol. 2008) 3 22 46 64
  2. The influence of two megsin polymorphisms on the progression of IgA nephropathy. (PMID: 18498720) MaixnerovA! D. … Tesar V. (Folia Biol. (Praha) 2008) 3 22 46 64
  3. [Correlation between traditional Chinese medicine syndromes in primary immunoglobulin A nephropathy and A267G in 5'-untranslated region within exonal of megsin gene]. (PMID: 18471408) Zhong Y.F. … Wang Z.H. (Zhong Xi Yi Jie He Xue Bao 2008) 3 22 46 64
  4. Association of MEGSIN 2093C-2180T haplotype at the 3' untranslated region with disease severity and progression of IgA nephropathy. (PMID: 16431886) Xia Y. … Wang Y. (Nephrol. Dial. Transplant. 2006) 3 22 46 64
  5. [Association of single nucleotide polymorphism of megsin gene with IgA nephropathy]. (PMID: 16796905) Wang Z.H. … Han B. (Zhonghua Yi Xue Za Zhi 2006) 3 22 46 64

Products for SERPINB7 Gene

Sources for SERPINB7 Gene

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