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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
  • TP55 3 4
  • Mesangium Predominant Gene, Megsin 3
  • Serpin B7 3
  • MEGSIN 3
  • Megsin 4
  • 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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SERPINB7 Gene

Promoters and enhancers for SERPINB7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J063774 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 661.7 +24.7 24671 6.7 JUND POLR2A JUN CEBPB FOSL2 FOS EP300 RFX5 SERPINB7 SERPINB10 SERPINB2
GH18J063753 Promoter 0.5 EPDnew 650.7 +0.1 103 0.1 SERPINB7 SERPINB2
GH18J063680 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.2 -70.3 -70281 3.4 FOXA2 JUN MAX BRCA1 YY1 POLR2A HNF4G RCOR1 FOSL2 MAFK SERPINB3 SERPINB7 SERPINB12 SERPINB11 SERPINB5 GC18P063715 GC18P063716
GH18J063787 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.3 +35.8 35760 1.7 JUND POLR2A JUN FOS EP300 GABPA SERPINB10 SERPINB7 SERPINB2
GH18J063762 Enhancer 0.4 ENCODE dbSUPER 0.4 +9.8 9842 1.5 SERPINB3 SERPINB7 SERPINB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINB7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERPINB7 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • c-Fos

Genomic Locations for SERPINB7 Gene

Genomic Locations for SERPINB7 Gene
52,442 bases
Plus strand
52,436 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

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for SERPINB7 Gene

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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Mitochondria (2)
See all subcellular structures

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

Clone 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, 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)
  • Skin(2.3)

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

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 33
  • 99.47 (n)
(Canis familiaris)
Mammalia SERPINB7 34 33
  • 85.44 (n)
(Bos Taurus)
Mammalia SERPINB7 34 33
  • 83.77 (n)
(Mus musculus)
Mammalia Serpinb7 16 34 33
  • 80.18 (n)
(Rattus norvegicus)
Mammalia Serpinb7 33
  • 78.77 (n)
(Monodelphis domestica)
Mammalia SERPINB7 34
  • 65 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 27 (a)
fruit fly
(Drosophila melanogaster)
Insecta Spn1 34
  • 28 (a)
Spn42De 34
  • 28 (a)
Spn6 34
  • 28 (a)
Spn5 35
  • 28 (a)
Spn42Dc 34
  • 27 (a)
Spn3 34
  • 26 (a)
Spn2 34
  • 26 (a)
Spn7 34
  • 25 (a)
Spn43Aa 34
  • 25 (a)
Spn4 34
  • 25 (a)
Spn47C 34
  • 25 (a)
Spn42Db 34
  • 25 (a)
Spn28Da 34
  • 24 (a)
Spn28Db 34
  • 23 (a)
Spn43Ab 34
  • 22 (a)
nec 34
  • 21 (a)
(Caenorhabditis elegans)
Secernentea srp-6 35
  • 32 (a)
srp-7 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Evolutionary constrained regions (ECRs) for SERPINB7: view image

Paralogs for SERPINB7 Gene

genes like me logo Genes that share paralogs with SERPINB7: view

Variants for SERPINB7 Gene

Sequence variations from dbSNP and Humsavar for SERPINB7 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs142859678 pathogenic, Palmoplantar keratoderma, nagashima type, not provided 63,804,288(+) C/T coding_sequence_variant, stop_gained
rs577442939 pathogenic, Palmoplantar keratoderma, nagashima type 63,798,603(+) G/A splice_acceptor_variant
rs672601344 pathogenic, Palmoplantar keratoderma, nagashima type, not provided 63,798,671(+) T/TT coding_sequence_variant, frameshift
rs797044479 pathogenic, Palmoplantar keratoderma, nagashima type 63,792,442(+) AG/TAAACTTTACCT coding_sequence_variant, frameshift, intron_variant
rs1000010811 -- 63,782,938(+) A/G 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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for SERPINB7

Genetic Association Database
Human Genome Epidemiology 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. [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 YF … Wang ZH (Zhong xi yi jie he xue bao = Journal of Chinese integrative medicine 2008) 3 22 44 58
  2. The influence of two megsin polymorphisms on the progression of IgA nephropathy. (PMID: 18498720) Maixnerová D … Tesar V (Folia biologica 2008) 3 22 44 58
  3. Megsin 2093T-2180C haplotype at the 3' untranslated region is associated with poor renal survival in Korean IgA nephropathy patients. (PMID: 18793525) Lim CS … Kim S (Clinical nephrology 2008) 3 22 44 58
  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 (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2006) 3 22 44 58
  5. [Association of single nucleotide polymorphism of megsin gene with IgA nephropathy]. (PMID: 16796905) Wang ZH … Han B (Zhonghua yi xue za zhi 2006) 3 22 44 58

Products for SERPINB7 Gene

Sources for SERPINB7 Gene

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