SERPINB7 Gene (Protein Coding)

Serpin Family B Member 7

GC18P063752
GIFtS:
42
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] See more...

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
  • Serpin B7 3 4
  • MEGSIN 2 3
  • TP55 3 4
  • Mesangium Predominant Gene, Megsin 3
  • SERPINB7 5
  • 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 SERPINB11.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SERPINB7 Gene

Genomics for SERPINB7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SERPINB7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 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 Ensembl ENCODE dbSUPER 261.7 +24.7 24671 6.7 CEBPB EP300 RFX5 JUND POLR2A FOS SERPINB7 SERPINB10 piR-32023-098 HSALNG0122068-001 SERPINB2
GH18J063753 Promoter 0.3 EPDnew 250.7 +0.1 103 0.1 SERPINB7 MK280144-310 SERPINB2
GH18J063680 Enhancer 0.9 FANTOM5 ENCODE 11.2 -70.3 -70281 3.4 BRCA1 CEBPB FOXA2 MAX EP300 RXRA STAT3 TBP JUND USF2 SERPINB3 SERPINB7 SERPINB12 SERPINB11 SERPINB5 HSALNG0122064 HSALNG0122061
GH18J063730 Enhancer 0.7 Ensembl ENCODE 12.1 -21.7 -21735 1.2 CEBPB MAX MAFF TBP TCF7L2 USF2 MAFK ZBTB12 USF1 SERPINB7 SERPINB5 SERPINB11 SERPINB10 HSALNG0122065 lnc-SERPINB3-5 SERPINB3
GH18J063588 Enhancer 0.5 Ensembl 9.6 -162.8 -162823 3 CEBPB SPI1 POLR2A MYC MAX SERPINB11 SERPINB12 SERPINB7 SERPINB10 SERPINB13 piR-38351-233 SERPINB4
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINB7

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

Genomic Locations for SERPINB7 Gene

Latest Assembly
chr18:63,752,935-63,805,376
(GRCh38/hg38)
Size:
52,442 bases
Orientation:
Plus strand

Previous Assembly
chr18:61,420,291-61,472,604
(GRCh37/hg19 by Entrez Gene)
Size:
52,314 bases
Orientation:
Plus strand

chr18:61,420,169-61,472,604
(GRCh37/hg19 by Ensembl)
Size:
52,436 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for SERPINB7 Gene

Proteins for SERPINB7 Gene

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

    Protein Symbol:
    O75635-SPB7_HUMAN
    Recommended name:
    Serpin B7
    Protein Accession:
    O75635
    Secondary Accessions:
    • B4DUW8
    • F5GZC0
    • Q1ED45
    • Q3KPG4

    Protein attributes for SERPINB7 Gene

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

    Alternative splice isoforms for SERPINB7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINB7 Gene

Protein Expression for SERPINB7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SERPINB7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SERPINB7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Biorbyt antibodies for SERPINB7
  • Boster Bio Antibodies for SERPINB7
  • Santa Cruz Biotechnology (SCBT) Antibodies for SERPINB7

No data available for DME Specific Peptides for SERPINB7 Gene

Domains & Families for SERPINB7 Gene

Gene Families for SERPINB7 Gene

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

Protein Domains for SERPINB7 Gene

InterPro:
Blocks:
  • Serpin
  • Maspin signature
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINB7 Gene

GenScript: Design optimal peptide antigens:
  • TP55 (SPB7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75635

UniProtKB/Swiss-Prot:

SPB7_HUMAN :
  • Belongs to the serpin family. Ov-serpin subfamily.
Family:
  • Belongs to the serpin family. Ov-serpin subfamily.
genes like me logo Genes that share domains with SERPINB7: view

Function for SERPINB7 Gene

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  6. Cell Lines for research

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 TAS,IBA 21873635
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB7

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

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 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SERPINB7: view

Pathways & Interactions for SERPINB7 Gene

PathCards logo

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 IBA 21873635
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

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(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

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mRNA/cDNA for SERPINB7 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB7

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

No ASD Table

Relevant External Links for SERPINB7 Gene

GeneLoc Exon Structure for
SERPINB7

Expression for SERPINB7 Gene

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  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for SERPINB7 Gene
mRNA expression by GTEx for SERPINB7 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINB7

SOURCE GeneReport for Unigene cluster for SERPINB7 Gene:

Hs.138202

mRNA Expression by UniProt/SwissProt for SERPINB7 Gene:

O75635-SPB7_HUMAN
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(4.3)
  • Skin(2.7)

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

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

Primer products for research

Orthologs for SERPINB7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SERPINB7 30 31
  • 99.47 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SERPINB7 30 31
  • 85.44 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SERPINB7 30 31
  • 83.77 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Serpinb7 30 17 31
  • 80.18 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Serpinb7 30
  • 78.77 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SERPINB7 31
  • 65 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 27 (a)
 ManyToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Spn1 31
  • 28 (a)
 ManyToMany
Spn42De 31
  • 28 (a)
 ManyToMany
Spn6 31
  • 28 (a)
 ManyToMany
Spn5 32
  • 28 (a)
Spn42Dc 31
  • 27 (a)
 ManyToMany
Spn3 31
  • 26 (a)
 ManyToMany
Spn2 31
  • 26 (a)
 ManyToMany
Spn7 31
  • 25 (a)
 ManyToMany
Spn43Aa 31
  • 25 (a)
 ManyToMany
Spn4 31
  • 25 (a)
 ManyToMany
Spn47C 31
  • 25 (a)
 ManyToMany
Spn42Db 31
  • 25 (a)
 ManyToMany
Spn28Da 31
  • 24 (a)
 ManyToMany
Spn28Db 31
  • 23 (a)
 ManyToMany
Spn43Ab 31
  • 22 (a)
 ManyToMany
nec 31
  • 21 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea srp-6 32
  • 32 (a)
srp-7 32
  • 30 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 33 (a)
 OneToMany
Species where no ortholog for SERPINB7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for SERPINB7 (if available)
TreeFam:
Gene Tree for SERPINB7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINB7: view image

Paralogs for SERPINB7 Gene

Paralogs for SERPINB7 Gene

(28) SIMAP similar genes for SERPINB7 Gene using alignment to 3 proteins:

  • SPB7_HUMAN
  • C9JA68_HUMAN
  • C9JM00_HUMAN
genes like me logo Genes that share paralogs with SERPINB7: view

Variants for SERPINB7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINB7 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
871598 Uncertain Significance: not provided 63,804,478(+) T/G
NM_003784.4(SERPINB7):c.986T>G (p.Val329Gly) 		MISSENSE
rs142859678 Pathogenic: Palmoplantar keratoderma, nagashima type; not provided 63,804,288(+) C/T
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) 		NONSENSE
rs201208667 Uncertain Significance: not provided 63,804,628(+) G/A
NM_003784.4(SERPINB7):c.1136G>A (p.Cys379Tyr) 		MISSENSE
rs577442939 Pathogenic: Palmoplantar keratoderma, nagashima type 63,798,603(+) G/A
NM_003784.4(SERPINB7):c.455-1G>A 		SPLICE_ACCEPTOR
rs672601344 Pathogenic: Palmoplantar keratoderma, nagashima type; not provided 63,798,670(+) C/CT
NM_003784.4(SERPINB7):c.522dup (p.Val175fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINB7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
SERPINB7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINB7

SNP Genotyping and Copy Number Assays for research

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

Disorders for SERPINB7 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SERPINB7 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
palmoplantar keratoderma, nagashima type
  • ppkn
palmoplantar keratosis
  • keratosis palmaris et plantaris
serpinopathy
keratosis
  • actinic keratosis
subacute glomerulonephritis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPB7_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for SERPINB7

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

No data available for Genatlas for SERPINB7 Gene

Publications for SERPINB7 Gene

  1. Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. (PMID: 24207119) Kubo A … Amagai M (American journal of human genetics 2013) 3 4 74
  2. [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 23 41
  3. The influence of two megsin polymorphisms on the progression of IgA nephropathy. (PMID: 18498720) Maixnerová D … Tesar V (Folia biologica 2008) 3 23 41
  4. 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 23 41
  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 23 41

ExternalLinks

View latest publications for SERPINB7 gene in Mastermind

Products for SERPINB7 Gene

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Sources for SERPINB7 Gene