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Aliases for SERPINB7 Gene

Aliases for SERPINB7 Gene

  • Serpin Family B Member 7 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 7 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 7 2 3
  • MEGSIN 3 4
  • Tp55 3 4
  • Mesangium Predominant Gene, Megsin 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINB7 Gene

Genomics for SERPINB7 Gene

Regulatory Elements for SERPINB7 Gene

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

Genomic Location for SERPINB7 Gene

Chromosome:
18
Start:
63,752,935 bp from pter
End:
63,805,376 bp from pter
Size:
52,442 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 StructureGene Density

RefSeq DNA sequence for SERPINB7 Gene

Proteins for SERPINB7 Gene

  • 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

Proteomics data for SERPINB7 Gene at MOPED

Post-translational modifications for SERPINB7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

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

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SERPINB7 Gene COMPARTMENTS Subcellular localization image for SERPINB7 gene
Compartment Confidence
extracellular 3
cytosol 2
endoplasmic reticulum 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for SERPINB7 Gene

Pathways & Interactions for SERPINB7 Gene

SuperPathways for SERPINB7 Gene

No Data Available

Interacting Proteins for SERPINB7 Gene

Gene Ontology (GO) - Biological Process for SERPINB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity TAS 9710452
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:

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

No ASD Table

Relevant External Links for SERPINB7 Gene

GeneLoc Exon Structure for
SERPINB7
ECgene alternative splicing isoforms for
SERPINB7

Expression for SERPINB7 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for SERPINB7 Gene



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.
genes like me logo Genes that share expression patterns with SERPINB7: view

Protein tissue co-expression partners for SERPINB7 Gene

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia SERPINB7 35
  • 99.47 (n)
  • 100 (a)
SERPINB7 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINB7 36
  • 80 (a)
OneToOne
SERPINB7 35
  • 83.77 (n)
  • 79.74 (a)
dog
(Canis familiaris)
Mammalia SERPINB7 35
  • 85.44 (n)
  • 82.63 (a)
SERPINB7 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinb7 36
  • 74 (a)
OneToOne
Serpinb7 16
Serpinb7 35
  • 80.18 (n)
  • 73.95 (a)
oppossum
(Monodelphis domestica)
Mammalia SERPINB7 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpinb7 35
  • 78.77 (n)
  • 73.68 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 27 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Spn5 37
  • 28 (a)
nec 36
  • 21 (a)
ManyToMany
Spn1 36
  • 28 (a)
ManyToMany
Spn2 36
  • 26 (a)
ManyToMany
Spn28Da 36
  • 24 (a)
ManyToMany
Spn28Db 36
  • 23 (a)
ManyToMany
Spn3 36
  • 26 (a)
ManyToMany
Spn4 36
  • 25 (a)
ManyToMany
Spn42Db 36
  • 25 (a)
ManyToMany
Spn42Dc 36
  • 27 (a)
ManyToMany
Spn42De 36
  • 28 (a)
ManyToMany
Spn43Aa 36
  • 25 (a)
ManyToMany
Spn43Ab 36
  • 22 (a)
ManyToMany
Spn47C 36
  • 25 (a)
ManyToMany
Spn6 36
  • 28 (a)
ManyToMany
Spn7 36
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea srp-6 37
  • 32 (a)
srp-7 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for SERPINB7:
  • 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

ENSEMBL:
Gene Tree for SERPINB7 (if available)
TreeFam:
Gene Tree for SERPINB7 (if available)

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 Sequence Context AA Info Type
rs17782413 - 63,804,289(+) AAGGC(A/G)AATGA reference, missense
rs1055900 -- 63,805,179(+) GGACC(A/T)ACCAA utr-variant-3-prime
rs1055901 -- 63,805,221(+) TTTGG(C/T)CTTTC utr-variant-3-prime
rs1055902 -- 63,805,309(+) CATAT(C/T)TCATA utr-variant-3-prime
rs1105578 -- 63,758,145(-) ACAAT(A/G)ATACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833672 CNV Gain 17160897
esv21739 CNV Gain 19812545
esv1109412 CNV Insertion 17803354

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

HapMap Linkage Disequilibrium report
SERPINB7
Human Gene Mutation Database (HGMD)
SERPINB7

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

Disorders for SERPINB7 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
palmoplantar keratoderma, nagashima type
  • ppk, nagashima type
palmoplantar keratosis
  • keratosis palmaris et plantaris
palmoplantar keratoderma and woolly hair
  • ppkwh
keratosis
  • actinic keratosis
encephalopathy, familial, with neuroserpin inclusion bodies
  • familial encephalopathy with neuroserpin inclusion bodies
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for SERPINB7

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

No data available for Genatlas for SERPINB7 Gene

Publications for SERPINB7 Gene

  1. The influence of two megsin polymorphisms on the progression of IgA nephropathy. (PMID: 18498720) MaixnerovA! D. … Tesar V. (Folia Biol. (Praha) 2008) 3 23 48 67
  2. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3
  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 23
  4. 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 23
  5. 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 23

Products for SERPINB7 Gene

Sources for SERPINB7 Gene

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