SERPINB7 (serpin family B member 7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8710
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family B member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINB7
Synonyms (NCBI Gene) Gene synonyms aliases
MEGSIN, PPKN, TP55
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.33
Summary Summary of gene provided in NCBI Entrez 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 resul
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603357 13902 ENSG00000166396
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Sequence length 380
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Palmoplantar Keratoderma palmoplantar keratoderma, nagashima type rs142859678, rs797044479, rs577442939, rs672601344 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma, Asthma (childhood onset), Atopic asthma, Asthma onset (childhood vs adult), Asthma (age of onset), Age of onset of childhood onset asthma N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetic Nephropathies Associate 19690890
Glomerulonephritis IGA Associate 18498720, 26871801
Glomerulonephritis IGA Stimulate 9710452
Hyperkeratosis of the palms and soles and esophageal papillomas Associate 25029323
Ichthyosis Lamellar Associate 34379845
Keratoderma Palmoplantar Associate 24207119, 27666198, 29106929, 35178744
Kidney Diseases Stimulate 18498720
Mesangial sclerosis diffuse Stimulate 18498720
Myeloproliferative Disorder Chronic with Eosinophilia Associate 9710452
Peeling skin syndrome acral type Associate 34379845