SERPINB7 (serpin family B member 7)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8710
Gene name Serpin family B member 7
Gene symbol SERPINB7
Synonyms (NCBI Gene)
MEGSINPPKNTP55
Chromosome 18
Chromosome location 18q21.33
Summary 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.
4
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.
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603357 13902 ENSG00000166396
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Palmoplantar keratoderma, Nagashima type Pathogenic rs534014297, rs142859678, rs797044479, rs577442939, rs199555021, rs672601344 RCV001807885
RCV000088682
RCV000088683
RCV000088684
RCV001784959
RCV000144910
Palmoplantar keratodermas Pathogenic rs142859678 RCV006250218
SERPINB7-related disorder Pathogenic; Likely pathogenic rs142859678, rs1049876333 RCV003415873
RCV003961659
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant lymphoma, large B-cell, diffuse Benign rs2658459 RCV005922097
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease 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