ENSG00000166396


Homo sapiens

Features
Gene ID: ENSG00000166396
  
Biological name :SERPINB7
  
Synonyms : O75635 / SERPINB7 / serpin family B member 7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q21.33
Gene start: 63752935
Gene end: 63805376
  
Corresponding Affymetrix probe sets: 206421_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000393947
Ensembl peptide - ENSP00000397301
Ensembl peptide - ENSP00000444861
Ensembl peptide - ENSP00000444572
Ensembl peptide - ENSP00000402362
Ensembl peptide - ENSP00000337212
Ensembl peptide - ENSP00000381101
NCBI entrez gene - 8710     See in Manteia.
OMIM - 603357
RefSeq - NM_001261830
RefSeq - NM_001261831
RefSeq - NM_003784
RefSeq - NM_001040147
RefSeq Peptide - NP_001035237
RefSeq Peptide - NP_001248760
RefSeq Peptide - NP_003775
RefSeq Peptide - NP_001248759
swissprot - O75635
swissprot - C9JA68
swissprot - A0A1B0GX82
swissprot - C9JM00
Ensembl - ENSG00000166396
  
Related genetic diseases (OMIM): 615598 - Palmoplantar keratoderma, Nagashima type, 615598
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 OVALENSGALG00000012869Gallus gallus
 OVALXENSGALG00000043252Gallus gallus
 OVALYENSGALG00000019551Gallus gallus
 Q9D695ENSMUSG00000067001Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96P63 / SERPINB12 / serpin family B member 12ENSG0000016663441
P01008 / SERPINC1 / serpin family C member 1ENSG0000011760134
Q96P15 / SERPINB11 / serpin family B member 11 (gene/pseudogene)ENSG0000020607233
Q99574 / SERPINI1 / serpin family I member 1ENSG0000016353629
O75830 / SERPINI2 / serpin family I member 2ENSG0000011420428
P05121 / SERPINE1 / serpin family E member 1ENSG0000010636627
P07093 / SERPINE2 / serpin family E member 2ENSG0000013591927
A8MV23 / SERPINE3 / serpin family E member 3ENSG0000025330925
P50454 / SERPINH1 / serpin family H member 1ENSG0000014925724


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR036186  Serpin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0032914 positive regulation of transforming growth factor beta1 production IEA
 biological_processGO:0032967 positive regulation of collagen biosynthetic process IEA
 biological_processGO:0072126 positive regulation of glomerular mesangial cell proliferation IEA
 biological_processGO:0090362 positive regulation of platelet-derived growth factor production IEA
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity TAS
 molecular_functionGO:0030414 peptidase inhibitor activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0007410 Palmoplantar hyperhidrosis 
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 HP:0025080 Orthokeratotic hyperkeratosis "A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei." []
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 HP:0025092 Epidermal acanthosis "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
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 HP:0025114 Hypergranulosis "Hypergranulosis is an increased thickness of the stratum granulosum." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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