ENSG00000167711


Homo sapiens

Features
Gene ID: ENSG00000167711
  
Biological name :SERPINF2
  
Synonyms : P08697 / SERPINF2 / serpin family F member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: p13.3
Gene start: 1742836
Gene end: 1755268
  
Corresponding Affymetrix probe sets: 205075_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000403877
Ensembl peptide - ENSP00000371493
Ensembl peptide - ENSP00000402056
Ensembl peptide - ENSP00000402286
Ensembl peptide - ENSP00000321853
NCBI entrez gene - 5345     See in Manteia.
OMIM - 613168
RefSeq - XM_017024765
RefSeq - NM_000934
RefSeq - NM_001165920
RefSeq - NM_001165921
RefSeq - XM_005256701
RefSeq Peptide - NP_000925
RefSeq Peptide - NP_001159392
RefSeq Peptide - NP_001159393
swissprot - C9JPV4
swissprot - P08697
swissprot - C9JMH6
Ensembl - ENSG00000167711
  
Related genetic diseases (OMIM): 262850 - Alpha-2-plasmin inhibitor deficiency, 262850
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
 serpinf2aENSDARG00000076448Danio rerio
 serpinf2bENSDARG00000061383Danio rerio
 SERPINF2ENSGALG00000002987Gallus gallus
 Q61247ENSMUSG00000038224Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P05155 / SERPING1 / serpin family G member 1ENSG0000014913125
P36955 / SERPINF1 / serpin family F member 1ENSG0000013238623


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR033833  Alpha2-antiplasmin
 IPR036186  Serpin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002034 regulation of blood vessel diameter by renin-angiotensin IEA
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006953 acute-phase response IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010757 negative regulation of plasminogen activation IDA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0030199 collagen fibril organization IEA
 biological_processGO:0032967 positive regulation of collagen biosynthetic process IEA
 biological_processGO:0042730 fibrinolysis TAS
 biological_processGO:0045597 positive regulation of cell differentiation IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046330 positive regulation of JNK cascade IDA
 biological_processGO:0048514 blood vessel morphogenesis IEA
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IEA
 biological_processGO:0051496 positive regulation of stress fiber assembly IDA
 biological_processGO:0051918 negative regulation of fibrinolysis IDA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IDA
 biological_processGO:0071636 positive regulation of transforming growth factor beta production IDA
 biological_processGO:2000049 positive regulation of cell-cell adhesion mediated by cadherin TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005577 fibrinogen complex IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0004866 endopeptidase inhibitor activity TAS
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030414 peptidase inhibitor activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
Dissolution of Fibrin Clot


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:0000225 Gingival bleeding 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000978 Ecchymoses 
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 HP:0001934 Persistent bleeding after trauma 
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 HP:0002170 Intracranial hemorrhage "A hemorrhage (bleeding) occuring within the skull." [HPO:curators]
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 HP:0002653 Bone pain 
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 HP:0005261 Joint hemorrhage 
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 HP:0011884 Abnormal umbilical stump bleeding "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth." [DDD:akelly]
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 HP:0012151 Hemothorax "The presence of blood in the pleural space." [HPO:probinson]
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 HP:0012233 Intramuscular hematoma "Blood clot formed within muscle tissue following leakage of blood into the tissue." [HPO:probinson]
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 HP:0040247 Reduced euglobulin clot lysis time "Clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000122194 PLG / P00747 / plasminogen  / complex / reaction






 

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