ENSG00000110799


Homo sapiens

Features
Gene ID: ENSG00000110799
  
Biological name :VWF
  
Synonyms : P04275 / von Willebrand factor / VWF
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p13.31
Gene start: 5948874
Gene end: 6124770
  
Corresponding Affymetrix probe sets: 202112_at (Human Genome U133 Plus 2.0 Array)   233980_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000461331
Ensembl peptide - ENSP00000261405
Ensembl peptide - ENSP00000459134
NCBI entrez gene - 7450     See in Manteia.
OMIM - 613160
RefSeq - NM_000552
RefSeq Peptide - NP_000543
swissprot - I3L4K4
swissprot - P04275
Ensembl - ENSG00000110799
  
Related genetic diseases (OMIM): 193400 - von Willebrand disease, type 1, 193400
  277480 - von Willibrand disease, type 3, 277480
  613554 - von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554
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
 vwfENSDARG00000077231Danio rerio
 VWFENSGALG00000017272Gallus gallus
 VwfENSMUSG00000001930Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MUC5B / Q9HC84 / mucin 5B, oligomeric mucus/gel-formingENSG0000011798325
MUC5AC / P98088 / mucin 5AC, oligomeric mucus/gel-formingENSG0000021518225
SSPO / SCO-spondinENSG0000019755824
OTOG / Q6ZRI0 / otogelinENSG0000018816222
OTOGL / Q3ZCN5 / otogelin likeENSG0000016589920
MUC6 / Q6W4X9 / mucin 6, oligomeric mucus/gel-formingENSG0000018495615
FCGBP / Fc fragment of IgG binding proteinENSG0000027539515
ZAN / zonadhesin (gene/pseudogene)ENSG0000014683914
TECTA / O75443 / tectorin alphaENSG0000010992713


Protein motifs (from Interpro)
Interpro ID Name
 IPR001007  VWFC domain
 IPR001846  von Willebrand factor, type D domain
 IPR002035  von Willebrand factor, type A
 IPR002919  Trypsin Inhibitor-like, cysteine rich domain
 IPR006207  Cystine knot, C-terminal
 IPR014853  Uncharacterised domain, cysteine-rich
 IPR032361  von Willebrand factor, VWA N-terminal domain
 IPR036084  Serine protease inhibitor-like superfamily
 IPR036465  von Willebrand factor A-like domain superfamily
 IPR037578  Von Willebrand factor-related


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0007597 blood coagulation, intrinsic pathway TAS
 biological_processGO:0007599 hemostasis IMP
 biological_processGO:0009611 response to wounding TAS
 biological_processGO:0030168 platelet activation NAS
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0031589 cell-substrate adhesion IDA
 biological_processGO:0051260 protein homooligomerization IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0031012 extracellular matrix HDA
 cellular_componentGO:0031091 platelet alpha granule NAS
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0033093 Weibel-Palade body IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0002020 protease binding IDA
 molecular_functionGO:0005178 integrin binding IPI
 molecular_functionGO:0005515 protein binding IDA
 molecular_functionGO:0005518 collagen binding IDA
 molecular_functionGO:0019865 immunoglobulin binding IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0047485 protein N-terminus binding IPI
 molecular_functionGO:0051087 chaperone binding IDA


Pathways (from Reactome)
Pathway description
Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Integrin cell surface interactions
Integrin alphaIIb beta3 signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
GP1b-IX-V activation signalling
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by RAS mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 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:0000119 Genitourinary abnormality "The presence of any abnormality of the genitourinary system." [HPO:curators]
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 HP:0000132 Menorrhagia 
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 HP:0000421 Epistaxis 
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 HP:0000471 Gastrointestinal angiodysplasia 
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 HP:0000978 Ecchymoses 
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 HP:0001634 Mitral valve prolapse 
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 HP:0001650 Aortic stenosis "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001934 Persistent bleeding after trauma 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0003010 Prolonged bleeding time 
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 HP:0003125 Factor VIII deficiency 
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 HP:0003540 Abnormal platelet aggregation 
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 HP:0003828 Variable expressivity 
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 HP:0003829 Incomplete penetrance 
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 HP:0005261 Joint hemorrhage 
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 HP:0005542 Whole-blood clotting time prolonged 
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 HP:0008330 Decreased von Willebrand factor 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000050820 BCAR1 / P56945 / BCAR1, Cas family scaffolding protein  / complex / reaction
 ENSG00000035403 VCL / P18206 / vinculin  / complex
 ENSG00000103653 CSK / P41240 / C-terminal Src kinase  / reaction / complex
 ENSG00000127314 RAP1B / P61224 / RAP1B, member of RAS oncogene family  / complex / reaction
 ENSG00000138448 ITGAV / P06756 / integrin subunit alpha V  / complex / reaction
 ENSG00000110799 VWF / P04275 / von Willebrand factor  / - / complex
 ENSG00000005961 ITGA2B / P08514 / integrin subunit alpha 2b  / complex / reaction
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / complex / reaction
 ENSG00000185010 F8 / P00451 / coagulation factor VIII  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000137076 TLN1 / Q9Y490 / talin 1  / complex / reaction
 ENSG00000116473 RAP1A / P62834 / RAP1A, member of RAS oncogene family  / complex / reaction
 ENSG00000164924 YWHAZ / P63104 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta  / complex / reaction
 ENSG00000077420 Q7Z5R6 / APBB1IP / amyloid beta precursor protein binding family B member 1 interacting protein  / complex / reaction
 ENSG00000196924 FLNA / P21333 / filamin A  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000259207 ITGB3 / P05106 / integrin subunit beta 3  / complex / reaction
 ENSG00000169704 GP9 / P14770 / glycoprotein IX platelet  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000185245 GP1BA / P07359 / glycoprotein Ib platelet alpha subunit  / complex / reaction
 ENSG00000169398 PTK2 / Q05397 / protein tyrosine kinase 2  / complex / reaction
 ENSG00000203618 GP1BB / P13224 / glycoprotein Ib platelet beta subunit  / complex / reaction
 ENSG00000196396 PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1  / reaction
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / complex / reaction
 ENSG00000178732 GP5 / P40197 / glycoprotein V platelet  / complex / reaction






 

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