• Gene id: 7450

Gene Summary

• Gene Symbol: VWF   Gene   UCSC   Ensembl
• Aliases: F8VWF, VWD
• Gene name: von Willebrand factor
• Alternate names: von Willebrand factor, coagulation factor VIII VWF,
• Gene location: 12p13.31 (6124674: 5948873)     Exons: 52     NC_000012.12
• Gene summary(Entrez): This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the t
• OMIM: 613160

Protein Summary

• Protein general information: P04275  
  • Name: von Willebrand factor (vWF) [Cleaved into: von Willebrand antigen 2 (von Willebrand antigen II)]
  • Length: 2813  
  • Mass: 309,265
  • Tissue specificity: Liver, adrenal and at lower level in the kidney. Is present in human fetus in higher level in the adrenal than the liver and the kidney.
• Sequence:

  MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYLLAGGCQKRSFSIIGD
  FQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYLETEAGYYKLSGEAYGFVARIDGSGNFQVLL
  SDRYFNKTCGLCGNFNIFAEDDFMTQEGTLTSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQC
  QLLKSTSVFARCHPLVDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGME
  YRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPGTSLSRDCNTCICRNS
  QWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQDHSFSIVIETVQCADDRDAVCTRSVTVRLPG
  LHNSLVKLKHGAGVAMDGQDVQLPLLKGDLRIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCG
  NYNGNQGDDFLTPSGLAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVS
  PLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQCGTPCNLTCRSLSYP
  DEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPEDIFSDHHTMCYCEDGFMHCTMSGVPGSLLPD
  AVLSSPLSHRSKRSLSCRPPMVKLVCPADNLRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALE
  RCPCFHQGKEYAPGETVKIGCNTCVCQDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGS
  NPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGRYIILLLGKALSVVWD
  RHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVDFGNSWKVSSQCADTRKVPLDSSPATCHNNI
  MKQTMVDSSCRILTSDVFQDCNKLVDPEPYLDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATL
  CPQSCEERNLRENGYECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCE
  VAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVEDISEPPLHDFYCSRL
  LDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIGLKDRKRPSELRRIASQVKYA
  GSQVASTSEVLKYTLFQIFSKIDRPEASRITLLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQI
  RLIEKQAPENKAFVLSSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVA
  FVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGDILQRVREIRYQGGNR
  TNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLPGDIQVVPIGVGPNANVQELERIGWPNAPIL
  IQDFETLPREAPDLVLQRCCSGEGLQIPTLSPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGP
  RLTQVSVLQYGSITTIDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILV
  TDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTMVTLGNSFLHKLCSGF
  VRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCDRGLRPSCPNSQSPVKVEETCGCRWTCPCVC
  TGSSTRHIVTFDGQNFKLTGSCSYVLFQNKEQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVN
  GRLVSVPYVGGNMEVNVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRD
  GTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFYAICQQDSCHQEQVCE
  VIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHCDGNVSSCGDHPSEGCFCPPDKVMLEGSCVP
  EEACTQCIGEDGVQHQFLEAWVPDHQPCQICTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYEC
  VCDPVSCDLPPVPHCERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVN
  STVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAVMGLRVAQCSQKPCED
  SCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRNVSCP
  QLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCN
  PCPLGYKEENNTGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHK
  CLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMYSIDINDVQDQCSCCS
  PTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK

• Structural information:
  • Protein Domains: VWFD (34-240)
    TIL (295-348)
    VWFD (387-598)
    TIL (652-707)
    TIL (776-827)
    VWFD (866-1074)
  • Interpro: IPR006207  IPR036084  IPR002919  IPR014853  IPR037578   IPR032361  IPR002035  IPR001007  IPR001846  IPR036465  
  • Prosite: PS01185 PS01225 PS50234 PS01208 PS50184 PS51233
  • PDB: 1AO3 1ATZ 1AUQ 1FE8 1FNS 1IJB 1IJK 1M10 1OAK 1SQ0 1U0N 1UEX 2ADF 2MHP 2MHQ 3GXB 3HXO 3HXQ 3PPV 3PPW 3PPX 3PPY 3ZQK 4C29 4C2A 4C2B 4DMU 4NT5 5BV8
  • PDBsum: 1AO3 1ATZ 1AUQ 1FE8 1FNS 1IJB 1IJK 1M10 1OAK 1SQ0 1U0N 1UEX 2ADF 2MHP 2MHQ 3GXB 3HXO 3HXQ 3PPV 3PPW 3PPX 3PPY 3ZQK 4C29 4C2A 4C2B 4DMU 4NT5 5BV8
  • DIP: 29667
  • STRING: ENSP00000261405
• Other Databases: GeneCards:  VWF  Malacards:  VWF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001948	glycoprotein binding	IDA	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IDA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0005178	integrin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0007155	cell adhesion	IDA	biological process
GO:0007596	blood coagulation	IMP	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0007599	hemostasis	IMP	biological process
GO:0009611	response to wounding	TAS	biological process
GO:0019865	immunoglobulin binding	IDA	molecular function
GO:0030168	platelet activation	NAS	biological process
GO:0030168	platelet activation	IDA	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031091	platelet alpha granule	NAS	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0031589	cell-substrate adhesion	IDA	biological process
GO:0033093	Weibel-Palade body	IDA	cellular component
GO:0033093	Weibel-Palade body	IDA	cellular component
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0051087	chaperone binding	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001948	glycoprotein binding	IDA	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IDA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0005178	integrin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	IDA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007596	blood coagulation	IMP	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0007599	hemostasis	IMP	biological process
GO:0009611	response to wounding	TAS	biological process
GO:0019865	immunoglobulin binding	IDA	molecular function
GO:0030168	platelet activation	IEA	biological process
GO:0030168	platelet activation	NAS	biological process
GO:0030168	platelet activation	IDA	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031091	platelet alpha granule	NAS	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0031589	cell-substrate adhesion	IDA	biological process
GO:0033093	Weibel-Palade body	IDA	cellular component
GO:0033093	Weibel-Palade body	IDA	cellular component
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0051087	chaperone binding	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001948	glycoprotein binding	IDA	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IDA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0005178	integrin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0007155	cell adhesion	IDA	biological process
GO:0007596	blood coagulation	IMP	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0007599	hemostasis	IMP	biological process
GO:0009611	response to wounding	TAS	biological process
GO:0019865	immunoglobulin binding	IDA	molecular function
GO:0030168	platelet activation	NAS	biological process
GO:0030168	platelet activation	IDA	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031091	platelet alpha granule	NAS	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0031589	cell-substrate adhesion	IDA	biological process
GO:0033093	Weibel-Palade body	IDA	cellular component
GO:0033093	Weibel-Palade body	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0051087	chaperone binding	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04512	ECM-receptor interaction
hsa04510	Focal adhesion
hsa04610	Complement and coagulation cascades
hsa04611	Platelet activation
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Cancer (thyroid)	GAD: 19730683
Atherosclerosis	GAD: 12792699
Brain ischemia	GAD: 18622144
Cardiovascular disease	GAD: 14717782
Hypertension	GAD: 18724972
Thromboembolism	GAD: 15735796
Thrombosis	GAD: 11722428
Cushing's syndrome	GAD: 18173757
Hyperparathyroidism	GAD: 20424473
Retinopathy	GAD: 12381897
Hemorrhage	GAD: 18521502
Von willebrand disease	GAD: 16424652
Von willebrand disease	GAD: 12649144
Von willebrand disease	GAD: 11529461
Hemophilia	KEGG: H00219
Diabetes	GAD: 12381897
Stroke	GAD: 11755948
Alzheimer's disease	GAD: 19141999
Schizophrenia	GAD: 15005754
Chronic renal failure	GAD: 21085059
Chorioamnionitis	GAD: 20452482
Polycystic ovary syndrome (PCOS)	INFBASE: 22450347
Preeclampsia	INFBASE: 19190814
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 11285978
Varicocele	MIK: 17113704
HELLP syndrome	INFBASE: 19190814
Macrothrombocytopenia	KEGG: H01740
Nephropathy	GAD: 10760079
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Varicocele	MIK: 17113704

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17113704	Varicocele			60 (20 varicocele patients, 40 normal spermatic cords)	Male infertility	VWF NF-200
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R