• Gene id: 221806

Gene Summary

• Gene Symbol: VWDE   Gene   UCSC   Ensembl
• Gene name: von Willebrand factor D and EGF domains
• Alternate names: von Willebrand factor D and EGF domain-containing protein,
• Gene location: 7p21.3 (12403940: 12330884)     Exons: 2     NC_000007.14

Protein Summary

• Protein general information: Q8N2E2  
  • Name: von Willebrand factor D and EGF domain containing protein
  • Length: 1590  
  • Mass: 176780
• Sequence:

  MPGGACVLVIALMFLAWGEAQECSPGGHQFLRSPYRSVRFDSWHLQQSAVQDLICDHSLSPGWYRFLILDRPAEM
  PTKCVEMNHCGTQAPIWLSLRDSETLPSPGEIKQLTACATWQFLFSTTKDCCLFQIPVSVRNCGNFSVYLLQPTQ
  GCMGYCAEAISDARLHPCGSDETETGGDCVRQLAASLPPPPAGRPEVLVELIESRLFCRCSFDVPATKNSVGFHI
  AWSRLSSQEVKEELTQETTVQAFSLLELDGINLRLGDRIFCSASVFFLENPHVQSVAIESQEFFAGFKLQPELST
  ISEDGKEYYLRIESTVPIICSEFSELDQECKISLKLKTIGQGREHLGLNLALSSCHVDLLQTSSCANGTCSHTFV
  YYTAVTDFSRDGDRVSNIVVQPIVNEDFLWNNYIPDSIQIKVKDVPTAYCYTFTDPHIITFDGRVYDNFKTGTFV
  LYKSMSRDFEVHVRQWDCRSLHYPVSCNCGFVAQEGGDIVTFDMCNGQLRESQPYLFIKSQDVTRNIKISESYLG
  RKVTIWFSSGAFIRADLGEWGMSLTIRAPSVDYRNTLGLCGTFDENPENDFHDKNGMQIDQNFNNYVAFINEWRI
  LPGKSMSDTLPVSMTSPGKPSYCSCSLDTAAYPSSEDLDSVSRSEIALGCKDLNHVSLSSLIPELDVTSEYINSD
  TLVREINKHTSPEEYNLNLFLQEKKHINLTKLGLNVQKHPGNEKEDSLQYLANKKYTQGRGSHSQEMRYNRQNRW
  KRQNFHEFPPLFAFPSLSQTDLEELTYFFPEDHAEDVQQEFFPSWPTPSGLTEYSTLTLCQETLANSSIGRLCLA
  FLGKRLDSVIEMCVKDVLLKDDLSWAEAGVALLENECEKRIVEEGKYNTEEYGTSIEDILSVLKCPNLCSGNGQC
  MEWGCACSPSFSSYDCSDSYDKAPEITELGNAGFCDVQKYNCMMVRVFGKGFKELPSIKCEVTKLQYNSSEWMPG
  EPIYTQTVFHNSRAVDCQLPTDVQQFDTMDLVGGKPTGKWQLKVSNDGYKFSNPKITVIYDGACQVCGLYKNDSC
  TIKENVCIIDGLCYVEGDKNPTSPCLICRPKISRFTWSFLENNQPPVIQALQDKLQTFYGENFEYQFVAFDPEGS
  DIHFTLDSGPEGASVSSAGLFMWKTDLLTTQQITVRLNDDCDAETRVTIEVTVKSCDCLNGGSCVSDRNFSPGSG
  VYLCVCLPGFHGSLCEVDISGCQSNPCGLGSYISGFHSYSCDCPPELKVETQFVNQFTTQTVVLTRSDKSVNKEE
  DDKNAQGRKRHVKPTSGNAFTICKYPCGKSRECVAPNICKCKPGYIGSNCQTALCDPDCKNHGKCIKPNICQCLP
  GHGGATCDEEHCNPPCQHGGTCLAGNLCTCPYGFVGPRCETMVCNRHCENGGQCLTPDICQCKPGWYGPTCSTAL
  CDPVCLNGGSCNKPNTCLCPNGFFGEHCQNAFCHPPCKNGGHCMRNNVCVCREGYTGRRFQKSICDPTCMNGGKC
  VGPSTCSCPSGWSGKRCNTPICLQKCKNGGECIAPSICHCPSSWEGVRCQIPICNPKCLYGGRCIFPNVCSCRTE
  YSGVKCEKKIQIRRH

• Structural information:
  • Protein Domains: (424..64-)
    (/note="VWFD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00580-)
    (1177..121-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (1294..132-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:P-)
  • Interpro: IPR013032  IPR000742  IPR013783  IPR001846  
  • Prosite: PS00022 PS01186 PS50026 PS51233
  • STRING: ENSP00000275358
• Other Databases: GeneCards:  VWDE  Malacards:  VWDE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IBA	cellular component
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0009986	cell surface	IBA	cellular component
GO:0048856	anatomical structure development	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)