• Gene id: 146177

Gene Summary

• Gene Symbol: VWA3A   Gene   UCSC   Ensembl
• Gene name: von Willebrand factor A domain containing 3A
• Alternate names: von Willebrand factor A domain-containing protein 3A,
• Gene location: 16p12.2 (22091928: 22156965)     Exons: 39     NC_000016.10
• OMIM: 600826

Protein Summary

• Protein general information: A6NCI4  
  • Name: von Willebrand factor A domain containing protein 3A
  • Length: 1184  
  • Mass: 134020
• Sequence:

  MKKYRKISIGCFAMATQTSHVFHGQENMFLENHCIRRNTGRDSKKPLKQKNMNGLGQNSDNGLLVTHVNQTQDLL
  RLQGSETQSSDWEDSEDWLSAHSLKCQKLTLADLISQGTEVLEEGTNVVQKICFSTQIIRHFESKLSDTIEVYQE
  RIQWLTENSKKAFGLIKGARVSILIDVSAISSGPQKEEFQKDLMSLIDEQLSHKEKLFVLSFGTNAGSLWPDPME
  VSASTLQELKLWVKTLQPDGGSNLLQALKKIFTLKGLDSLVAIMRSCPDQPSEILSDYIQQSTMGRDLIIHFITY
  RCDDQMPPAVLKNLAEAVRGYYHCYSPKMEHYTSRDMDELLAEIQKAQSLLSHVQALQHSSPCEALTCTMEEIST
  EITNGPLISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTI
  HEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMY
  IIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVD
  FKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEV
  TRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKK
  LCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPAAAQPTKEGMMELRRKTKSREAETSLLLFYT
  EKGNDVGSVYKKYPQGRGLRRTSSSIDLPRKDTVCSSQEWVAKYGLKKLKLEISRCMGPNCTHQKSGQRSASAKH
  CSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQ
  QVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHD
  LEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHS
  LLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS

• Structural information:
  • Protein Domains: (511..70-)
    (/note="VWFA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (959..113-)
    (/note="VWFA-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR002035  IPR036465  
  • Prosite: PS50234
  • STRING: ENSP00000374049
• Other Databases: GeneCards:  VWA3A  Malacards:  VWA3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq