• Gene id: 220001

Gene Summary

• Gene Symbol: VWCE   Gene   UCSC   Ensembl
• Aliases: URG11, VWC1
• Gene name: von Willebrand factor C and EGF domains
• Alternate names: von Willebrand factor C and EGF domain-containing protein, HBV X protein up-regulated gene 11 protein, HBxAg up-regulated gene 11 protein,
• Gene location: 11q12.2 (61295315: 61258285)     Exons: 21     NC_000011.10
• OMIM: 165260

Protein Summary

• Protein general information: Q96DN2  
  • Name: von Willebrand factor C and EGF domain containing protein (HBV X protein up regulated gene 11 protein) (HBxAg up regulated gene 11 protein)
  • Length: 955  
  • Mass: 99915
  • Tissue specificity: Expressed in liver. {ECO
• Sequence:

  MWAGLLLRAACVALLLPGAPARGYTGRKPPGHFAAERRRLGPHVCLSGFGSGCCPGWAPSMGGGHCTLPLCSFGC
  GSGICIAPNVCSCQDGEQGATCPETHGPCGEYGCDLTCNHGGCQEVARVCPVGFSMTETAVGIRCTDIDECVTSS
  CEGHCVNTEGGFVCECGPGMQLSADRHSCQDTDECLGTPCQQRCKNSIGSYKCSCRTGFHLHGNRHSCVDVNECR
  RPLERRVCHHSCHNTVGSFLCTCRPGFRLRADRVSCEAFPKAVLAPSAILQPRQHPSKMLLLLPEAGRPALSPGH
  SPPSGAPGPPAGVRTTRLPSPTPRLPTSSPSAPVWLLSTLLATPVPTASLLGNLRPPSLLQGEVMGTPSSPRGPE
  SPRLAAGPSPCWHLGAMHESRSRWTEPGCSQCWCEDGKVTCEKVRCEAACSHPIPSRDGGCCPSCTGCFHSGVVR
  AEGDVFSPPNENCTVCVCLAGNVSCISPECPSGPCQTPPQTDCCTCVPVRCYFHGRWYADGAVFSGGGDECTTCV
  CQNGEVECSFMPCPELACPREEWRLGPGQCCFTCQEPTPSTGCSLDDNGVEFPIGQIWSPGDPCELCICQADGSV
  SCKRTDCVDSCPHPIRIPGQCCPDCSAGCTYTGRIFYNNETFPSVLDPCLSCICLLGSVACSPVDCPITCTYPFH
  PDGECCPVCRDCNYEGRKVANGQVFTLDDEPCTRCTCQLGEVSCEKVPCQRACADPALLPGDCCSSCPDSLSPLE
  EKQGLSPHGNVAFSKAGRSLHGDTEAPVNCSSCPGPPTASPSRPVLHLLQLLLRTNLMKTQTLPTSPAGAHGPHS
  LALGLTATFPGEPGASPRLSPGPSTPPGAPTLPLASPGAPQPPPVTPERSFSASGAQIVSRWPPLPGTLLTEASA
  LSMMDPSPSKTPITLLGPRVLSPTTSRLSTALAATTHPGPQQPPVGASRGEESTM

• Structural information:
  • Protein Domains: (70..9-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (142..18-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (181..21-)
    (/note="EGF-like-)
    (-)
    (/evide-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR000152  IPR018097   IPR009030  IPR001007  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS01208 PS50184
  • STRING: ENSP00000334186
• Other Databases: GeneCards:  VWCE  Malacards:  VWCE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0098586	cellular response to virus	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0098586	cellular response to virus	IEP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq