• Gene id: 117166

Gene Summary

• Gene Symbol: WFIKKN1   Gene   UCSC   Ensembl
• Aliases: C16orf12, RJD2, WFDC20A, WFIKKN
• Gene name: WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
• Alternate names: WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1, GASP-2, WAP four-disulfide core domain 20A, WAP, FS, Ig, KU, and NTR-containing protein, WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing protein, growth and differentiat,
• Gene location: 16p13.3 (630984: 634116)     Exons: 2     NC_000016.10
• Gene summary(Entrez): This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of var
• OMIM: 114160

Protein Summary

• Protein general information: Q96NZ8  
  • Name: WAP, Kazal, immunoglobulin, Kunitz and NTR domain containing protein 1 (Growth and differentiation factor associated serum protein 2) (GASP 2) (hGASP 2) (WAP, follistatin, immunoglobulin, Kunitz and NTR domain containing protein)
  • Length: 548  
  • Mass: 58798
  • Tissue specificity: Expressed in pancreas, kidney, liver, placenta, and lung.
• Sequence:

  MPALRPLLPLLLLLRLTSGAGLLPGLGSHPGVCPNQLSPNLWVDAQSTCERECSRDQDCAAAEKCCINVCGLHSC
  VAARFPGSPAAPTTAASCEGFVCPQQGSDCDIWDGQPVCRCRDRCEKEPSFTCASDGLTYYNRCYMDAEACLRGL
  HLHIVPCKHVLSWPPSSPGPPETTARPTPGAAPVPPALYSSPSPQAVQVGGTASLHCDVSGRPPPAVTWEKQSHQ
  RENLIMRPDQMYGNVVVTSIGQLVLYNARPEDAGLYTCTARNAAGLLRADFPLSVVQREPARDAAPSIPAPAECL
  PDVQACTGPTSPHLVLWHYDPQRGGCMTFPARGCDGAARGFETYEACQQACARGPGDACVLPAVQGPCRGWEPRW
  AYSPLLQQCHPFVYGGCEGNGNNFHSRESCEDACPVPRTPPCRACRLRSKLALSLCRSDFAIVGRLTEVLEEPEA
  AGGIARVALEDVLKDDKMGLKFLGTKYLEVTLSGMDWACPCPNMTAGDGPLVIMGEVRDGVAVLDAGSYVRAASE
  KRVKKILELLEKQACELLNRFQD

• Structural information:
  • Protein Domains: (26..7-)
    (/note="WAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00722-)
    (108..15-)
    (/note="Kazal-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00798-)
    (186..27-)
    (/note="Ig-like-C2-type)
    (299..35-)
    (/note="BPTI/Kunitz-inhibi)
  • Interpro: IPR036645  IPR007110  IPR036179  IPR013783  IPR003599   IPR003598  IPR002350  IPR036058  IPR002223  IPR036880  IPR001134  IPR020901  IPR008993  IPR008197  IPR033638  
  • Prosite: PS00280 PS50279 PS50835 PS51465 PS50189 PS51390
  • CDD: cd00109
  • PDB: 2DDI 2DDJ
  • PDBsum: 2DDI 2DDJ
  • STRING: ENSP00000324763
• Other Databases: GeneCards:  WFIKKN1  Malacards:  WFIKKN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0048019	receptor antagonist activity	IBA	molecular function
GO:0050431	transforming growth factor beta binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004857	enzyme inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008191	metalloendopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032091	negative regulation of protein binding	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0001501	skeletal system development	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0048747	muscle fiber development	IEA	biological process
GO:0043392	negative regulation of DNA binding	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:2000272	negative regulation of signaling receptor activity	IEA	biological process
GO:2000272	negative regulation of signaling receptor activity	IEA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0048019	receptor antagonist activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray