• Gene id: 124857

Gene Summary

• Gene Symbol: WFIKKN2   Gene   UCSC   Ensembl
• Aliases: GASP-1, WFDC20B, WFIKKNRP, hGASP-1
• Gene name: WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2
• Alternate names: WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2, WAP four-disulfide core domain 20B, WAP, FS, Ig, two KU and NTR module related protein, WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing-related protein, WFIKKN-related ,
• Gene location: 17q21.33 (50834583: 50842352)     Exons: 3     NC_000017.11
• Gene summary(Entrez): The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, fo
• OMIM: 601490

Protein Summary

• Protein general information: Q8TEU8  
  • Name: WAP, Kazal, immunoglobulin, Kunitz and NTR domain containing protein 2 (Growth and differentiation factor associated serum protein 1) (GASP 1) (hGASP 1) (WAP, follistatin, immunoglobulin, Kunitz and NTR domain containing related protein) (WFIKKN related p
  • Length: 576  
  • Mass: 63941
  • Tissue specificity: Primarily expressed in ovary, testis and brain, but not in liver. In fetal tissues, it is primarily expressed in brain, skeletal muscle, thymus and kidney. {ECO
• Sequence:

  MWAPRCRRFWSRWEQVAALLLLLLLLGVPPRSLALPPIRYSHAGICPNDMNPNLWVDAQSTCRRECETDQECETY
  EKCCPNVCGTKSCVAARYMDVKGKKGPVGMPKEATCDHFMCLQQGSECDIWDGQPVCKCKDRCEKEPSFTCASDG
  LTYYNRCYMDAEACSKGITLAVVTCRYHFTWPNTSPPPPETTMHPTTASPETPELDMAAPALLNNPVHQSVTMGE
  TVSFLCDVVGRPRPEITWEKQLEDRENVVMRPNHVRGNVVVTNIAQLVIYNAQLQDAGIYTCTARNVAGVLRADF
  PLSVVRGHQAAATSESSPNGTAFPAAECLKPPDSEDCGEEQTRWHFDAQANNCLTFTFGHCHRNLNHFETYEACM
  LACMSGPLAACSLPALQGPCKAYAPRWAYNSQTGQCQSFVYGGCEGNGNNFESREACEESCPFPRGNQRCRACKP
  RQKLVTSFCRSDFVILGRVSELTEEPDSGRALVTVDEVLKDEKMGLKFLGQEPLEVTLLHVDWACPCPNVTVSEM
  PLIIMGEVDGGMAMLRPDSFVGASSARRVRKLREVMHKKTCDVLKEFLGLH

• Structural information:
  • Protein Domains: (39..9-)
    (/note="WAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00722-)
    (126..17-)
    (/note="Kazal-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00798-)
    (210..30-)
    (/note="Ig-like-C2-type)
    (328..37-)
    (/note="BPTI/Kunitz-inhibi)
  • Interpro: IPR036645  IPR007110  IPR036179  IPR013783  IPR013098   IPR003599  IPR003598  IPR002350  IPR036058  IPR002223  IPR036880  IPR001134  IPR018933  IPR020901  IPR008993  IPR008197  IPR033639  
  • Prosite: PS00280 PS50279 PS50835 PS51465 PS50189 PS51390
  • CDD: cd00109
  • STRING: ENSP00000311184
• Other Databases: GeneCards:  WFIKKN2  Malacards:  WFIKKN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048019	receptor antagonist activity	IBA	molecular function
GO:0050431	transforming growth factor beta binding	IBA	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IBA	biological process
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:0005576	extracellular region	IEA	cellular component
GO:0004857	enzyme inhibitor activity	IEA	molecular function
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0008191	metalloendopeptidase inhibitor activity	IEA	molecular function
GO:0032091	negative regulation of protein binding	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
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:0007179	transforming growth factor beta receptor signaling pathway	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:0005615	extracellular space	IDA	cellular component
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
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0050431	transforming growth factor beta binding	IPI	molecular function

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq