Gene Gene information from NCBI Gene database.
Entrez ID 124857
Gene name WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2
Gene symbol WFIKKN2
Synonyms (NCBI Gene)
GASP-1WFDC20BWFIKKNRPhGASP-1
Chromosome 17
Chromosome location 17q21.33
Summary 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
miRNA miRNA information provided by mirtarbase database.
73
miRTarBase ID miRNA Experiments Reference
MIRT459076 hsa-miR-3200-5p PAR-CLIP 23592263
MIRT459075 hsa-miR-3150b-3p PAR-CLIP 23592263
MIRT459074 hsa-miR-4784 PAR-CLIP 23592263
MIRT459073 hsa-miR-3184-5p PAR-CLIP 23592263
MIRT459072 hsa-miR-423-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0004857 Function Enzyme inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 18596030
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610895 30916 ENSG00000173714
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TEU8
Protein 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
Protein function Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity). {ECO:0000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00095 WAP 42 91 Domain
PF07679 I-set 210 304 Immunoglobulin I-set domain Domain
PF00014 Kunitz_BPTI 327 379 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
PF00014 Kunitz_BPTI 385 437 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
PF01759 NTR 456 562 UNC-6/NTR/C345C module Domain
Tissue specificity 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:0000269|PubMed:11928817}.
Sequence
Sequence length 576
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations