WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WFIKKN2provided by HGNC
Official Full Name: WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2provided by HGNC
Primary source: HGNC:HGNC:30916
See related: Ensembl:ENSG00000173714 MIM:610895; AllianceGenome:HGNC:30916
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GASP-1; WFDC20B; hGASP-1; WFIKKNRP
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, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]
Expression: Biased expression in ovary (RPKM 30.8) and testis (RPKM 1.8) See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50834584..50842353)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (51701726..51709488)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48911945..48919714)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In this review, we summarize current knowledge about the WFIKKN proteins and propose that they are "companion" proteins for various growth factors by providing localized and sustained presentation of TGFB proteins to their respective receptors, thus regulating the balance between the activation of Smad and non-Smad pathways by TGFB.
Title: WFIKKN1 and WFIKKN2: "Companion" proteins regulating TGFB activity.
WFIKKN2 expression is significantly downregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
Data suggest that myostatin binding to its receptor (activin receptors type II) can be blocked by WFIKKN1 but not WFIKKN2; various forms of myostatin (promyostatin, myostatin pro-domain, and latent/processed myostatin) bind WFIKKN1 but not WFIKKN2.
Title: Latent myostatin has significant activity and this activity is controlled more efficiently by WFIKKN1 than by WFIKKN2.
After eccentric exercise, postmenopausal women not using hormone therapy (HT) expressed higher levels of GASP-1 while postmenopausal women using HT showed a significant increased expression over controls.
Title: Hormone therapy and maximal eccentric exercise alters myostatin-related gene expression in postmenopausal women.
data indicate that WFIKKN proteins are antagonists of GDF8 and GDF11, but in the case of TGFbeta1, BMP2 and BMP4 they function as growth factor binding proteins
Title: WFIKKN1 and WFIKKN2 bind growth factors TGFβ1, BMP2 and BMP4 but do not inhibit their signalling activity.
Creatine supplementation in conjunction with resistance training lead to greater decreases in serum myostatin (p<0.05), but had not additional effect on GASP-1 (p>0.05).
Title: Effects of oral creatine and resistance training on serum myostatin and GASP-1.
Both WFIKKN1 and WFIKKN2 have high affinity for growth and differentiation factors 8 and 11.
Title: Both WFIKKN1 and WFIKKN2 have high affinity for growth and differentiation factors 8 and 11.
Newly discovered WFIKKNPR gene structure and tissue distribution of gene expression is commpared with that of the WFIKKN gene in adult and fetal tissues and organs
Title: Distinct expression pattern of two related human proteins containing multiple types of protease-inhibitory modules.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor antagonist activity	IBA Inferred from Biological aspect of Ancestor more info
enables receptor antagonist activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2

Names: 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 protein; growth and differentiation factor-associated serum protein 1; multivalent protease inhibitor protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001330341.2 → NP_001317270.1 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 isoform 2

Status: REVIEWED

Source sequence(s)

AC091062, AK298172, AY358142, BG197394

Consensus CDS

CCDS82159.1

UniProtKB/TrEMBL

B2R731, C9J6G4

Related

ENSP00000405889.1, ENST00000426127.1
NM_175575.6 → NP_783165.1 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_783165.1

Status: REVIEWED

Source sequence(s)

AC091062, AF468657, AY358142, BG221308

Consensus CDS

CCDS11575.1

UniProtKB/Swiss-Prot

Q6UXZ9, Q8TEU8

UniProtKB/TrEMBL

B2R731

Related

ENSP00000311184.4, ENST00000311378.5

Conserved Domains (6) summary

cd05765
Location:224 → 304

Ig_3; Subgroup of the immunoglobulin (Ig) superfamily

cd00104
Location:138 → 174

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

cd03575
Location:455 → 563

NTR_WFIKKN; NTR domain, WFIKKN subfamily; WFIKKN proteins contain a C-terminal NTR domain and are putative secreted proteins which may be multivalent protease inhibitors that act on serine proteases as well as metalloproteases. Human WFIKKN and a related protein ...

pfam07679
Location:216 → 304

I-set; Immunoglobulin I-set domain

pfam00014
Location:385 → 436

Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

pfam00095
Location:44 → 90

WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'