WFDC8 WAP four-disulfide core domain 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WFDC8provided by HGNC
Official Full Name: WAP four-disulfide core domain 8provided by HGNC
Primary source: HGNC:HGNC:16163
See related: Ensembl:ENSG00000158901 AllianceGenome:HGNC:16163
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: WAP8; C20orf170; HEL-S-292; dJ461P17.1
Summary: This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45551152..45579284, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47287009..47315139, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44179791..44207923, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We propose that the evolution of WFDC8 and SPINT4 has been shaped by complex selective scenarios due to the interdependence of variant fitness and ecological variables.
Title: Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans.

Submit: New GeneRIF Correction

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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Markers

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:494709

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of peptidase activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: WAP four-disulfide core domain protein 8

Names: WAP motif protein 1; epididymis secretory protein Li 292; epididymis secretory sperm binding protein; protease inhibitor WAP8; putative protease inhibitor WAP8; testicular secretory protein Li 68

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_130896.3 → NP_570966.2 WAP four-disulfide core domain protein 8 precursor

See identical proteins and their annotated locations for NP_570966.2

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the shorter transcript.

Source sequence(s)

AL031663, AL121778

Consensus CDS

CCDS13361.1

UniProtKB/Swiss-Prot

E1P623, Q5TDV2, Q8IUA0, Q96A34

UniProtKB/TrEMBL

A0A0K0K1J0, A0A140VK68

Related

ENSP00000289953.2, ENST00000289953.3

Conserved Domains (3) summary

smart00131
Location:93 → 145

KU; BPTI/Kunitz family of serine protease inhibitors

pfam00095
Location:49 → 90

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

cl00156
Location:149 → 190

WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...
NM_181510.3 → NP_852611.2 WAP four-disulfide core domain protein 8 precursor

See identical proteins and their annotated locations for NP_852611.2

Status: REVIEWED

Description

Transcript Variant: This variant (b) has an alternate 3' UTR and represents the longer transcript, as compared to variant a.

Source sequence(s)

AL031663, AL121778

Consensus CDS

CCDS13361.1

UniProtKB/Swiss-Prot

E1P623, Q5TDV2, Q8IUA0, Q96A34

UniProtKB/TrEMBL

A0A0K0K1J0, A0A140VK68

Related

ENSP00000361735.3, ENST00000357199.8

Conserved Domains (3) summary

smart00131
Location:93 → 145

KU; BPTI/Kunitz family of serine protease inhibitors

pfam00095
Location:49 → 90

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

cl00156
Location:149 → 190

WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...