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WFDC12 WAP four-disulfide core domain 12 [ Homo sapiens (human) ]

Gene ID: 128488, updated on 24-Nov-2020

Summary

Official Symbol
WFDC12provided by HGNC
Official Full Name
WAP four-disulfide core domain 12provided by HGNC
Primary source
HGNC:HGNC:16115
See related
Ensembl:ENSG00000168703 MIM:609872
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
WAP2; SWAM2; C20orf122; dJ211D12.4
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. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]
Expression
Biased expression in skin (RPKM 13.5) and esophagus (RPKM 0.8) See more
Orthologs

Genomic context

See WFDC12 in Genome Data Viewer
Location:
20q13.12
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45123425..45124465, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43752067..43753106, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel modifier subfamily S member 1 Neighboring gene WAP four-disulfide core domain 5 Neighboring gene uncharacterized LOC101929863 Neighboring gene peptidase inhibitor 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
antibacterial humoral response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to bacterium ISS
Inferred from Sequence or Structural Similarity
more info
 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
WAP four-disulfide core domain protein 12
Names
protease inhibitor WAP2
putative protease inhibitor WAP12
single WAP motif protein 2
whey acidic protein 2

NCBI Reference Sequences (RefSeq)

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)

  1. NM_080869.2NP_543145.1  WAP four-disulfide core domain protein 12 precursor

    See identical proteins and their annotated locations for NP_543145.1

    Status: REVIEWED

    Source sequence(s)
    AY037803, Z93016
    Consensus CDS
    CCDS13343.1
    UniProtKB/Swiss-Prot
    Q8WWY7
    Related
    ENSP00000361871.3, ENST00000372785.3
    Conserved Domains (1) summary
    pfam00095
    Location:3273
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    45123425..45124465 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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