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

Gene ID: 128488, updated on 4-Jan-2025

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; AllianceGenome:HGNC:16115
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
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Genomic context

See WFDC12 in Genome Data Viewer
Location:
20q13.12
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45123425..45124465, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46859329..46860369, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43752066..43753106, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel modifier subfamily S member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43743251-43743752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43743753-43744252 Neighboring gene WAP four-disulfide core domain 5 Neighboring gene uncharacterized LOC101929863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17945 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:43803133-43804332 Neighboring gene peptidase inhibitor 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in antibacterial humoral response  
involved_in defense response to bacterium  
involved_in innate immune response  
Component Evidence Code Pubs
is_active_in extracellular space  

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)

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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)

  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
    Q5H980, Q8WWY7, Q9BR31
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    46859329..46860369 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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