WFDC12 - WAP four-disulfide core domain 12 Gene

Also Known as WAP2; SWAM2; C20orf122; dJ211D12.4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 128488

About WFDC12

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,123,425-45,124,465 (from NCBI)

This gene has 1 transcript (splice variant), 66 orthologues and 9 paralogues. Biased expression in skin (RPKM 13.5) and esophagus (RPKM 0.8).

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]

WFDC12 Products (1)

mRNA Protein Name
NM_080869.2 NP_543145.1 WAP four-disulfide core domain protein 12 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WFDC12 Protein Structure

WAP

WAP: WAP-type (Whey Acidic Protein) 'four-disulfide core' (30 - 73)

  • 0
  • 100
  • 111 a.a.
Protein Preferred Names Protein Names

WAP four-disulfide core domain protein 12

  • protease inhibitor WAP2

WFDC12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
WFDC12 Q8WWY7 SLC39A7 Homo sapiens Q92504 32296183
Intra
WFDC12 Q8WWY7 SGTA Homo sapiens O43765 32296183
Intra
WFDC12 Q8WWY7 SGTA Homo sapiens O43765 32296183
Intra
WFDC12 Q8WWY7 UBQLN1 Homo sapiens Q9UMX0 32296183
Intra
WFDC12 Q8WWY7 SGTB Homo sapiens Q96EQ0 32296183
Intra
WFDC12 Q8WWY7 SGTB Homo sapiens Q96EQ0 32296183
Intra
WFDC12 Q8WWY7 SGTB Homo sapiens Q96EQ0 32296183
Intra
WFDC12 Q8WWY7 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
WFDC12 Q8WWY7 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
WFDC12 Q8WWY7 UBQLN2 Homo sapiens Q9UHD9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Autosomal Recessive Congenital Ichthyosis
  • Lamellar Ichthyosis

  • Congenital Ichthyosiform Erythroderma

  • Li

  • Congenital Nonbullous Ichthyosiform Erythroderma

  • Arci

  • Congenital Lamellar Ichthyosis

  • Nonbullous Congenital Ichthyosiform Erythroderma

  • Cie

  • Congenital Non-Bullous Ichthyosiform Erythroderma

  • Erythrodermic Ichthyosis

  • Nbcie

  • Ncie

  • Non-Bullous Congenital Ichthyosiform Erythroderma

  • Collodion Baby

  • Ichthyosis, Lamellar

  • Non Bullous Congenital Ichthyosiform Erythroderma

  • Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

  • Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

  • Collodion Baby Syndrome

  • Ichthyoses, Lamellar

  • Nbie

  • Nonbullous Ichthyosiform Erythroderma

  • Classic Lamellar Ichthyosis

  • Ichthyosiform Erythroderma Nonbullous Congenital

  • Ichthyosiform Erythroderma Congenital

  • Ichthyosis, Congenital, Autosomal Recessive

  • Ichthyosiform Erythroderma, Congenital

  • Collodion Fetus

  • Non-Bullous Ichthyosiform Erythroderma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus WFDC12 MGD MGI:2183434
Macaca mulatta WFDC12 VGNC VGNC:79009
Rattus norvegicus WFDC12 RGD RGD:1303229
Others WFDC12 NCBI