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WAC WW domain containing adaptor with coiled-coil

Gene ID: 51322, updated on 3-Oct-2021
Gene type: protein coding
Also known as: Wwp4; DESSH; BM-016; PRO1741

Summary

The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2018-02-28)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2018-02-28)

ClinGen Genome Curation Page

Genomic context

Location:
10p12.1; 10p12.1-p11.2
Sequence:
Chromosome: 10; NC_000010.11 (28532772..28623112)
Total number of exons:
16

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