WBP2 Chromosome 17
WW domain binding protein 2
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What This Gene Does
The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
GRAM domain containing
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000132471
Associated Conditions (2)
Hearing loss
autosomal recessive 107
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147416469 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770968991 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 107, Hearing loss |