WBP2 gene

WW domain binding protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Acts as transcriptional coactivator of estrogen and progesterone receptors (ESR1 and PGR) upon hormone activation (PubMed:16772533). In presence of estrogen, binds to ESR1-responsive promoters (PubMed:16772533). Required for YAP1 coactivation function on PGR activity (PubMed:16772533). Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533). Modulates expression of post-synaptic scaffolding proteins via regulation of ESR1, ESR2 and PGR.

From NCBI Gene:

  • DEAFNESS, AUTOSOMAL RECESSIVE 107

From UniProt:

Deafness, autosomal recessive, 107 (DFNB107): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:617639]

Cytogenetic Location: 17q25.1, which is the long (q) arm of chromosome 17 at position 25.1

Molecular Location: base pairs 75,845,699 to 75,856,436 on chromosome 17 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 17q25.1, which is the long (q) arm of chromosome 17 at position 25.1
  • DFNB107
  • GRAMD6
  • WBP-2