WBP2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | WBP2 |
| Official Name | WW domain binding protein 2 [Source:HGNC Symbol;Acc:HGNC:12738] |
| Ensembl ID | ENSG00000132471 |
| Bio databases IDs | |
| Aliases | WW domain binding protein 2 |
| Synonyms | DFNB107, FLJ46550, GRAMD6, WW domain binding protein 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WBP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription co-activator
- PPXY motif
- double-stranded DNA binding
- nucleic acid binding
- chromatin binding
- protein binding
- Pleckstrin homology-like domain
- estrogen receptor binding
- sequence-specific DNA binding
- proline tyrosine motif
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- organismal death
- Turner syndrome
- autosomal recessive deafness type 107
- autosomal recessive nonsyndromic postlingual hearing loss
- neoplastic cell transformation
- ductal in situ breast cancer
- invasive ductal breast cancer
- nonobstructive azoospermia
- Klinefelter syndrome
role in cell
- expression in
- migration
- phosphorylation in
- proliferation
- invasion by
- growth
- signaling in
- cell-cell adhesion by
- activation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WBP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of gene expression, epigenetic
- response to estrogen stimulus
- positive regulation of transcription, DNA-dependent
- response to progesterone stimulus
- progesterone receptor signaling pathway
- positive regulation of intracellular estrogen receptor signaling pathway
- establishment of protein localization to chromatin
- positive regulation of transcription from RNA polymerase II promoter
- cellular response to estrogen stimulus
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- protein binding
- transcription coactivator activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- estrogen receptor binding