Gene Gene information from NCBI Gene database.
Entrez ID 23558
Gene name WW domain binding protein 2
Gene symbol WBP2
Synonyms (NCBI Gene)
DFNB107GRAMD6WBP-2
Chromosome 17
Chromosome location 17q25.1
Summary 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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs202022024 C>T Pathogenic Intron variant, coding sequence variant, missense variant
rs1555604549 G>A Pathogenic Coding sequence variant, missense variant
rs1555604710 T>G Pathogenic Intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
546
miRTarBase ID miRNA Experiments Reference
MIRT018302 hsa-miR-335-5p Microarray 18185580
MIRT031220 hsa-miR-19b-3p Sequencing 20371350
MIRT044096 hsa-miR-361-5p CLASH 23622248
MIRT043192 hsa-miR-324-5p CLASH 23622248
MIRT038101 hsa-miR-423-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 23233354
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP 23233354
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity IDA 21642474
GO:0003713 Function Transcription coactivator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606962 12738 ENSG00000132471
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969T9
Protein name WW domain-binding protein 2 (WBP-2)
Protein function Acts as a 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). Synergizes with YAP1 to enhance
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02893 GRAM 11 132 GRAM domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MALNKNHSEGGGVIVNNTESILMSYDHVELTFNDMKNVPEAFKGTKKGTVYLTPYRVIFL
SKGKDAMQSFMMPFYLMKDCEIKQPVFGANYIKGTVKAEAGGGWEGSASYKLTFTAGGAI
EFGQRMLQVASQ
ASRGEVPSGAYGYSYMPSGAYVYPPPVANGMYPCPPGYPYPPPPPEFY
PGPPMMDGAMGYVQPPPPPYPGPMEPPVSGPDVPSTPAAEAKAAEAAASAYYNPGNPHNV
YMPTSQPPPPPYYPPEDKKTQ
Sequence length 261
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hearing loss, autosomal recessive 107 Likely pathogenic rs770968991 RCV001580612
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs140112945 RCV005911799
Familial cancer of breast Benign rs140112945 RCV005911798
Gastric cancer Benign rs184252231 RCV005921380
Lung cancer Benign rs140112945 RCV005911802
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenomyosis Associate 38239300
Breast Neoplasms Associate 17855441, 30442712, 34197030
Breast Neoplasms Inhibit 32820148
Hereditary Breast and Ovarian Cancer Syndrome Associate 34197030
Inflammation Associate 34197030
Neoplasms Associate 25417742
Neoplasms Inhibit 32820148
Triple Negative Breast Neoplasms Associate 30442712, 34197030