Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23558
Gene name Gene Name - the full gene name approved by the HGNC.
WW domain binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WBP2
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB107, GRAMD6, WBP-2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606962 12738 ENSG00000132471
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Deafness hearing loss, autosomal recessive 107, hearing loss, autosomal recessive N/A N/A GenCC
Hearing Loss Hearing loss, autosomal recessive 107 N/A N/A ClinVar
Associations from Text Mining Disease 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