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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hearing loss, autosomal recessive 107 Likely pathogenic rs770968991 RCV001580612
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 107 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder GWASCAT_DG 29942085
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21642474, 28391353, 28724435, 29497031, 29937544, 30183375, 30442712, 30593516
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17855441, 30442712, 34197030 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32820148 Inhibit
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) Deafness CLINGEN_DG 26881968
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 107 Deafness UNIPROT_DG 26881968
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 107 Deafness GENOMICS_ENGLAND_DG 26881968
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 107 Deafness CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioblastoma Glioblastoma BEFREE 29497031
★☆☆☆☆
Found in Text Mining only