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Aliases for WBP2 Gene

Aliases for WBP2 Gene

  • WW Domain Binding Protein 2 2 3 5
  • WBP-2 3 4
  • WW Domain-Binding Protein 2 3
  • DFNB107 3
  • GRAMD6 3

External Ids for WBP2 Gene

Previous GeneCards Identifiers for WBP2 Gene

  • GC17M073818
  • GC17M076868
  • GC17M074305
  • GC17M074438
  • GC17M071353
  • GC17M073841
  • GC17M069267

Summaries for WBP2 Gene

Entrez Gene Summary for WBP2 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]

GeneCards Summary for WBP2 Gene

WBP2 (WW Domain Binding Protein 2) is a Protein Coding gene. Diseases associated with WBP2 include Deafness, Autosomal Recessive 107 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Wnt / Hedgehog / Notch and Tyrosine Kinases / Adaptors. Gene Ontology (GO) annotations related to this gene include RNA polymerase II core promoter sequence-specific DNA binding and RNA polymerase II transcription coactivator activity. An important paralog of this gene is WBP2NL.

UniProtKB/Swiss-Prot for WBP2 Gene

  • 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 (By similarity).

Gene Wiki entry for WBP2 Gene

Additional gene information for WBP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WBP2 Gene

Genomics for WBP2 Gene

GeneHancer (GH) Regulatory Elements for WBP2 Gene

Promoters and enhancers for WBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I075852 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.2 +1.6 1623 4.1 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 WBP2 UNK TRIM65 ENSG00000267342 SRSF2 FBF1 CDK3 TRIM47 NUP85 RECQL5
GH17I075782 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 +71.5 71486 5.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 UNK GC17M075783 H3F3B MIR4738 PIR42869 SRSF2 NT5C NUP85 TRIM65 GGA3
GH17I075288 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.6 +562.8 562848 11 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 SLC25A19 NUP85 GRB2 UNK GGA3 ENSG00000266980 NT5C RECQL5 CDK3 SLC16A5
GH17I075857 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -2.3 -2272 2.8 HDGF PKNOX1 ATF1 ARNT TCF12 POLR2B ZNF766 ATF7 RUNX3 REST TRIM65 FBF1 TRIM47 H3F3B GRB2 UNC13D WBP2 UBALD2 SAP30BP ACOX1
GH17I075821 Enhancer 0.7 ENCODE dbSUPER 12.3 +34.3 34335 1.8 NFIC PKNOX1 POLR2A NFIB ZIC2 CHD2 UNC13D UNK WBP2 ENSG00000266980 GC17P075840
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WBP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WBP2 gene promoter:

Genomic Locations for WBP2 Gene

Genomic Locations for WBP2 Gene
chr17:75,845,699-75,856,507
(GRCh38/hg38)
Size:
10,809 bases
Orientation:
Minus strand
chr17:73,841,780-73,852,588
(GRCh37/hg19)

Genomic View for WBP2 Gene

Genes around WBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WBP2 Gene

Proteins for WBP2 Gene

  • Protein details for WBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969T9-WBP2_HUMAN
    Recommended name:
    WW domain-binding protein 2
    Protein Accession:
    Q969T9
    Secondary Accessions:
    • B4DFG2
    • O95638

    Protein attributes for WBP2 Gene

    Size:
    261 amino acids
    Molecular mass:
    28087 Da
    Quaternary structure:
    • Binds to the WW domain of YAP1, WWP1 and WWP2. Interacts with NEDD4 (By similarity). Interacts with ESR1 and UBE3A (PubMed:16772533, PubMed:21642474).
    SequenceCaution:
    • Sequence=AAD10951.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for WBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WBP2 Gene

Post-translational modifications for WBP2 Gene

  • Phosphorylated in repsonse to EGF as well as estrogen and progesterone hormones (PubMed:21642474). Tyr-192 and Tyr-231 are phosphorylated by YES and SRC inducing nuclear translocation (PubMed:21642474).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WBP2 Gene

Domains & Families for WBP2 Gene

Gene Families for WBP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for WBP2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q969T9

UniProtKB/Swiss-Prot:

WBP2_HUMAN :
  • The PPxY motif 1 mediates interaction with NEDD4 (By similarity). The PPxY motif 2 is required for the coactivation function (PubMed:16772533).
Domain:
  • The PPxY motif 1 mediates interaction with NEDD4 (By similarity). The PPxY motif 2 is required for the coactivation function (PubMed:16772533).
genes like me logo Genes that share domains with WBP2: view

Function for WBP2 Gene

Molecular function for WBP2 Gene

UniProtKB/Swiss-Prot Function:
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 (By similarity).

Phenotypes From GWAS Catalog for WBP2 Gene

Gene Ontology (GO) - Molecular Function for WBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IMP 23233354
GO:0001105 RNA polymerase II transcription coactivator activity IMP,IEA 23233354
GO:0003713 transcription coactivator activity IDA 21642474
GO:0005515 protein binding IPI 16772533
GO:0030331 estrogen receptor binding IPI 21642474
genes like me logo Genes that share ontologies with WBP2: view
genes like me logo Genes that share phenotypes with WBP2: view

Animal Models for WBP2 Gene

MGI Knock Outs for WBP2:
  • Wbp2 tm2a(EUCOMM)Wtsi

Animal Model Products

miRNA for WBP2 Gene

miRTarBase miRNAs that target WBP2

Clone Products

  • Addgene plasmids for WBP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WBP2 Gene

Localization for WBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WBP2 Gene

Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus when phosphorylated. {ECO:0000269 PubMed:21642474}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WBP2 gene
Compartment Confidence
nucleus 5
cytosol 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 23233354
GO:0005634 nucleus IDA,IEA 21642474
GO:0005737 cytoplasm IDA,IEA 21642474
genes like me logo Genes that share ontologies with WBP2: view

Pathways & Interactions for WBP2 Gene

genes like me logo Genes that share pathways with WBP2: view

Pathways by source for WBP2 Gene

2 Cell Signaling Technology pathways for WBP2 Gene

Gene Ontology (GO) - Biological Process for WBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription by RNA polymerase II IEA --
GO:0032570 response to progesterone IDA 16772533
GO:0033148 positive regulation of intracellular estrogen receptor signaling pathway IDA 16772533
GO:0043627 response to estrogen IDA 16772533
GO:0045184 establishment of protein localization IMP 23233354
genes like me logo Genes that share ontologies with WBP2: view

No data available for SIGNOR curated interactions for WBP2 Gene

Drugs & Compounds for WBP2 Gene

No Compound Related Data Available

Transcripts for WBP2 Gene

Unigene Clusters for WBP2 Gene

WW domain binding protein 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for WBP2

Alternative Splicing Database (ASD) splice patterns (SP) for WBP2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - - - -
SP6:
SP7: - -
SP8: - - - - - -
SP9:
SP10:
SP11: -

Relevant External Links for WBP2 Gene

GeneLoc Exon Structure for
WBP2
ECgene alternative splicing isoforms for
WBP2

Expression for WBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WBP2 Gene

Protein differential expression in normal tissues from HIPED for WBP2 Gene

This gene is overexpressed in Breast (8.9), Skin (7.9), and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WBP2 Gene



Protein tissue co-expression partners for WBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WBP2 Gene:

WBP2

SOURCE GeneReport for Unigene cluster for WBP2 Gene:

Hs.514489

mRNA Expression by UniProt/SwissProt for WBP2 Gene:

Q969T9-WBP2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for WBP2 Gene

  • Nervous system(5)
  • Skin(4)
  • Eye(3.6)
  • Lung(3.6)
  • Blood(3.4)
  • Intestine(3.4)
  • Kidney(3.3)
  • Liver(2.5)
  • Muscle(2.4)
  • Heart(2.3)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with WBP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for WBP2 Gene

Orthologs for WBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for WBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBP2 33 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia WBP2 33 34
  • 92.46 (n)
cow
(Bos Taurus)
Mammalia WBP2 33 34
  • 91.06 (n)
mouse
(Mus musculus)
Mammalia Wbp2 33 16 34
  • 91.06 (n)
rat
(Rattus norvegicus)
Mammalia Wbp2 33
  • 88.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves WBP2 33 34
  • 74.93 (n)
lizard
(Anolis carolinensis)
Reptilia WBP2 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wbp2 33
  • 67.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68743 33
zebrafish
(Danio rerio)
Actinopterygii wbp2 34
  • 64 (a)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Wbp2 34
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18B2.4 34
  • 32 (a)
ManyToMany
D2013.6 34
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2824 34
  • 40 (a)
OneToMany
Species where no ortholog for WBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WBP2 Gene

ENSEMBL:
Gene Tree for WBP2 (if available)
TreeFam:
Gene Tree for WBP2 (if available)

Paralogs for WBP2 Gene

Paralogs for WBP2 Gene

Pseudogenes.org Pseudogenes for WBP2 Gene

genes like me logo Genes that share paralogs with WBP2: view

Variants for WBP2 Gene

Sequence variations from dbSNP and Humsavar for WBP2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs202022024 pathogenic, DEAFNESS, AUTOSOMAL RECESSIVE 107, Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] 75,847,850(-) C/T coding_sequence_variant, intron_variant, missense_variant
VAR_079501 Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] p.Met163Leu
VAR_079502 Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] p.Ala224Val
rs1000062560 -- 75,854,005(-) A/G intron_variant
rs1000356414 -- 75,849,348(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WBP2 Gene

Variant ID Type Subtype PubMed ID
nsv470606 CNV loss 18288195
nsv510728 CNV deletion 20534489
nsv833545 CNV gain 17160897

Variation tolerance for WBP2 Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WBP2 Gene

Human Gene Mutation Database (HGMD)
WBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WBP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WBP2 Gene

Disorders for WBP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for WBP2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 107
  • dfnb107
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
Search WBP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WBP2_HUMAN
  • Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639]: 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. {ECO:0000269 PubMed:26881968}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for WBP2

genes like me logo Genes that share disorders with WBP2: view

No data available for Genatlas for WBP2 Gene

Publications for WBP2 Gene

  1. Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing. (PMID: 26881968) Buniello A … Steel KP (EMBO molecular medicine 2016) 2 3 4 58
  2. WW domain binding protein-2, an E6-associated protein interacting protein, acts as a coactivator of estrogen and progesterone receptors. (PMID: 16772533) Dhananjayan SC … Nawaz Z (Molecular endocrinology (Baltimore, Md.) 2006) 3 4 22 58
  3. Molecular mechanism of WW-domain binding protein-2 coactivation function in estrogen receptor signaling. (PMID: 23233354) Buffa L … Nawaz Z (IUBMB life 2013) 2 3 58
  4. Tyrosine phosphorylation of transcriptional coactivator WW-domain binding protein 2 regulates estrogen receptor α function in breast cancer via the Wnt pathway. (PMID: 21642474) Lim SK … Lim YP (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for WBP2 Gene

  • Addgene plasmids for WBP2

Sources for WBP2 Gene

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