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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 rece... See more...
Aliases for WBP2 Gene
Aliases for WBP2 Gene
External Ids for WBP2 Gene
- HGNC: 12738
- Entrez Gene: 23558
- Ensembl: ENSG00000132471
- OMIM: 606962
- UniProtKB: Q969T9
Previous GeneCards Identifiers for WBP2 Gene
- GC17M073818
- GC17M076868
- GC17M074305
- GC17M074438
- GC17M071353
- GC17M073841
- GC17M069267
Summaries 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 Tyrosine Kinases / Adaptors and Wnt / Hedgehog / Notch. Gene Ontology (GO) annotations related to this gene include RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is WBP2NL.
UniProtKB/Swiss-Prot Summary 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).
Additional gene information for WBP2 Gene
- HGNC(12738)
- Entrez Gene(23558)
- Ensembl(ENSG00000132471)
- OMIM(606962)
- UniProtKB(Q969T9)
- Open Targets Platform(ENSG00000132471)
- Monarch Initiative
- Search for WBP2 at DataMed
- Search for WBP2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WBP2 Gene
Genomics for WBP2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for WBP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around WBP2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WBP2
- Top Transcription factor binding sites by QIAGEN in the WBP2 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- GR
- GR-alpha
- GR-beta
- p53
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)
- Size:
- 10,809 bases
- Orientation:
- Minus strand
Genomic View for WBP2 Gene
Genes around WBP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
WBP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression 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
Other Protein References for WBP2 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for WBP2
- Novus Biologicals Antibodies for WBP2
- Invitrogen Antibodies for WBP2 (AFLGC-WBP2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for WBP2
- Sino Biological Antibodies for WBP2
Protein Products
- G Biosciences Human WW domain-binding protein 2/WBP2, Lyophilized
-
OriGene Purified Proteins for WBP2
- Search Origene for MassSpec and Protein Over-expression Lysates for WBP2
- Origene Custom Protein Services for WBP2
- ProSpec Recombinant Proteins for WBP2
- antibodies-online: Show 8 available WBP2 Proteins ranked by validation data
- Compare Top WBP2 Proteins
-
Quality Products:
-
Signalway Proteins for WBP2
-
ProSci Proteins for WBP2
-
Abcam proteins for WBP2
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):
-
- Disease related genes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for WBP2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59459, highly similar to WW domain-binding protein 2 (A6NG10_HUMAN)
- cDNA FLJ57063, highly similar to WW domain-binding protein 2 (B4DFG2_HUMAN)
- cDNA FLJ59995, highly similar to WW domain-binding protein 2 (B4DV07_HUMAN)
- WW domain-binding protein 2 (WBP2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q969T9UniProtKB/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).
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IMP | 23233354 |
| GO:0003713 | transcription coactivator activity | IEA,IMP | 23233354 |
| GO:0005515 | protein binding | IPI | 16772533 |
| GO:0030331 | estrogen receptor binding | IPI | 21642474 |
| GO:0031490 | chromatin DNA binding | IBA,IMP | 23233354 |
Phenotypes for WBP2 Gene
- MGI mutant phenotypes for WBP2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for WBP2:
Animal Models for WBP2 Gene
- MGI Knock Outs for WBP2:
-
- Wbp2 Wbp2<tm2a(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for WBP2 - Select products 50% OFF >
- * WBP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for WBP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for WBP2
miRNA for WBP2 Gene
- miRTarBase miRNAs that target WBP2
-
- hsa-miR-335-5p (MIRT018302)
- hsa-miR-19b-3p (MIRT031220)
- hsa-miR-744-5p (MIRT037483)
- hsa-miR-455-3p (MIRT037894)
- hsa-miR-423-5p (MIRT038101)
- hsa-miR-324-5p (MIRT043192)
- hsa-miR-361-5p (MIRT044096)
- hsa-miR-8066 (MIRT078862)
- hsa-miR-6716-5p (MIRT464015)
- hsa-miR-2467-3p (MIRT464016)
- hsa-miR-4468 (MIRT464017)
- hsa-miR-4530 (MIRT464018)
- hsa-miR-922 (MIRT464019)
- hsa-miR-6873-5p (MIRT464020)
- hsa-miR-6510-5p (MIRT464021)
- hsa-miR-634 (MIRT464022)
- hsa-miR-613 (MIRT464023)
- hsa-miR-206 (MIRT464024)
- hsa-miR-1-3p (MIRT464025)
- hsa-miR-4433b-5p (MIRT520167)
- hsa-miR-6515-5p (MIRT520168)
- hsa-miR-449c-3p (MIRT520169)
- hsa-miR-6783-3p (MIRT520170)
- hsa-miR-1343-3p (MIRT520171)
- hsa-miR-188-3p (MIRT520172)
- hsa-miR-4433a-5p (MIRT520173)
- hsa-miR-6878-5p (MIRT520174)
- hsa-miR-6797-5p (MIRT520175)
- hsa-miR-1249-5p (MIRT520176)
- hsa-miR-8086 (MIRT520177)
- hsa-miR-18b-3p (MIRT520178)
- hsa-miR-4772-5p (MIRT520179)
- hsa-miR-383-5p (MIRT520180)
- hsa-miR-6133 (MIRT520181)
- hsa-miR-6130 (MIRT520182)
- hsa-miR-6129 (MIRT520183)
- hsa-miR-6127 (MIRT520184)
- hsa-miR-4510 (MIRT520185)
- hsa-miR-4419a (MIRT520186)
- hsa-miR-631 (MIRT520187)
- hsa-miR-3661 (MIRT520188)
- hsa-miR-4490 (MIRT520189)
- hsa-miR-4254 (MIRT520190)
- hsa-miR-6834-3p (MIRT520191)
- hsa-miR-3146 (MIRT520192)
- hsa-miR-6760-5p (MIRT520193)
- hsa-miR-619-3p (MIRT520194)
- hsa-miR-513b-3p (MIRT520195)
- hsa-miR-19a-3p (MIRT726112)
- hsa-miR-1184 (MIRT735902)
- hsa-miR-1252-5p (MIRT736533)
- hsa-miR-1301-3p (MIRT737255)
- hsa-miR-185-3p (MIRT738229)
- hsa-miR-1908-5p (MIRT738335)
- hsa-miR-2114-5p (MIRT738961)
- hsa-miR-3202 (MIRT741186)
- hsa-miR-3689d (MIRT742502)
- hsa-miR-4435 (MIRT744426)
- hsa-miR-4436a (MIRT744447)
- hsa-miR-4476 (MIRT745059)
- hsa-miR-4533 (MIRT746040)
- hsa-miR-4660 (MIRT746690)
- hsa-miR-4747-5p (MIRT748292)
- hsa-miR-5000-3p (MIRT749334)
- hsa-miR-5047 (MIRT749571)
- hsa-miR-5196-5p (MIRT750076)
- hsa-miR-6134 (MIRT752473)
- hsa-miR-663a (MIRT753595)
- hsa-miR-6787-5p (MIRT755957)
- hsa-miR-6815-5p (MIRT756785)
- hsa-miR-6829-5p (MIRT757119)
- hsa-miR-6846-5p (MIRT757451)
- hsa-miR-6848-5p (MIRT757525)
- hsa-miR-6851-5p (MIRT757626)
- hsa-miR-6865-5p (MIRT757934)
- hsa-miR-6876-5p (MIRT758169)
- hsa-miR-6894-5p (MIRT758792)
- hsa-miR-7154-3p (MIRT759244)
- hsa-miR-7515 (MIRT759402)
- hsa-miR-765 (MIRT759598)
- hsa-miR-766-5p (MIRT759663)
- hsa-miR-7847-3p (MIRT759876)
- hsa-miR-9500 (MIRT760911)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WBP2
- Browse OriGene Inhibitory RNA Products For WBP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WBP2
Clone Products
- Applied Biological Materials (abm): Clones for WBP2 - Select products 50% OFF >
- * WBP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for WBP2
- Addgene plasmids for WBP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WBP2
Cell Line Products
-
Horizon Cell Lines for WBP2
No data available for Enzyme Numbers (IUBMB) , 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IEA,IDA | 23233354 |
| GO:0005634 | nucleus | IBA,IDA | 21642474 |
| GO:0005737 | cytoplasm | IEA,IDA | 21642474 |
Pathways & Interactions for WBP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Tyrosine Kinases / Adaptors | ||
| 2 | Wnt / Hedgehog / Notch | ||
Pathways by source for WBP2 Gene
2 Cell Signaling Technology pathways for WBP2 Gene
Interacting Proteins for WBP2 Gene
Selected Interacting proteins:
Q969T9-WBP2_HUMAN
ENSP00000467579
for WBP2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for WBP2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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 |
| GO:0045815 | positive regulation of gene expression, epigenetic | IEA,IMP | 23233354 |
No data available for SIGNOR curated interactions for WBP2 Gene
Drugs & Compounds for WBP2 Gene
No Compound Related Data Available
Drug Products
- G Biosciences Human WW domain-binding protein 2/WBP2, Lyophilized
Transcripts for WBP2 Gene
mRNA/cDNA for WBP2 Gene
- 3 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000254806 1859 nts (view in UCSC)
- ENST00000416574 987 nts (view in UCSC)
- ENST00000433525 928 nts (view in UCSC)
- ENST00000585462 1895 nts (view in UCSC)
- ENST00000586257 676 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for WBP2 - Select products 50% OFF >
- * WBP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for WBP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for WBP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WBP2
- Browse OriGene Inhibitory RNA Products For WBP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WBP2
Clone Products
- Applied Biological Materials (abm): Clones for WBP2 - Select products 50% OFF >
- * WBP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for WBP2
- Addgene plasmids for WBP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WBP2
| 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
Expression 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, MaxQB, and MOPED for WBP2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WBP2
SOURCE GeneReport for Unigene cluster for WBP2 Gene:
Hs.514489mRNA 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(4.2)
- Eye(3.8)
- Lung(3.8)
- Intestine(3.7)
- Kidney(3.7)
- Blood(3.6)
- Liver(3)
- Heart(2.7)
- Muscle(2.6)
- Thyroid gland(2.1)
- Spleen(2.1)
Primer Products
-
OriGene qPCR primer pairs for WBP2
-
OriGene qPCR primer pairs and template standards for WBP2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | WBP2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | WBP2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Wbp2 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | WBP2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Wbp2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | WBP2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | WBP2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wbp2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68743 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | wbp2 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Wbp2 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | C18B2.4 31 |
|
ManyToMany | |
| D2013.6 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2824 31 |
|
OneToMany |
- Species where no ortholog for WBP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for WBP2: view image
Paralogs for WBP2 Gene
(2) SIMAP similar genes for WBP2 Gene using alignment to 11 proteins:
- WBP2_HUMAN
- A6NG10_HUMAN
- B4DFG2_HUMAN
- K7EIJ0_HUMAN
- K7EIK1_HUMAN
- K7EIN1_HUMAN
- K7EJ75_HUMAN
- K7EMC9_HUMAN
- K7ENL2_HUMAN
- K7ESN4_HUMAN
- L0R5E7_HUMAN
Pseudogenes.org Pseudogenes for WBP2 Gene
Variants for WBP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WBP2 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 780452 | Benign: not provided | 75,847,548(-) | C/T | SYNONYMOUS_VARIANT | |
| 781331 | Benign: not provided | 75,847,615(-) | C/T | INTRON_VARIANT | |
| rs1555604549 | Pathogenic: DEAFNESS, AUTOSOMAL RECESSIVE 107. Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] | 75,846,969(-) | G/Ap.Ala224Val | MISSENSE_VARIANT | |
| rs1555604710 | Pathogenic: DEAFNESS, AUTOSOMAL RECESSIVE 107. Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] | 75,847,841(-) | T/Gp.Met163Leu | MISSENSE_VARIANT,INTRON_VARIANT | |
| rs202022024 | Pathogenic: DEAFNESS, AUTOSOMAL RECESSIVE 107. Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] | 75,847,850(-) | C/Tp.Ala160Thr | MISSENSE_VARIANT,INTRON_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WBP2 Gene
Disorders for WBP2 Gene
(3) MalaCards diseases for WBP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 107 |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
| wilson-turner x-linked mental retardation syndrome |
|
|
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
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for WBP2 Gene
Publications for WBP2 Gene
- 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
- 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 23
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
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Sources for WBP2 Gene
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