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 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).
Additional gene information for WBP2 Gene
- Monarch Initiative
- Search for WBP2 at DataMed
- Search for WBP2 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around WBP2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 17q25.1 by Ensembl
- 17q25.1 by Entrez Gene
- 17q25.1 by HGNC
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=Translation N-terminally shortened.; 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
- GeneTex WBP2 antibody for WBP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for WBP2
Protein Products
-
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: Search results for 8 available WBP2 Proteins ranked by validation data
- Compare Top WBP2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for WBP2
-
ProSci Proteins for WBP2
-
Abcam proteins for WBP2
Assay Products
- antibodies-online: Search results for available WBP2 related products ranked by validation data
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:
Suggested Antigen Peptide Sequences for WBP2 Gene
- GenScript: Design optimal peptide antigens:
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: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 |
Phenotypes for WBP2 Gene
- MGI mutant phenotypes for WBP2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for WBP2:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased POU5F1-GFP protein expression
- Strongly decreased CFP-tsO45G cell surface transport
- Increased number of cells in monopolar arrest with EMD534085 (a Kinesin-5 inhibitor)
Animal Models for WBP2 Gene
- MGI Knock Outs for WBP2:
-
- Wbp2 tm2a(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for WBP2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for WBP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for WBP2 gene
- Search ViGene Biosciences for WBP2
CRISPR Products
-
OriGene CRISPR knockouts for WBP2
- genomics-online: gRNA clones - Search results for 135 available WBP2 gene related products
- Overview of 135 available WBP2 gene related products
- Applied Biological Materials CRISPR for WBP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for WBP2
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for WBP2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for WBP2
- Browse OriGene Inhibitory RNA Products For WBP2
- genomics-online: shRNA clones - Search results for 135 available WBP2 gene related products
- Overview of 135 available WBP2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for WBP2 gene
Clone Products
- Sino Biological Human cDNA Clone for WBP2
- VectorBuilder custom plasmid, inducible vectors for WBP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WBP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for WBP2
- Applied Biological Materials Clones for WBP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for WBP2
-
ViGene Biosciences adenoviral particle packaged cDNA for WBP2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for WBP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for WBP2 gene
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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| peroxisome | 2 |
- Cytosol (2)
- Nucleoplasm (2)
| 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 |
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:
ENSP00000254806
Q969T9-WBP2_HUMAN
for WBP2 Gene via
STRING
IID
UniProtKB
MINT
| 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 |
No data available for SIGNOR curated interactions for WBP2 Gene
Transcripts for WBP2 Gene
mRNA/cDNA for WBP2 Gene
- (4) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (958) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for WBP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for WBP2
- genomics-online: gRNA clones - Search results for 135 available WBP2 gene related products
- Overview of 135 available WBP2 gene related products
- Applied Biological Materials CRISPR for WBP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for WBP2
- GenScript: Design CRISPR guide RNA sequences for WBP2
miRNA Products
- Search ViGene Biosciences for WBP2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for WBP2
- Browse OriGene Inhibitory RNA Products For WBP2
- genomics-online: shRNA clones - Search results for 135 available WBP2 gene related products
- Overview of 135 available WBP2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for WBP2 gene
Clone Products
- Sino Biological Human cDNA Clone for WBP2
- VectorBuilder custom plasmid, inducible vectors for WBP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WBP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for WBP2
- Applied Biological Materials Clones for WBP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
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, PaxDb, MaxQB, and MOPED for WBP2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of WBP2 Gene:
WBP2SOURCE 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)
- 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)
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | WBP2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | WBP2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Wbp2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Wbp2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | WBP2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | WBP2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | wbp2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68743 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | wbp2 34 |
|
OneToOne | |
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Wbp2 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | C18B2.4 34 |
|
ManyToMany | |
| D2013.6 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2824 34 |
|
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)
Paralogs for WBP2 Gene
(2) SIMAP similar genes for WBP2 Gene using alignment to 11 proteins:
Pseudogenes.org Pseudogenes for WBP2 Gene
Variants 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 |
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
(2) MalaCards diseases for WBP2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 107 |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
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
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 58
- 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
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
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Sources for WBP2 Gene
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