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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 receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]
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. An important paralog of this gene is WBP2NL.
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 | IMP,IEA | 23233354 |
GO:0005515 | protein binding | IPI | 16772533 |
GO:0030331 | estrogen receptor binding | IPI | 21642474 |
GO:0031490 | chromatin DNA binding | IBA,IMP | 23233354 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA | 23233354 |
GO:0005634 | nucleus | IBA,IDA | 21642474 |
GO:0005737 | cytoplasm | IDA,IEA | 21642474 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Tyrosine Kinases / Adaptors | ||
2 | Wnt / Hedgehog / Notch |
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 |
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: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | WBP2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | WBP2 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Wbp2 17 33 32 |
|
||
cow (Bos Taurus) |
Mammalia | WBP2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Wbp2 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
chicken (Gallus gallus) |
Aves | WBP2 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | WBP2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | wbp2 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68743 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | wbp2 33 |
|
OneToOne | |
-- 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Wbp2 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | C18B2.4 33 |
|
ManyToMany | |
D2013.6 33 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2824 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1555604549 | pathogenic, DEAFNESS, AUTOSOMAL RECESSIVE 107, Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] | 75,846,969(-) | G/A | coding_sequence_variant, missense_variant | |
rs1555604710 | pathogenic, DEAFNESS, AUTOSOMAL RECESSIVE 107, Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] | 75,847,841(-) | T/G | coding_sequence_variant, intron_variant, missense_variant | |
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 | |
rs1000062560 | -- | 75,854,005(-) | A/G | intron_variant | |
rs1000356414 | -- | 75,849,348(-) | A/G | intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 107 |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|