WBP2 - WW domain binding protein 2 Gene

Homo sapiens

Also known as WBP-2; GRAMD6; DFNB107

Gene ID: 23558 | Gene type: protein coding

About WBP2

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,845,699-75,856,436 (from NCBI)

This gene has 19 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 118.9), adrenal (RPKM 61.3) and 25 other tissues.

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 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 Products(3)

mRNA	Protein	Name
NM_001330499.2	NP_001317428.1	WW domain-binding protein 2 isoform 2
NM_001348170.1	NP_001335099.1	WW domain-binding protein 2 isoform 1
NM_012478.4	NP_036610.2	WW domain-binding protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	23233354	GOA
enables chromatin DNA binding	IMP IMP: Inferred from mutant phenotype	23233354	GOA
enables nuclear estrogen receptor binding	IPI IPI: Inferred from physical interaction	21642474	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16772533	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	21642474	GOA
enables transcription coactivator activity	IMP IMP: Inferred from mutant phenotype	23233354	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to estrogen stimulus	IMP IMP: Inferred from mutant phenotype	23233354	GOA
involved in establishment of protein localization to chromatin	IMP IMP: Inferred from mutant phenotype	23233354	GOA
involved in positive regulation of intracellular estrogen receptor signaling pathway	IDA IDA: Inferred from direct assay	16772533	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	23233354	GOA
involved in progesterone receptor signaling pathway	IDA IDA: Inferred from direct assay	16772533	GOA
involved in response to estrogen	IDA IDA: Inferred from direct assay	16772533	GOA
involved in response to progesterone	IDA IDA: Inferred from direct assay	16772533	GOA
involved in transcription initiation-coupled chromatin remodeling	IMP IMP: Inferred from mutant phenotype	23233354	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	23233354	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	21642474	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21642474	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WBP2 Protein Structure

GRAM

0
100
200
261 a.a.

Protein Preferred Names

Protein Names

WW domain-binding protein 2

WBP2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	WBP2	Q969T9	MAGEA4	Homo sapiens	Q1RN33	Validated Y2H	25416956
Intra	WBP2	Q969T9	YAP1	Homo sapiens	P46937	ITC	25283809
Intra	WBP2	Q969T9	EPN2	Homo sapiens	O95208-2	Y2H Prey Pooling	32296183
Intra	WBP2	Q969T9	EPN2	Homo sapiens	O95208-2	Y2H Array	32296183
Intra	WBP2	Q969T9	CCT7	Homo sapiens	Q99832	Validated Y2H	32296183
Intra	WBP2	Q969T9	SMAD5	Homo sapiens	Q99717	Validated Y2H	32296183
Intra	WBP2	Q969T9	WWTR1	Homo sapiens	Q9GZV5	Confocal	20972459
Intra	WBP2	Q969T9	WWTR1	Homo sapiens	Q9GZV5	Anti Tag CoIP	20972459
Intra	WBP2	Q969T9	HOMER3	Homo sapiens	Q9NSC5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant WBP2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71431	WBP2 Protein, Human (His)	Q969T9-1 (M1-A100)	≥95%

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 107

DFNB107

Deafness, Autosomal Recessive, 107

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15750	WBP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15751	WBP2NL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	WBP2	MGD	MGI:104709
Rattus norvegicus	WBP2	RGD	RGD:620032
Macaca mulatta	WBP2	VGNC	VGNC:78786
Canis familiaris	WBP2	VGNC	VGNC:48341
Bos taurus	WBP2	VGNC	VGNC:36872
Felis catus	WBP2	VGNC	VGNC:99573
Others	WBP2	NCBI

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