WBP2 - WW domain binding protein 2 Gene

中文名称：WW 结构域结合蛋白 2

种属: Homo sapiens

同用名: WBP-2; GRAMD6; DFNB107

基因 ID: 23558 | 基因类型: protein coding

关于 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.

功能概要

球形 WW 结构域由 38 到 40 个半保守氨基酸组成，由具有不同功能的蛋白质共享，包括结构蛋白、调节蛋白和信号蛋白。该结构域通过聚脯氨酸配体的结合参与介导蛋白质-蛋白质相互作用。该基因编码 WW 结构域结合蛋白，该蛋白是雌激素受体 α 和孕激素受体的转录共激活因子。该基因的缺陷与听力障碍有关。[RefSeq 提供，2017 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP IMP: 通过突变表型推断	23233354	GOA
enables chromatin DNA binding	IMP IMP: 通过突变表型推断	23233354	GOA
enables nuclear estrogen receptor binding	IPI IPI: 通过物理相互作用推断	21642474	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16772533	GOA
enables transcription coactivator activity	IDA IDA: 通过直接分析推断	21642474	GOA
enables transcription coactivator activity	IMP IMP: 通过突变表型推断	23233354	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to estrogen stimulus	IMP IMP: 通过突变表型推断	23233354	GOA
involved in establishment of protein localization to chromatin	IMP IMP: 通过突变表型推断	23233354	GOA
involved in positive regulation of intracellular estrogen receptor signaling pathway	IDA IDA: 通过直接分析推断	16772533	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	23233354	GOA
involved in progesterone receptor signaling pathway	IDA IDA: 通过直接分析推断	16772533	GOA
involved in response to estrogen	IDA IDA: 通过直接分析推断	16772533	GOA
involved in response to progesterone	IDA IDA: 通过直接分析推断	16772533	GOA
involved in transcription initiation-coupled chromatin remodeling	IMP IMP: 通过突变表型推断	23233354	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromatin	IDA IDA: 通过直接分析推断	23233354	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	21642474	GOA
located in nucleus	IDA IDA: 通过直接分析推断	21642474	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

WBP2 蛋白结构

GRAM

0
100
200
261 a.a.

蛋白主名

其他名称

WW domain-binding protein 2

WBP2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	WBP2	Q969T9	MAGEA4	Homo sapiens	Q1RN33	Validated Y2H	25416956
种属内	WBP2	Q969T9	YAP1	Homo sapiens	P46937	ITC	25283809
种属内	WBP2	Q969T9	EPN2	Homo sapiens	O95208-2	Y2H Prey Pooling	32296183
种属内	WBP2	Q969T9	EPN2	Homo sapiens	O95208-2	Y2H Array	32296183
种属内	WBP2	Q969T9	CCT7	Homo sapiens	Q99832	Validated Y2H	32296183
种属内	WBP2	Q969T9	SMAD5	Homo sapiens	Q99717	Validated Y2H	32296183
种属内	WBP2	Q969T9	WWTR1	Homo sapiens	Q9GZV5	Confocal	20972459
种属内	WBP2	Q969T9	WWTR1	Homo sapiens	Q9GZV5	Anti Tag CoIP	20972459
种属内	WBP2	Q969T9	HOMER3	Homo sapiens	Q9NSC5	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 WBP2 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71431	WBP2 Protein, Human (His)	Q969T9-1 (M1-A100)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15750	WBP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS15751	WBP2NL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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