TBL2 - transducin beta like 2 Gene

中文名称：转导蛋白β样 2

种属: Homo sapiens

同用名: WBSCR13; WS-betaTRP

基因 ID: 26608 | 基因类型: protein coding

关于 TBL2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,567,537-73,578,579 (from NCBI)

This gene has 21 transcripts (splice variants), 202 orthologues, 26 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 54.0), thyroid (RPKM 6.5) and 21 other tissues.

功能概要

该基因编码 β-转导蛋白家族的成员。 β-转导蛋白家族的大多数蛋白质都参与调节功能。该蛋白可能参与某些细胞内信号通路。该基因在 Williams-Beuren 综合征中缺失，这是一种由 7q11.23 处多个基因缺失引起的发育障碍。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

TBL2 基因产物(5)

mRNA	Protein	Name
NM_001362660.2	NP_001349589.1	transducin beta-like protein 2 isoform 2
NM_001362661.2	NP_001349590.1	transducin beta-like protein 2 isoform 3
NM_001362662.2	NP_001349591.1	transducin beta-like protein 2 isoform 3
NM_001362663.2	NP_001349592.1	transducin beta-like protein 2 isoform 3
NM_012453.4	NP_036585.1	transducin beta-like protein 2 isoform 1 precursor

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 phosphoprotein binding	IDA IDA: 通过直接分析推断	25393282	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20562859	GOA
enables protein kinase binding	IPI IPI: 通过物理相互作用推断	25393282	GOA
enables translation initiation factor binding	IPI IPI: 通过物理相互作用推断	25393282	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to glucose starvation	IMP IMP: 通过突变表型推断	25393282	GOA
involved in cellular response to hypoxia	IMP IMP: 通过突变表型推断	25393282	GOA
involved in endoplasmic reticulum unfolded protein response	IMP IMP: 通过突变表型推断	25393282	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	25393282	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

TBL2 蛋白结构

WD40

0
100
200
300
400
447 a.a.

蛋白主名

其他名称

transducin beta-like protein 2

WS beta-transducin repeats protein

关联疾病

疾病名称

别名

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Retinitis Pigmentosa 32

RP32	Retinitis Pigmentosa-32

Retinitis Pigmentosa 47

RP47	Retinitis Pigmentosa, Type 47

Abducens Palsy

Sixth Nerve Palsy	Abducens Nerve Palsy
Abducens Nerve Disease	Abducens Nerve Weakness
Lateral Rectus Muscle Denervation Paresis	Lateral Rectus Muscle Innervation Disorder
Sixth Cranial Nerve Disorder	6th Nerve Palsy
Abducens Nerve Diseases	Vith Nerve Disorder
Vith Nerve Paralysis	Cranial Mononeuropathy Vi
Cranial Nerve Vi Palsy	Sixth Cranial Nerve Palsy
Vi Nerve Palsy	Abducens Nerve Disorder
Abducens Sixth Nerve Palsy	Abducens Nerve Paralysis
Disease Or Disorder Of Abducent Nerve	Sixth Cranial Nerve Disease
Sixth Cranial Nerve Weakness	Disorder Of Sixth Cranial Nerve
Isolated Abducent Nerve Palsy	Atrophy Of Sixth Cranial Nerve
Paralysis Of Sixth Cranial Nerve

Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome	7q11.23 Microduplication Syndrome
Chromosome 7q11.23 Duplication Syndrome	Wbs Duplication Syndrome
Somerville-Van Der Aa Syndrome	Dup(7)(Q11.23)
Trisomy 7q11.23	William-Beuren Region Duplication Syndrome
Chromosome 7q11.23 Duplication

Supravalvular Aortic Stenosis

SVAS	Supravalvar Aortic Stenosis
Supravalvar Aortic Stenosis, Eisenberg Type	Aortic Supravalvular Stenosis
Aortic Stenosis, Supravalvular	Supra-Valvular Aortic Stenosis
Stenosis, Aortic Supravalvular	Stenosis, Supravalvular Aortic
Supravalvular Stenosis, Aortic	Aortic Stenosis Supravalvular

Neurosarcoidosis

Cerebral Sarcoidosis

Cauda Equina Syndrome

Cauda Equina

Polyradiculopathy

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-RS14264	TBL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	TBL2	VGNC	VGNC:47162
Rattus norvegicus	TBL2	RGD	RGD:1595038
Bos taurus	TBL2	VGNC	VGNC:35658
Macaca mulatta	TBL2	VGNC	VGNC:78108
Mus musculus	TBL2	MGD	MGI:1351652
Felis catus	TBL2	VGNC	VGNC:80688

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

TBL2 - transducin beta like 2 Gene

关于 TBL2

功能概要

TBL2 基因产物(5)

TBL2 蛋白结构

关联疾病

直系同源

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TBL2 - transducin beta like 2 Gene

关于 TBL2

功能概要

TBL2 基因产物(5)

TBL2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z