TBC1D2B - TBC1 domain family member 2B Gene

中文名称：TBC1 域家族成员 2B

种属: Homo sapiens

同用名: NEDSGO

基因 ID: 23102 | 基因类型: protein coding

关于 TBC1D2B

Cytogenetic location: 15q24.3-q25.1 Genomic coordinates (GRCh38): 15:77,994,985-78,077,711 (from NCBI)

This gene has 12 transcripts (splice variants), 198 orthologues, 45 paralogues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 23.9), gall bladder (RPKM 19.7) and 25 other tissues.

功能概要

预测启用 GTPase 激活剂活动。预计参与 GTPase 活性的激活和细胞内蛋白质转运。位于胞质溶胶中。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D2B 基因产物(10)

mRNA	Protein	Name
NM_001387142.1	NP_001374071.1	TBC1 domain family member 2B isoform c
NM_001387143.1	NP_001374072.1	TBC1 domain family member 2B isoform d
NM_001387144.1	NP_001374073.1	TBC1 domain family member 2B isoform e
NM_001387145.1	NP_001374074.1	TBC1 domain family member 2B isoform f
NM_001387146.1	NP_001374075.1	TBC1 domain family member 2B isoform g
NM_001387147.1	NP_001374076.1	TBC1 domain family member 2B isoform h
NM_001387148.1	NP_001374077.1	TBC1 domain family member 2B isoform i
NM_001387149.1	NP_001374078.1	TBC1 domain family member 2B isoform j
NM_015079.6	NP_055894.6	TBC1 domain family member 2B isoform b
NM_144572.2	NP_653173.1	TBC1 domain family member 2B isoform a

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 protein binding	IPI IPI: 通过物理相互作用推断	20562859	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endocytosis	IMP IMP: 通过突变表型推断	32623794	GOA
NOT involved in regulation of cilium assembly	IMP IMP: 通过突变表型推断	17646400	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in early endosome	IDA IDA: 通过直接分析推断	32623794	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

TBC1D2B 蛋白结构

RabGAP-TBC

0
200
400
600
800
963 a.a.

蛋白主名

其他名称

TBC1 domain family member 2B

TBC1D2B 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	TBC1D2B	Q9UPU7	MAP1LC3C	Homo sapiens	Q9BXW4	Pull Down	20562859
种属内	TBC1D2B	Q9UPU7	MAP1LC3B	Homo sapiens	Q9GZQ8	Pull Down	20562859
种属内	TBC1D2B	Q9UPU7	GABARAP	Homo sapiens	O95166	Pull Down	20562859
种属内	TBC1D2B	Q9UPU7	GABARAPL2	Homo sapiens	P60520	Pull Down	20562859
种属内	TBC1D2B	Q9UPU7	GABARAPL1	Homo sapiens	Q9H0R8	Pull Down	20562859

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Seizures And Gingival Overgrowth

NEDSGO

Gingival Overgrowth

Gingival Enlargement	Gingival Hyperplasia
Gingival Bulge	Gingival Enlargement Nos
Gingival Hypertrophy	Gum Hypertrophy
Hyperplasia Gum	Gingival Thickening
Hyperplasia Of Gingiva	Hypertrophy Of Gingiva
Hypertrophy Of Mucous Membrane Of Gums

Gingival Hypertrophy

Hypertrophy Of Gingivae

Cherubism

CRBM	Familial Benign Giant-Cell Tumor Of The Jaw
Familial Fibrous Dysplasia Of Jaw	Familial Multilocular Cystic Disease Of The Jaws

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-RS14240	TBC1D2B 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	TBC1D2B	MGD	MGI:1914266
Canis familiaris	TBC1D2B	VGNC	VGNC:47145
Rattus norvegicus	TBC1D2B	RGD	RGD:1307436
Felis catus	TBC1D2B	VGNC	VGNC:65984
Macaca mulatta	TBC1D2B	VGNC	VGNC:78236
Bos taurus	TBC1D2B	VGNC	VGNC:35640

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