2. Gene
  3. TBC1D2 - TBC1 domain family member 2 Gene

TBC1D2 - TBC1 domain family member 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：TBC1 域家族成员 2

种属: Homo sapiens

同用名: PARIS1; PARIS-1; TBC1D2A

基因 ID: 55357 | 基因类型: protein coding

关于 TBC1D2

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,198,998-98,255,649 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues and 45 paralogues. Broad expression in lung (RPKM 7.7), urinary bladder (RPKM 3.8) and 23 other tissues.

功能概要

启用 GTPase 激活剂活性和钙粘蛋白结合活性。参与 GTPase 活性的正向调节。位于几种细胞成分中，包括细胞质囊泡；胞质溶胶；和核质。 [由基因组资源联盟提供，2022 年 4 月]

Enables GTPase activator activity and cadherin binding activity. Involved in positive regulation of GTPase activity. Located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D2 基因产物(4)

mRNA Protein Name
NM_001267571.2 NP_001254500.1 TBC1 domain family member 2A isoform 1
NM_001267572.1 NP_001254501.1 TBC1 domain family member 2A isoform 3
NM_001410988.1 NP_001397917.1 TBC1 domain family member 2A isoform 4
NM_018421.4 NP_060891.3 TBC1 domain family member 2A isoform 2
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 GTPase activator activity IDA
IDA: 通过直接分析推断
20116244 GOA
enables cadherin binding IPI
IPI: 通过物理相互作用推断
20116244 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22354992 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of GTPase activity IDA
IDA: 通过直接分析推断
20116244 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 cell junction IDA
IDA: 通过直接分析推断
20116244 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
20116244 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

TBC1D2 蛋白结构

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (411 - 619)

  • 0
  • 200
  • 400
  • 600
  • 710 a.a.
蛋白主名 其他名称

TBC1 domain family member 2A

TBC1 domain family, member 2A

关联疾病

疾病名称 别名
Pontocerebellar Hypoplasia, Type 11

PCH11

Pontocerebellar Hypoplasia Type 11

Pontocerebellar Hypoplasia Due To Tbc1d23

Pontocerebellar Hypoplasia 11

Doid:0112324
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome

Hhcs

Hereditary Hyperferritinemia With Congenital Cataracts

Hyperferritinemia, Hereditary, With Congenital Cataracts

Bonneau-Beaumont Syndrome

HRFTC

Hereditary Hyperferritinemia-Cataract Syndrome

Cataract-Hyperferritinemia Syndrome

Hyperferritinemia Cataract Syndrome

Hereditary Hyperferritinemia Cataract Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14234 TBC1D2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
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
Macaca mulatta TBC1D2 VGNC VGNC:78157
Felis catus TBC1D2 VGNC VGNC:65978
Canis familiaris TBC1D2 VGNC VGNC:47138
Bos taurus TBC1D2 VGNC VGNC:35633
Mus musculus TBC1D2 MGD MGI:2652885
Rattus norvegicus TBC1D2 RGD RGD:1306860
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