2. Gene
  3. TBC1D22A - TBC1 domain family member 22A Gene

TBC1D22A - TBC1 domain family member 22A 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 22A

种属: Homo sapiens

同用名: C22orf4; HSC79E021

基因 ID: 25771 | 基因类型: protein coding

关于 TBC1D22A

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:46,762,650-47,175,699 (from NCBI)

This gene has 11 transcripts (splice variants), 202 orthologues and 45 paralogues. Ubiquitous expression in spleen (RPKM 2.7), lymph node (RPKM 2.5) and 25 other tissues.

功能概要

启用 14-3-3 蛋白结合活性和蛋白同源二聚化活性。预计参与 GTPase 活性的激活和细胞内蛋白质转运。 [由基因组资源联盟提供，2022 年 4 月]

Enables 14-3-3 protein binding activity and protein homodimerization activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D22A 基因产物(5)

mRNA Protein Name
NM_001284303.2 NP_001271232.1 TBC1 domain family member 22A isoform b
NM_001284304.2 NP_001271233.1 TBC1 domain family member 22A isoform c
NM_001284305.2 NP_001271234.1 TBC1 domain family member 22A isoform d
NM_001410803.1 NP_001397732.1 TBC1 domain family member 22A isoform e
NM_014346.5 NP_055161.1 TBC1 domain family member 22A isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 14-3-3 protein binding IDA
IDA: 通过直接分析推断
23572552 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23572552 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
18186464 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in regulation of cilium assembly IMP
IMP: 通过突变表型推断
17646400 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

TBC1D22A 蛋白结构

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (227 - 469)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 517 a.a.
蛋白主名 其他名称

TBC1 domain family member 22A

putative GTPase activator

TBC1D22A 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
TBC1D22A Q8WUA7 ACBD3 Homo sapiens Q9H3P7
Pull Down
23572552
种属内
TBC1D22A Q8WUA7 ACBD3 Homo sapiens Q9H3P7
Anti Tag CoIP
33961781
种属内
TBC1D22A Q8WUA7 ACBD3 Homo sapiens Q9H3P7
Anti Tag CoIP
23572552
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
Epilepsy, Familial Temporal Lobe, 5

Familial Temporal Lobe Epilepsy 5

ETL5

Epilepsy, Temporal Lobe, Familial, Type 5
Febrile Seizures, Familial, 8

FEB8

Epilepsy, Childhood Absence 2

Generalized Epilepsy With Febrile Seizures Plus 3

Generalized Epilepsy With Febrile Seizures Plus, Type 3

Familial Febrile Seizures 8

Familial Febrile Convulsions 8

Epilepsy, Childhood Absence, Susceptibility To, 2

ECA2

GEFS+3

Gefs+ Type 3

Gefsp3

Epilepsy, Generalized, With Febrile Seizures Plus, Type 3
Generalized Epilepsy With Febrile Seizures Plus, Type 7

Febrile Seizures, Familial, 3b

GEFSP7

GEFS+7

Generalized Epilepsy With Febrile Seizures Plus 7

Gefs+, Type 7

Generalised Epilepsy With Febrile Seizures Plus 7

Generalised Epilepsy With Febrile Seizures Plus Type 7

Generalized Epilepsy With Febrile Seizures Plus Type 7

FEB3B

Familial Febrile Convulsions 3

Gefs+ Type 7

Epilepsy, Generalized, With Febrile Seizures Plus, Type 7

Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, Type 2

Febrile Seizures, Familial, 3a

GEFSP2

GEFS+2

Generalized Epilepsy With Febrile Seizures Plus 2

Gefs+, Type 2

Generalised Epilepsy With Febrile Seizures Plus 2

Generalised Epilepsy With Febrile Seizures Plus Type 2

Generalized Epilepsy With Febrile Seizures Plus Type 2

FEB3A

Familial Febrile Convulsions 3

Gefs+ Type 2

Epilepsy, Generalized, With Febrile Seizures Plus, Type 2

Febrile Convulsions, Familial, 3a
Febrile Seizures, Familial, 4

FEB4

Convulsions, Familial Febrile, 4

Familial Febrile Seizures 4

Familial Febrile Convulsions 4
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14236 TBC1D22A 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 TBC1D22A VGNC VGNC:47141
Rattus norvegicus TBC1D22A RGD RGD:1306588
Bos taurus TBC1D22A VGNC VGNC:35636
Felis catus TBC1D22A VGNC VGNC:65981
Macaca mulatta TBC1D22A VGNC VGNC:82077
Mus musculus TBC1D22A MGD MGI:1289265
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