1. Gene
  2. LAT2 - linker for activation of T cells family member 2 Gene

LAT2 - linker for activation of T cells family member 2 Gene

中文名称:激活 T 细胞家族成员 2 的接头

种属: Homo sapiens

同用名: LAB; NTAL; WSCR5; WBSCR5; HSPC046; WBSCR15

基因 ID: 7462 | 基因类型: protein coding

关于 LAT2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,210,006-74,229,834 (from NCBI)

This gene has 11 transcripts (splice variants) and 79 orthologues. Broad expression in lymph node (RPKM 22.9), appendix (RPKM 20.3) and 16 other tissues.

功能概要

该基因是 7q11.23 的连续基因之一,通常在威廉姆斯综合征 (一种多系统发育障碍) 中被删除。该基因由至少 14 个外显子组成,其可变剪接产生 3 个转录本变体,均编码相同的蛋白质。[RefSeq 提供,2008 年 7 月]

This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]

LAT2 基因产物(3)

mRNA Protein Name
NM_014146.4 NP_054865.2 linker for activation of T-cells family member 2 precursor
NM_032463.3 NP_115852.1 linker for activation of T-cells family member 2 precursor
NM_032464.3 NP_115853.2 linker for activation of T-cells family member 2 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 SH2 domain binding IMP
IMP: 通过突变表型推断
14722116 GOA
enables SH2 domain binding IPI
IPI: 通过物理相互作用推断
20442417 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14722116 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell activation IDA
IDA: 通过直接分析推断
12514734 GOA
involved in B cell receptor signaling pathway IDA
IDA: 通过直接分析推断
12514734 GOA
involved in calcium-mediated signaling IGI
IGI: 通过遗传相互作用推断
14722116 GOA
involved in intracellular signal transduction IGI
IGI: 通过遗传相互作用推断
14722116 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane raft IDA
IDA: 通过直接分析推断
12486104 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
蛋白主名 其他名称

linker for activation of T-cells family member 2

Williams-Beuren syndrome chromosomal region 15 protein

重组 LAT2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71173 NTAL Protein, Human (HEK293, His) Q9GZY6 (R27-A243) ≥95%

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

Hernia, Hiatus

Hiatal Hernia

Hiatus Hernia

Diaphragmatic - Hiatus -Hernia

Hernia, Hiatal

Peptic Esophagitis

Reflux Esophagitis

Peptic Reflux Disease

Reflux Oesophagitis

Esophagitis, Peptic

Gastro-Esophageal Reflux Disease With Esophagitis

Bile Reflux
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta LAT2 VGNC VGNC:74040
Mus musculus LAT2 MGD MGI:1926479
Felis catus LAT2 VGNC VGNC:63200
Rattus norvegicus LAT2 RGD RGD:631397
Canis familiaris LAT2 VGNC VGNC:42597
Bos taurus LAT2 VGNC VGNC:30799