1. Gene
  2. NFATC2 - nuclear factor of activated T cells 2 Gene

NFATC2 - nuclear factor of activated T cells 2 Gene

中文名称:活化 T 细胞核因子 2

种属: Homo sapiens

同用名: NFAT1; NFATP

基因 ID: 4773 | 基因类型: protein coding

关于 NFATC2

Cytogenetic location: 20q13.2 Genomic coordinates (GRCh38): 20:51,386,963-51,562,839 (from NCBI)

This gene has 7 transcripts (splice variants), 274 orthologues, 4 paralogues and is associated with 83 phenotypes. Broad expression in gall bladder (RPKM 9.1), lymph node (RPKM 6.9) and 25 other tissues.

功能概要

该基因是活化 T 细胞核因子 (NFAT) 家族的成员。该基因的产物是具有 REL 同源区 (RHR) 和 NFAT 同源区 (NHR) 的 DNA 结合蛋白。这种蛋白质存在于胞质溶胶中,仅在 T 细胞受体 (TCR) 刺激后转移到细胞核,在那里它成为活化 T 细胞转录复合物的核因子的成员。该复合物在免疫反应期间诱导基因转录中起着核心作用。编码不同亚型的替代转录剪接变体已经被表征。[RefSeq 提供,2012 年 4 月]

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]

NFATC2 基因产物(8)

mRNA Protein Name
NM_001136021.3 NP_001129493.1 nuclear factor of activated T-cells, cytoplasmic 2 isoform D
NM_001258292.2 NP_001245221.1 nuclear factor of activated T-cells, cytoplasmic 2 isoform E
NM_001258294.2 NP_001245223.1 nuclear factor of activated T-cells, cytoplasmic 2 isoform F
NM_001258295.2 NP_001245224.1 nuclear factor of activated T-cells, cytoplasmic 2 isoform G
NM_001258296.2 NP_001245225.1 nuclear factor of activated T-cells, cytoplasmic 2 isoform F
NM_001258297.2 NP_001245226.1 nuclear factor of activated T-cells, cytoplasmic 2 isoform G
NM_012340.5 NP_036472.2 nuclear factor of activated T-cells, cytoplasmic 2 isoform B
NM_173091.4 NP_775114.1 nuclear factor of activated T-cells, cytoplasmic 2 isoform C
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 14-3-3 protein binding EXP
EXP: 通过实验结果推断
29432148 GOA
enables molecular adaptor activity EXP
EXP: 通过实验结果推断
29432148 GOA
enables phosphatase binding IPI
IPI: 通过物理相互作用推断
26248042 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16873067 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell receptor signaling pathway IMP
IMP: 通过突变表型推断
17875758 GOA
involved in DNA damage response IMP
IMP: 通过突变表型推断
17875758 GOA
involved in cartilage development IMP
IMP: 通过突变表型推断
35789258 GOA
involved in cell migration IDA
IDA: 通过直接分析推断
21871017 GOA
involved in negative regulation of vascular associated smooth muscle cell differentiation IDA
IDA: 通过直接分析推断
23853098 GOA
involved in positive regulation of B cell proliferation IMP
IMP: 通过突变表型推断
17875758 GOA
acts upstream of or within positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
15790681 GOA
involved in response to xenobiotic stimulus IMP
IMP: 通过突变表型推断
17875758 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
12656674 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12370307 GOA
part of transcription factor AP-1 complex IPI
IPI: 通过物理相互作用推断
9510247 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

NFATC2 蛋白结构

RHD_DNA_bind

RHD_DNA_bind: Rel homology DNA-binding domain (410 - 570)

TIG

TIG: IPT/TIG domain (589 - 675)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 925 a.a.
蛋白主名 其他名称

nuclear factor of activated T-cells, cytoplasmic 2

NF-ATc2

NFATC2 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
Intra NFATC2 Q13469 VRK2 Homo sapiens Q86Y07-1
Anti Tag CoIP
23105117
Intra NFATC2 Q13469 LRRK2 Homo sapiens Q5S007
Anti Tag CoIP
21983832
Intra NFATC2 Q13469 CREB1 Homo sapiens P16220
TAP
25609649
Intra NFATC2 Q13469 USP22 Homo sapiens Q9UPT9
Anti Tag CoIP
24561192
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
Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Bone Epithelioid Hemangioma

Bone Hemangioma

Hemangioma Of Bone

Osseous Epithelioid Hemangioma

Osseous Hemangioma

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Leukostasis
Small Cell Osteogenic Sarcoma

Small Cell Osteosarcoma

Round Cell Osteosarcoma

Osteosarcoma Small Cell

Chondrosarcoma, Extraskeletal Myxoid

Extraskeletal Myxoid Chondrosarcoma

Emc

Myxoid Extraosseous Chondrosarcoma

Extraosseous Chondrosarcoma

Extraskeletal Myxoid Chondrosarcoma

Conventional Osteosarcoma

Intracortical Osteosarcoma

Conventional Central Osteosarcoma

Intracortical Osteogenic Sarcoma

Medullary Osteosarcoma

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Desmoplastic Small Round Cell Tumor

Dsrct

Desmoplastic Small Round-Cell Tumor

Desmoplastic Small Round-Cell Neoplasm

Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

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
Mus musculus NFATC2 MGD MGI:102463
Canis familiaris NFATC2 VGNC VGNC:43767
Rattus norvegicus NFATC2 RGD RGD:1307690
Bos taurus NFATC2 VGNC VGNC:32031
Felis catus NFATC2 VGNC VGNC:68470
Macaca mulatta NFATC2 VGNC VGNC:75327