NFATC2 - nuclear factor of activated T cells 2 Gene

Also Known as NFAT1; NFATP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4773

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence Verweise Source
enables 14-3-3 protein binding EXP
EXP: Inferred from Experiment
29432148 GOA
enables molecular adaptor activity EXP
EXP: Inferred from Experiment
29432148 GOA
enables phosphatase binding IPI
IPI: Inferred from physical interaction
26248042 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16873067 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in B cell receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
17875758 GOA
involved in DNA damage response IMP
IMP: Inferred from mutant phenotype
17875758 GOA
involved in cartilage development IMP
IMP: Inferred from mutant phenotype
35789258 GOA
involved in cell migration IDA
IDA: Inferred from direct assay
21871017 GOA
involved in negative regulation of vascular associated smooth muscle cell differentiation IDA
IDA: Inferred from direct assay
23853098 GOA
involved in positive regulation of B cell proliferation IMP
IMP: Inferred from mutant phenotype
17875758 GOA
acts upstream of or within positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
15790681 GOA
involved in response to xenobiotic stimulus IMP
IMP: Inferred from mutant phenotype
17875758 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12656674 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12370307 GOA
part of transcription factor AP-1 complex IPI
IPI: Inferred from physical interaction
9510247 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NFATC2 Protein Structure

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.
Protein Preferred Names Protein Names

nuclear factor of activated T-cells, cytoplasmic 2

  • NF-ATc2

NFATC2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
NFATC2 Q13469 VRK2 Homo sapiens Q86Y07-1 23105117
Intra
NFATC2 Q13469 LRRK2 Homo sapiens Q5S007 21983832
Intra
NFATC2 Q13469 CREB1 Homo sapiens P16220
TAP
25609649
Intra
NFATC2 Q13469 USP22 Homo sapiens Q9UPT9 24561192
Cross: Cross-species interaction Intra: Intraspecies interaction

NFATC2 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P80242 NFAT1 Antibody (YA271) WB, ICC/IF, IHC-P, FC Human

Related Diseases

Diseases Alias
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]

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others NFATC2 NCBI