NFATC2 - nuclear factor of activated T cells 2 Gene

Homo sapiens

Also known as NFAT1; NFATP

Gene ID: 4773 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

TIG

0
200
400
600
800
925 a.a.

Protein Preferred Names

Protein Names

nuclear factor of activated T-cells, cytoplasmic 2

NF-ATc2

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162280	PROTAC BTK Degrader-9		/	Unkown
HY-RS09239	NFATC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09240	NFATC2IP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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