• Gene id: 4773

Gene Summary

• Gene Symbol: NFATC2   Gene   UCSC   Ensembl
• Aliases: NFAT1, NFATP
• Gene name: nuclear factor of activated T cells 2
• Alternate names: nuclear factor of activated T-cells, cytoplasmic 2, NF-ATc2, NFAT pre-existing subunit, NFAT transcription complex, preexisting component, T cell transcription factor NFAT1, nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2, nuclear fact,
• Gene location: 20q13.2 (51562856: 51386962)     Exons: 13     NC_000020.11
• Gene summary(Entrez): 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 transloca
• OMIM: 600490

Protein Summary

• Protein general information: Q13469  
  • Name: Nuclear factor of activated T cells, cytoplasmic 2 (NF ATc2) (NFATc2) (NFAT pre existing subunit) (NF ATp) (T cell transcription factor NFAT1)
  • Length: 925  
  • Mass: 100146
  • Tissue specificity: Expressed in thymus, spleen, heart, testis, brain, placenta, muscle and pancreas. Isoform 1 is highly expressed in the small intestine, heart, testis, prostate, thymus, placenta and thyroid. Isoform 3 is highly expressed in stomach, ut
• Sequence:

  MNAPERQPQPDGGDAPGHEPGGSPQDELDFSILFDYEYLNPNEEEPNAHKVASPPSGPAYPDDVLDYGLKPYSPL
  ASLSGEPPGRFGEPDRVGPQKFLSAAKPAGASGLSPRIEITPSHELIQAVGPLRMRDAGLLVEQPPLAGVAASPR
  FTLPVPGFEGYREPLCLSPASSGSSASFISDTFSPYTSPCVSPNNGGPDDLCPQFQNIPAHYSPRTSPIMSPRTS
  LAEDSCLGRHSPVPRPASRSSSPGAKRRHSCAEALVALPPGASPQRSRSPSPQPSSHVAPQDHGSPAGYPPVAGS
  AVIMDALNSLATDSPCGIPPKMWKTSPDPSPVSAAPSKAGLPRHIYPAVEFLGPCEQGERRNSAPESILLVPPTW
  PKPLVPAIPICSIPVTASLPPLEWPLSSQSGSYELRIEVQPKPHHRAHYETEGSRGAVKAPTGGHPVVQLHGYME
  NKPLGLQIFIGTADERILKPHAFYQVHRITGKTVTTTSYEKIVGNTKVLEIPLEPKNNMRATIDCAGILKLRNAD
  IELRKGETDIGRKNTRVRLVFRVHIPESSGRIVSLQTASNPIECSQRSAHELPMVERQDTDSCLVYGGQQMILTG
  QNFTSESKVVFTEKTTDGQQIWEMEATVDKDKSQPNMLFVEIPEYRNKHIRTPVKVNFYVINGKRKRSQPQHFTY
  HPVPAIKTEPTDEYDPTLICSPTHGGLGSQPYYPQHPMVAESPSCLVATMAPCQQFRTGLSSPDARYQQQNPAAV
  LYQRSKSLSPSLLGYQQPALMAAPLSLADAHRSVLVHAGSQGQSSALLHPSPTNQQASPVIHYSPTNQQLRCGSH
  QEFQHIMYCENFAPGTTRPGPPPVSQGQRLSPGSYPTVIQQQNATSQRAAKNGPPVSDQKEVLPAGVTIKQEQNL
  DQTYLDDVNEIIRKEFSGPPARNQT

• Structural information:
  • Protein Domains: (392..57-)
    (/note="RHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00265"-)
  • Interpro: IPR013783  IPR014756  IPR002909  IPR008366  IPR008967   IPR032397  IPR011539  IPR037059  
  • Prosite: PS50254
  • PDB: 1A02 1OWR 1P7H 1PZU 1S9K 2AS5 2O93 3QRF
  • PDBsum: 1A02 1OWR 1P7H 1PZU 1S9K 2AS5 2O93 3QRF
  • DIP: 27630
  • STRING: ENSP00000379330
• Other Databases: GeneCards:  NFATC2  Malacards:  NFATC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0001816	cytokine production	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0033173	calcineurin-NFAT signaling cascade	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0016477	cell migration	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0045589	regulation of regulatory T cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0014904	myotube cell development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:1901741	positive regulation of myoblast fusion	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0033173	calcineurin-NFAT signaling cascade	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001816	cytokine production	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1905064	negative regulation of vascular smooth muscle cell differentiation	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0019902	phosphatase binding	IPI	molecular function
GO:0050853	B cell receptor signaling pathway	IMP	biological process
GO:0042493	response to drug	IMP	biological process
GO:0030890	positive regulation of B cell proliferation	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa04310	Wnt signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04921	Oxytocin signaling pathway
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04380	Osteoclast differentiation
hsa05135	Yersinia infection
hsa04650	Natural killer cell mediated cytotoxicity
hsa04625	C-type lectin receptor signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04659	Th17 cell differentiation
hsa04662	B cell receptor signaling pathway
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa04658	Th1 and Th2 cell differentiation
hsa04370	VEGF signaling pathway
P06959	CCKR signaling map

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq