• Gene id: 4775

Gene Summary

• Gene Symbol: NFATC3   Gene   UCSC   Ensembl
• Aliases: NF-AT4c, NFAT4, NFATX
• Gene name: nuclear factor of activated T cells 3
• Alternate names: nuclear factor of activated T-cells, cytoplasmic 3, NF-ATc3, T cell transcription factor NFAT4, nuclear factor of activated T-cells c3 isoform IE-Xa, nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3,
• Gene location: 16q22.1 (34051662: 34102609)     Exons: 19     NC_000011.10
• Gene summary(Entrez): The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (
• OMIM: 602698

Protein Summary

• Protein general information: Q12968  
  • Name: Nuclear factor of activated T cells, cytoplasmic 3 (NF ATc3) (NFATc3) (NFATx) (T cell transcription factor NFAT4) (NF AT4) (NF AT4c)
  • Length: 1075  
  • Mass: 115594
  • Tissue specificity: Isoform 1 is predominantly expressed in thymus and is also found in peripheral blood leukocytes and kidney. Isoform 2 is predominantly expressed in skeletal muscle and is also found in thymus, kidney, testis, spleen, prostate, ovary, s
• Sequence:

  MTTANCGAHDELDFKLVFGEDGAPAPPPPGSRPADLEPDDCASIYIFNVDPPPSTLTTPLCLPHHGLPSHSSVLS
  PSFQLQSHKNYEGTCEIPESKYSPLGGPKPFECPSIQITSISPNCHQELDAHEDDLQINDPEREFLERPSRDHLY
  LPLEPSYRESSLSPSPASSISSRSWFSDASSCESLSHIYDDVDSELNEAAARFTLGSPLTSPGGSPGGCPGEETW
  HQQYGLGHSLSPRQSPCHSPRSSVTDENWLSPRPASGPSSRPTSPCGKRRHSSAEVCYAGSLSPHHSPVPSPGHS
  PRGSVTEDTWLNASVHGGSGLGPAVFPFQYCVETDIPLKTRKTSEDQAAILPGKLELCSDDQGSLSPARETSIDD
  GLGSQYPLKKDSCGDQFLSVPSPFTWSKPKPGHTPIFRTSSLPPLDWPLPAHFGQCELKIEVQPKTHHRAHYETE
  GSRGAVKASTGGHPVVKLLGYNEKPINLQMFIGTADDRYLRPHAFYQVHRITGKTVATASQEIIIASTKVLEIPL
  LPENNMSASIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHIPQPSGKVLSLQIASIPVECSQRSAQELP
  HIEKYSINSCSVNGGHEMVVTGSNFLPESKIIFLEKGQDGRPQWEVEGKIIREKCQGAHIVLEVPPYHNPAVTAA
  VQVHFYLCNGKRKKSQSQRFTYTPVLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICS
  IPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQ
  EFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVAD
  QITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSPLSGPPSPQLQPMPYQSPSSGTASSPSPATRMHSGQHS
  TQAQSTGQGGLSAPSSLICHSLCDPASFPPDGATVSIKPEPEDREPNFATIGLQDITLDDVNEIIGRDMSQISVS
  QGAGVSRQAPLPSPESLDLGRSDGL

• Structural information:
  • Protein Domains: (415..59-)
    (/note="RHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00265"-)
  • Interpro: IPR013783  IPR014756  IPR002909  IPR008366  IPR008967   IPR032397  IPR011539  IPR037059  
  • Prosite: PS50254
  • PDB: 2XRW 2XS0
  • PDBsum: 2XRW 2XS0
  • STRING: ENSP00000300659
• Other Databases: GeneCards:  NFATC3  Malacards:  NFATC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0033173	calcineurin-NFAT signaling cascade	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0001816	cytokine production	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
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:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006954	inflammatory response	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005634	nucleus	IDA	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:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:1905064	negative regulation of vascular smooth muscle cell differentiation	IDA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IGI	molecular function
GO:1902894	negative regulation of pri-miRNA transcription by RNA polymerase II	IGI	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
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
hsa05135	Yersinia infection
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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray