• Gene id: 4332

Gene Summary

• Gene Symbol: MNDA   Gene   UCSC   Ensembl
• Aliases: PYHIN3
• Gene name: myeloid cell nuclear differentiation antigen
• Alternate names: myeloid cell nuclear differentiation antigen, epididymis secretory sperm binding protein,
• Gene location: 1q23.1 (206765387: 206796188)     Exons: 12     NC_000002.12
• Gene summary(Entrez): The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-indu
• OMIM: 159553

Protein Summary

• Protein general information: P41218  
  • Name: Myeloid cell nuclear differentiation antigen
  • Length: 407  
  • Mass: 45836
  • Tissue specificity: Expressed constitutively in cells of the myeloid lineage. Found in promyelocyte stage cells as well as in all other stage cells including peripheral blood monocytes and granulocytes. Also appears in myeloblast cells in some cases of ac
• Sequence:

  MVNEYKKILLLKGFELMDDYHFTSIKSLLAYDLGLTTKMQEEYNRIKITDLMEKKFQGVACLDKLIELAKDMPSL
  KNLVNNLRKEKSKVAKKIKTQEKAPVKKINQEEVGLAAPAPTARNKLTSEARGRIPVAQKRKTPNKEKTEAKRNK
  VSQEQSKPPGPSGASTSAAVDHPPLPQTSSSTPSNTSFTPNQETQAQRQVDARRNVPQNDPVTVVVLKATAPFKY
  ESPENGKSTMFHATVASKTQYFHVKVFDINLKEKFVRKKVITISDYSECKGVMEIKEASSVSDFNQNFEVPNRII
  EIANKTPKISQLYKQASGTMVYGLFMLQKKSVHKKNTIYEIQDNTGSMDVVGSGKWHNIKCEKGDKLRLFCLQLR
  TVDRKLKLVCGSHSFIKVIKAKKNKEGPMNVN

• Structural information:
  • Protein Domains: (1..8-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (196..39-)
    (/note="HIN-200-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00106"-)
  • Interpro: IPR004020  IPR040205  IPR004021  
  • Prosite: PS50824 PS50834
  • PDB: 2DBG 5H7Q 5WPZ
  • PDBsum: 2DBG 5H7Q 5WPZ
  • STRING: ENSP00000357123
• Other Databases: GeneCards:  MNDA  Malacards:  MNDA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0035458	cellular response to interferon-beta	IBA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IBA	biological process
GO:0002218	activation of innate immune response	IBA	biological process
GO:0002218	activation of innate immune response	IEA	biological process
GO:0035458	cellular response to interferon-beta	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0050853	B cell receptor signaling pathway	IMP	biological process
GO:0030889	negative regulation of B cell proliferation	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process

Diseases

Associated diseases	References
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)