Gene Gene information from NCBI Gene database.
Entrez ID 4332
Gene name Myeloid cell nuclear differentiation antigen
Gene symbol MNDA
Synonyms (NCBI Gene)
PYHIN3
Chromosome 1
Chromosome location 1q23.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT029540 hsa-miR-26b-5p Microarray 19088304
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Unknown 8809111
SPI1 Unknown 8809111
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0002218 Process Activation of innate immune response IBA
GO:0002218 Process Activation of innate immune response IEA
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IBA
GO:0005515 Function Protein binding IPI 23455924, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
159553 7183 ENSG00000163563
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41218
Protein name Myeloid cell nuclear differentiation antigen
Protein function May act as a transcriptional activator/repressor in the myeloid lineage. Plays a role in the granulocyte/monocyte cell-specific response to interferon. Stimulates the DNA binding of the transcriptional repressor protein YY1.
PDB 2DBG , 5H7Q , 5WPZ , 8I6K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 8 80 PAAD/DAPIN/Pyrin domain Domain
PF02760 HIN 208 374 HIN-200/IF120x domain Family
Tissue specificity 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
MVNEYKKILLLKGFELMDDYHFTSIKSLLAYDLGLTTKMQEEYNRIKITDLMEKKFQGVA
CLDKLIELAKDMPSLKNLVN
NLRKEKSKVAKKIKTQEKAPVKKINQEEVGLAAPAPTARN
KLTSEARGRIPVAQKRKTPNKEKTEAKRNKVSQEQSKPPGPSGASTSAAVDHPPLPQTSS
STPSNTSFTPNQETQAQRQVDARRNVPQNDPVTVVVLKATAPFKYESPENGKSTMFHATV
ASKTQYFHVKVFDINLKEKFVRKKVITISDYSECKGVMEIKEASSVSDFNQNFEVPNRII
EIANKTPKISQLYKQASGTMVYGLFMLQKKSVHKKNTIYEIQDNTGSMDVVGSGKWHNIK
CEKGDKLRLFCLQL
RTVDRKLKLVCGSHSFIKVIKAKKNKEGPMNVN
Sequence length 407
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TYPE 1 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 11436088 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 11436088
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis LHGDN 15778972
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 19474799, 30640752
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 19474799
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 36165492 Associate
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 28594133
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Gestational diabetes Pubtator 40055514 Stimulate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 37773841 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 23637351 Associate
★☆☆☆☆
Found in Text Mining only