MNDA: Myeloid Cell Nuclear Differentiation Antigen
A key regulator of myeloid cell differentiation and innate immunity
Gene Information Card
| Symbol | MNDA |
|---|---|
| Full Name | Myeloid Cell Nuclear Differentiation Antigen |
| Gene Type | Protein coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 4332 ncbi.nlm.nih.gov/gene/4332 |
| Ensembl ID | ENSG00000163563 |
| UniProt ID | P41218 |
| OMIM ID | 159553 |
| HGNC ID | 7180 |
| Aliases | PYHIN3, IFI16B |
Description
MNDA (Myeloid Cell Nuclear Differentiation Antigen) is a protein-coding gene located on chromosome 1q22. It belongs to the PYHIN (pyrin and HIN domain) protein family, also known as the IFI200 family. MNDA is expressed specifically in cells of the myeloid lineage, including granulocytes, monocytes, and macrophages. The protein functions as a nuclear factor involved in the regulation of myeloid cell differentiation, cell cycle control, and innate immune responses. It can bind to double-stranded DNA and modulate transcription of target genes, particularly those involved in inflammation and hematopoiesis. MNDA expression is frequently altered in myeloid malignancies, suggesting a role in leukemogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | Reduced MNDA expression is associated with impaired myeloid differentiation and leukemic transformation. | Multiple studies show MNDA downregulation in AML patient samples; epigenetic silencing via promoter methylation is documented. |
| Myelodysplastic Syndromes (MDS) | Loss of MNDA expression may contribute to ineffective hematopoiesis and disease progression. | Gene expression profiling identifies MNDA as a marker for MDS; reduced expression correlates with higher risk subtypes. |
| Chronic Myeloid Leukemia (CML) | MNDA expression is altered in CML and may influence disease phenotype. | Observational studies report variable MNDA levels in CML cell lines and patient samples. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 45.2 | High |
| Spleen | 30.1 | High |
| Lung | 12.5 | Medium |
| Blood | 8.3 | Low |
| Lymph Node | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyelocytic leukemia) | 120.5 | High expression; model for myeloid differentiation |
| U937 (histiocytic lymphoma) | 95.3 | High expression; monocytic lineage |
| THP-1 (acute monocytic leukemia) | 88.7 | High expression; monocytic lineage |
| K562 (chronic myeloid leukemia) | 5.2 | Low expression; erythroid lineage |
| Jurkat (T-cell leukemia) | 1.1 | Very low expression; lymphoid lineage |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Rare variant; functional impact not characterized |
| c.200G>A (p.Arg67Gln) | Missense | <0.1% | Rare variant; functional impact not characterized |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations have been reported in MNDA. Reduced expression via epigenetic silencing is more common in disease.
Gain of Function (GOF)
No gain-of-function mutations have been described for MNDA.
Dominant Negative (DN)
No dominant-negative mutations have been reported for MNDA.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • double-stranded DNA binding |
| • protein binding | • nucleus |
| • nucleoplasm | • cytoplasm |
| • regulation of transcription by RNA polymerase II | • innate immune response |
| • myeloid cell differentiation | • cell cycle arrest |
| • negative regulation of cell proliferation | • positive regulation of interferon-gamma production |
Pathways
• Innate Immune System
• Interferon Signaling
• Myeloid Cell Differentiation
Protein Summary
The MNDA protein (UniProt P41218) is a 407-amino acid nuclear protein with a molecular weight of approximately 46 kDa. It contains an N-terminal pyrin domain (PYD) and a C-terminal HIN-200 domain, characteristic of the PYHIN protein family. The HIN domain mediates sequence-independent double-stranded DNA binding, while the PYD is involved in protein-protein interactions, particularly with other PYHIN family members and components of the inflammasome. MNDA functions as a transcriptional regulator, modulating the expression of genes involved in myeloid differentiation, cell cycle control, and innate immunity. It can induce cell cycle arrest and promote differentiation of myeloid progenitor cells. The protein is also implicated in the regulation of interferon-responsive genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MNDA Knockout HEK293 Cell Line | EDJ-KQ5226 | Human | 4332 | Details Get a Quote |
| MNDA Knockout HeLa Cell Line | EDJ-KQ53892 | Human | 4332 | Details Get a Quote |
| MNDA Knockout A-549 Cell Line | EDJ-KQ62384 | Human | 4332 | Details Get a Quote |
| MNDA Knockout HCT 116 Cell Line | EDJ-KQ70853 | Human | 4332 | Details Get a Quote |
