MNDA myeloid cell nuclear differentiation antigen [Homo sapiens (human)] - Gene

Summary

Official Symbol: MNDAprovided by HGNC
Official Full Name: myeloid cell nuclear differentiation antigenprovided by HGNC
Primary source: HGNC:HGNC:7183
See related: Ensembl:ENSG00000163563 MIM:159553; AllianceGenome:HGNC:7183
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PYHIN3
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-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 108.7), appendix (RPKM 52.2) and 7 other tissues See more
Orthologs: all
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Genomic context

Location:: 1q23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (158831351..158849502)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (157968444..157986571)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (158801141..158819292)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MNDA controls the expression of MCL-1 and BCL-2 in chronic lymphocytic leukemia cells.
Title: MNDA controls the expression of MCL-1 and BCL-2 in chronic lymphocytic leukemia cells.
IRTA1 and MNDA are useful markers in the differential diagnosis of marginal zone lymphomas (MZLs).
Title: IRTA1 and MNDA Expression in Marginal Zone Lymphoma: Utility in Differential Diagnosis and Implications for Classification.
MFC adds significant information on dyspoiesis in the diagnostic work up for MDS and provides prognostic information. MNDA expression can be assessed by MFC and may facilitate evaluation of dyspoiesis when added to MDS MFC panels.
Title: Flow cytometry in the diagnosis of myelodysplastic syndromes and the value of myeloid nuclear differentiation antigen.
MNDA expression is an independent marker for the evaluation of dyspoiesis and may be added to the standard panel for quantitative assessment by FCM.
Title: Value of Quantitative assessment of Myeloid Nuclear Differentiation Antigen expression and other flow cytometric parameters in the diagnosis of Myelodysplastic syndrome.
Studied the HIN domain of recombinant myeloid nuclear differentiation antigen (MNDA).
Title: Purification, characterization and docking studies of the HIN domain of human myeloid nuclear differentiation antigen (MNDA).
these data support the inclusion of MNDA in the diagnostic evaluation of extramedullary B-cell lymphomas, particularly those in which the differential diagnosis is between low-grade follicular lymphoma and marginal zone lymphoma.
Title: Myeloid cell nuclear differentiation antigen is expressed in a subset of marginal zone lymphomas and is useful in the differential diagnosis with follicular lymphoma.
Myeloid antigen expression is a predictor of a poor response to chemotherapy, and an adverse prognostic factor in adult T-lymphoblastic lymphoma, but not in children with T-LBL.
Title: Significance of myeloid antigen expression in precursor T lymphoblastic lymphoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of IFI200 gene polymorphisms with susceptibility to systemic lupus erythematosus.
MNDA expression is a useful tool for the recognition of nodal marginal zone lymphoma
Title: Identification of MNDA as a new marker for nodal marginal zone lymphoma.
MNDA has a role regulating programmed cell death in myeloid progenitor cells, and that its down-regulation in myelodysplastic syndromes is related to granulocyte-macrophage progenitor cell sensitivity to TRAIL-induced programmed cell death.
Title: Dysregulated human myeloid nuclear differentiation antigen expression in myelodysplastic syndromes: evidence for a role in apoptosis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of myeloid cell nuclear differentiation antigen (MNDA) in peptide-treated PBMCs	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2388 (e-PCR)
- UniSTS:69441

RH17742 (e-PCR)
- UniSTS:46693

SHGC-145403 (e-PCR)
- UniSTS:174554

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in activation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular defense response	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to interferon-beta	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: myeloid cell nuclear differentiation antigen

Names: epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002432.3 → NP_002423.1 myeloid cell nuclear differentiation antigen

See identical proteins and their annotated locations for NP_002423.1

Status: REVIEWED

Source sequence(s)

DB048114, M81750, N29376

Consensus CDS

CCDS1177.1

UniProtKB/Swiss-Prot

P41218

UniProtKB/TrEMBL

B2R829, Q5VUU6

Related

ENSP00000357123.4, ENST00000368141.5

Conserved Domains (2) summary

cd08305
Location:10 → 83

Pyrin; Pyrin: a protein-protein interaction domain

pfam02760
Location:208 → 374

HIN; HIN-200/IF120x domain