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3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DMAC2
distal membrane arm assembly component 2
Chromosome 19 · 19q13.2
NCBI Gene: 55101Ensembl: ENSG00000105341.19HGNC: HGNC:25496UniProt: B4DFT4
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial respiratory chain complex I assemblymitochondrionSCF-dependent proteasomal ubiquitin-dependent protein catabolic processSCF ubiquitin ligase complexandrogenetic alopeciaangina pectorisheart failureresponse to statin
✦AI Summary

DMAC2 (distal membrane arm assembly component 2) is a mitochondrial protein essential for complex I biogenesis. It is specifically required for assembly of the distal region of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I), a critical component of the electron transport chain. Beyond its structural role in oxidative phosphorylation, DMAC2 may participate in protein quality control through involvement in SCF ubiquitin ligase complex-mediated proteasomal degradation pathways. Recent genetic studies have identified DMAC2 as a disease-relevant locus in cardiovascular pathology. Specifically, DMAC2 alternative splicing patterns, which are regulated by both genetic variants and inflammatory signals (interleukin-1β), colocalize with genome-wide association study signals for coronary artery disease risk 1. This splicing-mediated genetic mechanism suggests that variation in DMAC2 isoform expression, particularly in endothelial cells responding to inflammatory stimuli, may contribute to individual cardiovascular disease susceptibility. The identification of DMAC2 as a genetically regulated splicing target provides a plausible molecular explanation linking mitochondrial complex I assembly function to atherosclerotic disease pathogenesis, highlighting the importance of energy metabolism in endothelial dysfunction.

Sources cited
1
DMAC2 splicing patterns colocalize with coronary artery disease risk loci and are regulated by genetics and inflammation in endothelial cells
PMID: 40766718
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
androgenetic alopeciaOpen Targets
0.11Weak
angina pectorisOpen Targets
0.10Suggestive
heart failureOpen Targets
0.07Suggestive
response to statinOpen Targets
0.07Suggestive
prostate carcinomaOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
poisoningOpen Targets
0.04Suggestive
prostate cancerOpen Targets
0.03Suggestive
hair colorOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMEM70Protein interaction85%FOXRED1Protein interaction85%DMAC1Protein interaction73%TMEM186Protein interaction73%FBXO48Shared pathway50%FBXO47Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Lung
50%
Liver
41%
Ovary
30%
Brain
28%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
DMAC2TMEM70FOXRED1DMAC1TMEM186FBXO48FBXO47
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NW81
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.75–1.32]
RankingsWhere DMAC2 stands among ~20K protein-coding genes
  • #12,545of 20,598
    Most Researched27
  • #13,856of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedDMAC2
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Inflammation-Induced Alternative Splicing in Human Endothelial Cells Reveals Genetic Mechanisms of Cardiovascular Disease Risk.
PMID: 40766718
bioRxiv · 2025
1.00
2
Five Novel Silver-Based Coordination Polymers as Photoluminescent Sensing Platforms for the Detection of Nitrobenzene.
PMID: 37293845
Chemistry · 2023
0.67
3
Solvo-thermal synthesis of a unique cluster-based nano-porous zinc(II) luminescent metal-organic framework for highly sensitive detection of anthrax biomarker and dichromate.
PMID: 35286888
Spectrochim Acta A Mol Biomol Spectrosc · 2022
0.33