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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DCAKD
dephospho-CoA kinase domain containing
Chromosome 17 · 17q21.31
NCBI Gene: 79877Ensembl: ENSG00000172992.14HGNC: HGNC:26238UniProt: Q8WVC6
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
dephospho-CoA kinase activitymembranecoenzyme A biosynthetic processmitochondrial outer membranehypertensioncerebral small vessel diseaseSensorineural hearing impairmentIncreased blood pressure
✦AI Summary

DCAKD (dephospho-CoA kinase domain containing) is a gene located on chromosome 17 that encodes a protein with dephospho-CoA kinase activity involved in coenzyme A biosynthesis 1. Based on Gene Ontology annotations, DCAKD localizes to the mitochondrial outer membrane and participates in CoA biosynthetic processes, suggesting a role in cellular energy metabolism and cofactor homeostasis. Clinically, DCAKD has emerged as a novel susceptibility gene for idiopathic inflammatory myopathies (IIMs, myositis), a group of rare autoimmune disorders causing muscle inflammation and weakness 1. Fine-mapping and expression quantitative trait locus colocalization analyses identified putative causal variants in DCAKD within skin and muscle tissues, indicating direct relevance to myositis pathogenesis 1. Additionally, DCAKD has been implicated in neurological contexts, with eQTL-derived expression scores showing associations with white matter microstructural integrity measures, and the gene appearing in analyses of neurodegenerative disease mechanisms including Parkinson's disease and Huntington's disease transitions 234. DCACKD was also identified as a marker gene in epigenome-wide methylation studies of COVID-19 patients, with differential methylation in its promoter region 5. These findings suggest DCAKD functions at the intersection of metabolic regulation and immune/neurological disease pathogenesis, though its precise molecular mechanisms in these contexts require further investigation.

Sources cited
1
DCAKD identified as novel susceptibility gene for idiopathic inflammatory myopathies with putative causal variants in skin and muscle tissues
PMID: 39679859
2
DCAKD eQTL scores associated with white matter microstructure and involved in neurite outgrowth and Parkinson's disease-related processes
PMID: 32066731
3
DCAKD identified as cis-regulated target in Parkinson disease GWAS locus analysis in brain tissue
PMID: 23071545
4
DCAKD appears among differentially expressed genes in Huntington's disease progression analyses
PMID: 33049985
5
DCAKD identified as marker gene with differential DNA methylation in promoter region in COVID-19 patients
PMID: 34185889
Disease Associationsⓘ20
hypertensionOpen Targets
0.16Weak
cerebral small vessel diseaseOpen Targets
0.16Weak
Sensorineural hearing impairmentOpen Targets
0.14Weak
Increased blood pressureOpen Targets
0.11Weak
insomniaOpen Targets
0.08Suggestive
multisite chronic painOpen Targets
0.07Suggestive
familial glucocorticoid deficiencyOpen Targets
0.07Suggestive
plasma fibronectin deficiencyOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
asthmaOpen Targets
0.06Suggestive
cardiovascular diseaseOpen Targets
0.06Suggestive
secondary malignant neoplasmOpen Targets
0.05Suggestive
congenital enteropathy due to enteropeptidase deficiencyOpen Targets
0.04Suggestive
gastroesophageal reflux diseaseOpen Targets
0.04Suggestive
congenital lethal erythrodermaOpen Targets
0.04Suggestive
gastric mucosal hypertrophyOpen Targets
0.04Suggestive
diverticular diseaseOpen Targets
0.04Suggestive
Hereditary persistence of alpha-fetoproteinOpen Targets
0.04Suggestive
nephrotic syndrome 15Open Targets
0.03Suggestive
Deafness - small bowel diverticulosis - neuropathyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PANK1Shared pathway100%PPCDCShared pathway100%COASYProtein interaction84%ADSLProtein interaction82%ATP6V1FProtein interaction79%NEIL3Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Heart
99%
Ovary
79%
Liver
64%
Lung
36%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
DCAKDPANK1PPCDCCOASYADSLATP6V1FNEIL3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8WVC6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.52–1.16]
RankingsWhere DCAKD stands among ~20K protein-coding genes
  • #8,305of 20,598
    Most Researched54
  • #12,167of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedDCAKD
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses.
PMID: 39679859
Arthritis Rheumatol · 2025
1.00
2
An epigenome-wide DNA methylation study of patients with COVID-19.
PMID: 34185889
Ann Hum Genet · 2021
0.80
3
Investigating the Transition of Pre-Symptomatic to Symptomatic Huntington's Disease Status Based on Omics Data.
PMID: 33049985
Int J Mol Sci · 2020
0.60
4
Evaluation of Parkinson disease risk variants as expression-QTLs.
PMID: 23071545
PLoS One · 2012
0.40
5
Expression quantitative trait loci-derived scores and white matter microstructure in UK Biobank: a novel approach to integrating genetics and neuroimaging.
PMID: 32066731
Transl Psychiatry · 2020
0.20