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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DCDC2C
doublecortin domain containing 2C
Chromosome 2 · 2p25.3
NCBI Gene: 728597Ensembl: ENSG00000214866.9HGNC: HGNC:32696UniProt: A8MYV0
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmsperm flagellumsperm end piecemicrotubule organizing centerbenign chondrogenic neoplasmovarian neoplasmglomerulonephritismacular degeneration
✦AI Summary

DCDC2C (doublecortin domain containing 2C) is a cytoplasmic protein localized to sperm flagellar structures and microtubule organizing centers. The gene encodes a product with important roles in sperm flagellar microtubule dynamics and organization 1, as demonstrated through integrated genomics analysis validating DCDC2C expression in male germline differentiation. DCDC2C associates with multiple complex diseases through genome-wide association studies. A Chinese multicenter study identified a novel SNP in DCDC2C significantly associated with primary restless legs syndrome (RLS) susceptibility, alongside previously established RLS loci 2. Additionally, variants in DCDC2C showed association with Salmonella susceptibility in pigs, potentially implicating roles in bacterial defense mechanisms including neutrophil recruitment and intracellular bacterial killing 3. Epigenetic analysis revealed DCDC2C loci colocalize with chr2 obstructive pulmonary disease (COPD) genome-wide association signals through DNA methylation quantitative trait loci mechanisms, suggesting genetic control of methylation contributes to COPD pathogenesis 4. Transcriptomic meta-analysis identified DCDC2C among genes showing differential expression in stress response studies, though direct mechanistic roles remain insufficiently characterized 5. Overall, DCDC2C represents a pleiotropic locus with demonstrated importance in sperm motility and emerging associations with neurological, pulmonary, and infectious disease susceptibility.

Sources cited
1
DCDC2C expression validated in sperm flagellum and important for flagellar microtubule dynamics
PMID: 28395323
2
Novel DCDC2C SNP associated with primary restless legs syndrome in Chinese population
PMID: 38531167
3
DCDC2C variants associated with Salmonella susceptibility in pigs
PMID: 32414370
4
DCDC2C loci colocalize with COPD GWAS signals through DNA methylation mechanisms
PMID: 29313708
5
DCDC2C identified with differential expression in stress response transcriptomic meta-analysis
PMID: 35405299
Disease Associationsⓘ20
benign chondrogenic neoplasmOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.24Weak
glomerulonephritisOpen Targets
0.24Weak
macular degenerationOpen Targets
0.24Weak
cervical carcinomaOpen Targets
0.20Weak
idiopathic pulmonary fibrosisOpen Targets
0.20Weak
type 1 diabetes nephropathyOpen Targets
0.20Weak
exostosisOpen Targets
0.19Weak
respiratory system diseaseOpen Targets
0.19Weak
restless legs syndromeOpen Targets
0.16Weak
endocrine neoplasmOpen Targets
0.16Weak
smoking initiationOpen Targets
0.16Weak
Abruptio PlacentaeOpen Targets
0.15Weak
knee fractureOpen Targets
0.15Weak
trauma complicationOpen Targets
0.15Weak
adolescent idiopathic scoliosisOpen Targets
0.14Weak
diabetic nephropathyOpen Targets
0.13Weak
diaphragm diseaseOpen Targets
0.12Weak
movement disorderOpen Targets
0.12Weak
methylmalonic aciduria and homocystinuria type cblCOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CAPSShared pathway100%MTCP1Shared pathway100%PPP1R1AShared pathway100%TCL1AShared pathway100%SH3BP5Shared pathway100%TCL1BShared pathway100%
Tissue Expression6 tissues
Ovary
100%
Brain
50%
Bone Marrow
50%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
DCDC2CCAPSMTCP1PPP1R1ATCL1ASH3BP5TCL1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A8MYV0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.50LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.17 [0.91–1.50]
RankingsWhere DCDC2C stands among ~20K protein-coding genes
  • #17,306of 20,598
    Most Researched9
  • #15,163of 17,882
    Most Constrained (LOEUF)1.50
Genes detectedDCDC2C
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Clinical features, polysomnography, and genetics association study of restless legs syndrome in clinic based Chinese patients: A multicenter observational study.
PMID: 38531167
Sleep Med · 2024
1.00
2
Defining the human sperm microtubulome: an integrated genomics approach.
PMID: 28395323
Biol Reprod · 2017
0.80
3
Identification of single-nucleotide variants associated with susceptibility to Salmonella in pigs using a genome-wide association approach.
PMID: 32414370
BMC Vet Res · 2020
0.60
4
Human Lung DNA Methylation Quantitative Trait Loci Colocalize with Chronic Obstructive Pulmonary Disease Genome-Wide Association Loci.
PMID: 29313708
Am J Respir Crit Care Med · 2018
0.40
5
Stress and the brain transcriptome: Identifying commonalities and clusters in standardized data from published experiments.
PMID: 35405299
Prog Neuropsychopharmacol Biol Psychiatry · 2022
0.20