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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DCDC1
doublecortin domain containing 1
Chromosome 11 Β· 11p14.1-p13
NCBI Gene: 341019Ensembl: ENSG00000170959.15HGNC: HGNC:20625UniProt: A0A804HJA9
24PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmicrotubule bindingmidbodymitotic spindleosteoarthritismajor depressive disorderAbnormality of the skeletal systemglaucoma
✦AI Summary

DCDC1 (doublecortin domain containing 1) is a microtubule-binding protein located on chromosome 11 that plays important roles in cellular transport and development 1. The protein contains a doublecortin domain that enables microtubule binding and polymerization functions 1. DCDC1 mediates dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis, indicating a crucial role in cell division 2. The gene shows tissue-specific expression patterns, with high expression in adult testis and notably higher expression in fetal brain compared to adult brain 1. DCDC1 has clinical significance in several disease contexts. Deletions involving DCDC1 in the 11p13 region have been associated with aniridia, a rare eye disorder characterized by iris hypoplasia 345. Interestingly, homozygous DCDC1 deletions can cause isolated aniridia even without affecting the nearby PAX6 gene, suggesting independent pathogenic mechanisms 6. DCDC1 mutations have also been identified as significantly mutated in various cancers including gastric linitis plastica and esophageal squamous cell carcinoma 78. These findings indicate DCDC1's importance in both developmental processes and disease pathogenesis, though the precise mechanisms linking DCDC1 dysfunction to these conditions require further investigation.

Sources cited
1
DCDC1 contains a doublecortin domain for microtubule binding, is located on 11p13, and shows high expression in testis and fetal brain
PMID: 12820024
2
DCDC1 mediates dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis
PMID: 22159412
3
DCDC1 deletions in 11p13 region are associated with aniridia
PMID: 21364908
4
DCDC1 deletions identified in Vietnamese patients with aniridia
PMID: 34566401
5
Novel chromosome 11p deletions including DCDC1 associated with aniridia
PMID: 29217025
6
Homozygous DCDC1 deletion causes isolated aniridia without PAX6 involvement
PMID: 34773354
7
DCDC1 identified as significantly mutated gene in gastric linitis plastica
PMID: 36450891
8
DCDC1 identified as significantly mutated gene in esophageal squamous cell carcinoma
PMID: 29127303
Disease Associationsβ“˜20
osteoarthritisOpen Targets
0.41Moderate
major depressive disorderOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.35Weak
glaucomaOpen Targets
0.32Weak
Abnormal urine sodium concentrationOpen Targets
0.32Weak
ovarian dysfunctionOpen Targets
0.30Weak
Abnormal blistering of the skinOpen Targets
0.28Weak
breast adenosisOpen Targets
0.28Weak
parasitic infectionOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.26Weak
substance abuseOpen Targets
0.26Weak
smoking initiationOpen Targets
0.25Weak
corneal edemaOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.24Weak
hypertrophic cardiomyopathyOpen Targets
0.23Weak
Myocardial IschemiaOpen Targets
0.23Weak
hypertensionOpen Targets
0.23Weak
goutOpen Targets
0.21Weak
joint diseaseOpen Targets
0.21Weak
spondylosisOpen Targets
0.19Weak
Pathogenic Variants1
NM_001387274.1(DCDC1):c.5097C>A (p.Cys1699Ter)Likely pathogenic
Susceptibility to severe COVID-19
β˜…β˜†β˜†β˜†2024β†’ Residue 1699
View on ClinVar β†—
Related Genes
MPPED2Protein interaction91%ELP4Protein interaction91%PAX6Protein interaction83%IMMP1LProtein interaction79%DCXProtein interaction77%DNAJC24Protein interaction71%
Tissue Expression6 tissues
Liver
100%
Ovary
15%
Brain
13%
Lung
7%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
DCDC1MPPED2ELP4PAX6IMMP1LDCXDNAJC24
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt B6ZDN3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.82–1.09]
RankingsWhere DCDC1 stands among ~20K protein-coding genes
  • #13,168of 20,598
    Most Researched24
  • #5,327of 5,498
    Most Pathogenic Variants1
  • #11,144of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedDCDC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of a novel human doublecortin-domain-containing gene (DCDC1) expressed mainly in testis.
PMID: 12820024
J Hum Genet Β· 2003
1.00
2
Comprehensive transcriptomic profiling and mutational landscape of primary gastric linitis plastica.
PMID: 36450891
Gastric Cancer Β· 2023
0.90
3
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
PMID: 34773354
Am J Med Genet A Β· 2022
0.80
4
Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.
PMID: 29127303
Sci Rep Β· 2017
0.70
5
Whole-exome sequencing and copy number alterations analysis in a case of expansive florid cemento-osseous dysplasia.
PMID: 39109314
Clin Case Rep Β· 2024
0.60