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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MCIDAS
multiciliate differentiation and DNA synthesis associated cell cycle protein
Chromosome 5 Β· 5q11.2
NCBI Gene: 345643Ensembl: ENSG00000234602.9HGNC: HGNC:40050UniProt: D6RGH6
14PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingregulation of cilium assemblynuclear bodynucleusprimary ciliary dyskinesiaHydrocephalusarachnoid cystneurodegenerative disease
✦AI Summary

MCIDAS is a transcription regulator essential for multiciliated cell (MCC) differentiation and centriole biogenesis. It acts as a master regulator that forms a multiprotein complex with E2F4 and E2F5 to activate genes required for centriole biogenesis and multiciliogenesis 1. MCIDAS operates hierarchically upstream of FOXJ1 and CCNO in the multiciliogenesis pathway 23. Mechanistically, MCIDAS undergoes nuclear-cytoplasmic translocation via CRM1-dependent export, where it organizes massive de novo centriole biogenesis in the cytoplasm alongside E2F4/E2F5 4. Loss of MCIDAS blocks centriole assembly and multiciliation 4. Disease relevance includes primary ciliary dyskinesia type 42, where bi-allelic mutations cause infertility due to abnormal multiciliated cell development in efferent ducts and oviducts 35. MCIDAS deficiency results in significantly reduced basal bodies and abnormal MCCs in reproductive tract epithelium 3. The gene is also implicated in choroid plexus carcinoma development, where disruption of the GMNC-MCIDAS program contributes to tumorigenesis 6. Clinically, IVF/ICSI has shown success in treating infertility associated with MCIDAS mutations 3.

Sources cited
1
MCIDAS is a transcription regulator that activates key transcription factors including FOXJ1 during multiciliogenesis
PMID: 32362381
2
MCIDAS operates hierarchically upstream of FOXJ1 and is necessary for multiciliated ependymal cell generation
PMID: 26395491
3
Bi-allelic mutations in MCIDAS cause infertility with abnormal multiciliated cells in reproductive tract epithelium
PMID: 34569065
4
MCIDAS undergoes nuclear-cytoplasmic translocation and organizes massive centriole biogenesis with E2F4/E2F5
PMID: 40974574
5
MCIDAS deficiency causes male infertility due to defective efferent duct multiciliogenesis
PMID: 30936178
6
Disruption of GMNC-MCIDAS program is critical in choroid plexus carcinoma development
PMID: 35322202
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.78Strong
HydrocephalusOpen Targets
0.38Weak
arachnoid cystOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
Merkel cell skin cancerOpen Targets
0.03Suggestive
ring chromosome YOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
intestinal diseaseOpen Targets
0.02Suggestive
gastrointestinal diseaseOpen Targets
0.02Suggestive
small cell lung carcinomaOpen Targets
0.02Suggestive
colorectal adenocarcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
adenomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Ciliary dyskinesia, primary, 42UniProt
Pathogenic Variants17
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2024β†’ Residue 335
NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His)Likely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 384
NM_001190787.3(MCIDAS):c.606+1G>ALikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025
NM_001190787.3(MCIDAS):c.72dup (p.Leu25fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 25
NM_001190787.3(MCIDAS):c.607-1G>TPathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2024
NM_001190787.3(MCIDAS):c.120+2T>CLikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2024
NM_001190787.3(MCIDAS):c.135del (p.Lys46fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2023β†’ Residue 46
NM_001190787.3(MCIDAS):c.149del (p.Gly50fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2023β†’ Residue 50
NM_001190787.3(MCIDAS):c.501del (p.Pro168fs)Likely pathogenic
Ciliary dyskinesia, primary, 42
β˜…β˜†β˜†β˜†2023β†’ Residue 168
NM_001190787.3(MCIDAS):c.235del (p.Leu79fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2022β†’ Residue 79
NM_001190787.3(MCIDAS):c.662_678del (p.Asn221fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2022β†’ Residue 221
NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)Likely pathogenic
Ciliary dyskinesia, primary, 42|Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2022β†’ Residue 381
NM_001190787.3(MCIDAS):c.625C>T (p.Gln209Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2019β†’ Residue 209
NM_001190787.3(MCIDAS):c.717+2T>GPathogenic
Ciliary dyskinesia, primary, 42
β˜†β˜†β˜†β˜†2019
NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter)Pathogenic
Ciliary dyskinesia, primary, 42
β˜†β˜†β˜†β˜†2019β†’ Residue 147
NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp)Pathogenic
Ciliary dyskinesia, primary, 42
β˜†β˜†β˜†β˜†2019β†’ Residue 366
NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr)Pathogenic
Primary ciliary dyskinesia 3
β˜†β˜†β˜†β˜†β†’ Residue 149
View on ClinVar β†—
Related Genes
E2F5Protein interaction93%FOXJ1Protein interaction80%CCNOProtein interaction72%GMNNProtein interaction70%E2F4Protein interaction69%GMNCProtein interaction59%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
7%
Lung
7%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
MCIDASE2F5FOXJ1CCNOGMNNE2F4GMNC
PROTEIN STRUCTURE
Preparing viewer…
PDB4BRY Β· 2.89 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.99LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.50–0.99]
RankingsWhere MCIDAS stands among ~20K protein-coding genes
  • #15,922of 20,598
    Most Researched14
  • #2,374of 5,498
    Most Pathogenic Variants17
  • #9,493of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedMCIDAS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
1.00
2
Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.
PMID: 34569065
Clin Genet Β· 2021
0.90
3
Nuclear-cytoplasmic translocation of MCIDAS couples transcription with massive de novo centriole biogenesis in multiciliated cells.
PMID: 40974574
Cell Rep Β· 2025
0.80
4
Transcriptional regulation of multiciliated cell differentiation.
PMID: 32362381
Semin Cell Dev Biol Β· 2021
0.70
5
Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development.
PMID: 35322202
Cell Death Differ Β· 2022
0.60