MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 345643
Gene name Multiciliate differentiation and DNA synthesis associated cell cycle protein
Gene symbol MCIDAS
Synonyms (NCBI Gene)
CILD42IDASMCIMCIN
Chromosome 5
Chromosome location 5q11.2
Summary This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with r
SNPs SNP information provided by dbSNP.
5
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs777031813 G>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs797045151 C>T Pathogenic Coding sequence variant, missense variant
rs797045152 C>A,T Pathogenic Coding sequence variant, missense variant
rs1561117442 C>- Pathogenic Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1580402818 A>C Pathogenic Splice donor variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21543332, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 21543332, 25048963
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614086 40050 ENSG00000234602
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
D6RGH6
Protein name Multicilin (Multiciliate differentiation and DNA synthesis-associated cell cycle protein) (McIdas protein) (Protein Idas)
Protein function Transcription regulator specifically required for multiciliate cell differentiation (PubMed:25048963). Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deu
PDB 4BRY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07412 Geminin 174 → 262 Geminin Family
Sequence 
MQACGGGAAGRRAFDSICPNRMLALPGRALLCKPGKPERKFAPPRKFFPGCTGGSPVSVY
EDPPDAEPTALPALTTIDLQDLADCSSLLGSDAPPGGDLAASQNHSHQTEADFNLQDFRD
TVDDLISDSSSMMSPTLASGDFPFSPCDISPFGPCLSPPLDPRALQSPPLRPPDVPPPEQ
YWKEVADQNQRALGDALVENNQLHVTLTQKQEEIASLKERNVQLKELASRTRHLASVLDK
LMITQSRDCGAAAEPFLLKAKAKRSLEELVSAAGQDCAEVDAILREISERCDEALQSRDP
KRPRLLPEPANTDTRPGNLHGAFRGLRTDCSRSALNLSHSELEEGGSFSTRIRSHSTIRT
LAFPQGNAFTIRTANGGYKFRWVPS
Sequence length 385
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
167
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ciliary dyskinesia, primary, 42 Likely pathogenic; Pathogenic rs797045152, rs797045151, rs777031813, rs2478513634, rs1580402818 RCV000983978
RCV000983979
RCV000983977
RCV003493236
RCV000983980
Primary ciliary dyskinesia Pathogenic; Likely pathogenic rs2111702150, rs1745349301, rs797045152, rs2478527360, rs1478876274, rs1561117442, rs1291689114, rs1745348853 RCV001922645
RCV004798962
RCV001852538
RCV002791906
RCV003002805
RCV000685117
RCV001044059
RCV001202944
Primary ciliary dyskinesia 3 Pathogenic rs2478513916 RCV003234815
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MCIDAS-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs185737637, rs747068702, rs1001897568, rs771063151, rs751433727, rs577029897 RCV003929950
RCV003410861
RCV004755949
RCV003935393
RCV003945580
RCV003935747
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35902387
Carcinogenesis Associate 28257124
Ciliary Motility Disorders Associate 25048963, 33795320
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 25048963
Neoplasms Associate 28257124
Ocular Motility Disorders Associate 25048963
Polyps Associate 28257124