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

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
345643
Gene name Gene Name - the full gene name approved by the HGNC.
Multiciliate differentiation and DNA synthesis associated cell cycle protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCIDAS
Synonyms (NCBI Gene) Gene synonyms aliases
CILD42, IDAS, MCI, MCIN
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614086 40050 ENSG00000234602
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary dyskinesia Ciliary dyskinesia, primary, 42, primary ciliary dyskinesia rs797045151, rs777031813, rs1561117442, rs1580402818, rs1291689114, rs797045152 N/A
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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