Gene table of MCPH1 : microcephalin 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with MCPH1OMIM linkNumber of associated genesgenes
PS251200MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 16CDK5RAP2, CENPE, MCPH1, MFSD2A, ANKLE2, ZNF335, CDK6, ASPM, CASC5, SASS6, STIL, CEP152, CENPJ, PHC1, CEP135, WDR62

Download the gene annotation in CSV format

Annotation of the gene MCPH1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Cell CycleR-HSA-16401703.89
M PhaseR-HSA-688864.87
Cell Cycle, MitoticR-HSA-692784.16
Condensation of Prophase ChromosomesR-HSA-22997187.66
Mitotic ProphaseR-HSA-688756.27
Associated GO terms for Molecular function
GO termGO IDGO IC
identical protein bindingGO:00428022.63
bindingGO:00054880.18
protein bindingGO:00055150.46