CEP41 (centrosomal protein 41)

2014-11-01  

Identity

HGNC
LOCATION
7q32.2
LOCUSID
ALIAS
JBTS15,TSGA14

Other Information

Locus ID:

NCBI: 95681
MIM: 610523
HGNC: 12370
Ensembl: ENSG00000106477

Variants:

dbSNP: 95681
ClinVar: 95681
TCGA: ENSG00000106477
COSMIC: CEP41

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106477ENST00000223208Q9BYV8
ENSG00000106477ENST00000343969Q9BYV8
ENSG00000106477ENST00000469826C9IZ34
ENSG00000106477ENST00000471201F8WAV3
ENSG00000106477ENST00000472739C9J9X8
ENSG00000106477ENST00000475282C9J6R3
ENSG00000106477ENST00000477003C9JCX6
ENSG00000106477ENST00000484549F8WF85
ENSG00000106477ENST00000489512Q9BYV8
ENSG00000106477ENST00000492389C9JXA0
ENSG00000106477ENST00000541543Q9BYV8
ENSG00000106477ENST00000616628Q9BYV8

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222465032012CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.71
224562932012Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices.8
214381392011Mutations in the TSGA14 gene in families with autism spectrum disorders.6
306646162019Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.2

Citation

Dessen P

CEP41 (centrosomal protein 41)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61724/cep41