CEP41 (centrosomal protein 41)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
95681
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 41
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP41
Synonyms (NCBI Gene) Gene synonyms aliases
JBTS15, TSGA14
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs140259402 C>T Pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs147444165 A>G Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs368178632 A>G Pathogenic, uncertain-significance Missense variant, genic downstream transcript variant, intron variant, coding sequence variant, initiator codon variant, non coding transcript variant
rs371812716 G>A Pathogenic Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs781815473 T>C,G Pathogenic Genic downstream transcript variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT016483 hsa-miR-193b-3p Microarray 20304954
MIRT020777 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT756250 hsa-miR-23a-3p Luciferase reporter assay 37372085
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22246503, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 14654843, 21399614
GO:0005813 Component Centrosome IEA
GO:0005814 Component Centriole IDA 22246503
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610523 12370 ENSG00000106477
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BYV8
Protein name Centrosomal protein of 41 kDa (Cep41) (Testis-specific gene A14 protein)
Protein function Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00581 Rhodanese 161 → 260 Rhodanese-like domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in testis and fetal tissues. {ECO:0000269|PubMed:12034494}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in testis and fetal tissues. {ECO:0000269|PubMed:12034494}.
Sequence 
MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKR
LKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSP
SPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRD
RDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMC
ERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKW
RFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPR
SLSSGHLQGKPWK
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2
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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 miRNA Gene ontology Other IDs Protein Pathways 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
Joubert Syndrome joubert syndrome 15 rs781848162, rs1584867379, rs1584916464, rs2117674119, rs781815473, rs1584901211 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cerebellar vermis agenesis familial aplasia of the vermis N/A N/A ClinVar
Diabetes Triglyceride levels in non-type 2 diabetes N/A N/A GWAS
Joubert Syndrome With Ocular Defect Joubert syndrome with ocular defect N/A N/A GenCC
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 29588463
Autism Spectrum Disorder Associate 21438139
Autistic Disorder Associate 21438139
Colorectal Neoplasms Associate 35247911
Connective Tissue Diseases Associate 22208759
Eye Diseases Hereditary Associate 29588463
Genetic Diseases Inborn Associate 22208759
Heredodegenerative Disorders Nervous System Associate 22208759
Myotonia with Skeletal Abnormalities and Mental Retardation Associate 22208759
Sarcoma Ewing Associate 24005033