CEP83 (centrosomal protein 83)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51134
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 83
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP83
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC41, NPHP18, NY-REN-58
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q22
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs200971081 T>A Likely-pathogenic Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, missense variant, downstream transcript variant
rs368619022 G>A,T Pathogenic Non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, stop gained
rs369483167 G>A Pathogenic 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs587777486 G>A Pathogenic 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, stop gained
rs587777487 C>G,T Pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT742070 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT742071 hsa-miR-5702 HITS-CLIP 23824327
MIRT742072 hsa-miR-937-5p HITS-CLIP 23824327
MIRT742073 hsa-miR-7641 HITS-CLIP 23824327
MIRT754755 hsa-miR-548c-3p PAR-CLIP 22291592
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(22)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23530209, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IBA
GO:0005794 Component Golgi apparatus IDA 23530209
GO:0005813 Component Centrosome IBA
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
615847 17966 ENSG00000173588
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y592
Protein name Centrosomal protein of 83 kDa (Cep83) (Coiled-coil domain-containing protein 41) (Renal carcinoma antigen NY-REN-58)
Protein function Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiatio
Family and domains
Sequence 
MVVSTFTDMDTFPNNFPPGGDSGLTGSQSEFQKMLIDERLRCEHHKANYQTLKAEHTRLQ
NEHVKLQNELKHLFNEKQTQQEKLQLLLEELRGELVEKTKDLEEMKLQILTPQKLELLRA
QIQQELETPMRERFRNLDEEVEKYRAVYNKLRYEHTFLKSEFEHQKEEYARILDEGKIKY
ESEIARLEEDKEELRNQLLNVDLTKDSKRVEQLAREKVYLCQKLKGLEAEVAELKAEKEN
SEAQVENAQRIQVRQLAEMQATVRSLEAEKQSANLRAERLEKELQSSSEQNTFLINKLHK
AEREINTLSSKVKELKHSNKLEITDIKLETARAKSELERERNKIQSELDGLQSDNEILKA
AVEHHKVLLVEKDRELIRKVQAAKEEGYQKLVVLQDEKLELENRLADLEKMKVEHDVWRQ
SEKDQYEEKLRASQMAEEITRKELQSVRLKLQQQIVTIENAEKEKNENSDLKQQISSLQI
QVTSLAQSENDLLNSNQMLKEMVERLKQECRNFRSQAEKAQLEAEKTLEEKQIQWLEEKH
KLHERITDREEKYNQAKEKLQRAAIAQKKRKSLHENKLKRLQEKVEVLEAKKEELETENQ
VLNRQNVPFEDYTRLQKRLKDIQRRHNEFRSLILVPNMPPTASINPVSFQSSAMVPSMEL
PFPPHMQEEQHQRELSLLRKRLEELETTQRKQLEELGSSGE
Sequence length 701
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
    Anchoring of the basal body to the plasma membrane
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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
Nephronophthisis nephronophthisis, nephronophthisis 18 rs780500128, rs587777486, rs2061113374, rs879255575, rs368619022, rs879255576, rs587777487, rs369483167, rs587777488, rs1064794347, rs1207804224 N/A
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 33938610
Fetal Alcohol Spectrum Disorders Associate 24882706
Hydrocephalus Associate 24882706
Immunologic Deficiency Syndromes Inhibit 33938610
Intellectual Disability Associate 24882706
Kidney Diseases Associate 33938610, 36222666
Learning Disabilities Associate 24882706
Nephronophthisis 2 Associate 24882706
Nephronophthisis familial juvenile Associate 24882706, 33938610
Retinal Degeneration Associate 36672815