Property Summary

NCBI Gene PubMed Count 11
PubMed Score 2.89
PubTator Score 2.85

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -2.120 0.000
adrenocortical carcinoma 1.123 0.003
posterior fossa group B ependymoma 1.700 0.000
ovarian cancer -1.400 0.000
cystic fibrosis and chronic rhinosinusit... -1.061 0.031

Synonym

Accession Q9Y592 A4FVB1 Q08AP1 Cep83
Symbols CCDC41
NPHP18
NY-REN-58

Gene

Gene RIF (2)

PMID Text
24882706 We have identified mutations in CEP83, another distal appendages component encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals.
23530209 CCDC41 is required for the docking of ciliary vesicles

AA Sequence

MDTFPNNFPPGGDSGLTGSQSEFQKMLIDERLRCEHHKANYQTLKAEHTRLQNEHVKLQNELKHLFNEKQ      1 - 70
TQQEKLQLLLEELRGELVEKTKDLEEMKLQILTPQKLELLRAQIQQELETPMRERFRNLDEEVEKYRAVY     71 - 140
NKLRYEHTFLKSEFEHQKEEYARILDEGKIKYESEIARLEEDKEELRNQLLNVDLTKDSKRVEQLAREKV    141 - 210
YLCQKLKGLEAEVAELKAEKENSEAQVENAQRIQVRQLAEMQATVRSLEAEKQSANLRAERLEKELQSSS    211 - 280
EQNTFLINKLHKAEREINTLSSKVKELKHSNKLEITDIKLETARAKSELERERNKIQSELDGLQSDNEIL    281 - 350
KAAVEHHKVLLVEKDRELIRKVQAAKEEGYQKLVVLQDEKLELENRLADLEKMKVEHDVWRQSEKDQYEE    351 - 420
KLRASQMAEEITRKELQSVRLKLQQQIVTIENAEKEKNENSDLKQQISSLQIQVTSLAQSENDLLNSNQM    421 - 490
LKEMVERLKQECRNFRSQAEKAQLEAEKTLEEKQIQWLEEKHKLHERITDREEKYNQAKEKLQRAAIAQK    491 - 560
KRKSLHENKLKRLQEKVEVLEAKKEELETENQVLNRQNVPFEDYTRLQKRLKDIQRRHNEFRSLILVPNM    561 - 630
PPTASINPVSFQSSAMVPSMELPFPPHMQEEQHQRELSLLRKRLEELETTQRKQLEELGSSGE           631 - 693
//

Text Mined References (11)

PMID Year Title
24882706 2014 Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
23530209 2013 CCDC41 is required for ciliary vesicle docking to the mother centriole.
23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
23348840 2013 Centriole distal appendages promote membrane docking, leading to cilia initiation.
16541075 2006 The finished DNA sequence of human chromosome 12.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10508479 1999 Antigens recognized by autologous antibody in patients with renal-cell carcinoma.
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