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Aliases for CEP83 Gene

Aliases for CEP83 Gene

  • Centrosomal Protein 83 2 3
  • Centrosomal Protein 83kDa 2 3 5
  • Coiled-Coil Domain-Containing Protein 41 3 4
  • Renal Carcinoma Antigen NY-REN-58 3 4
  • Coiled-Coil Domain Containing 41 2 3
  • CCDC41 3 4
  • NY-REN-58 Antigen 3
  • NY-REN-58 3
  • NPHP18 3
  • Cep83 4

External Ids for CEP83 Gene

Previous HGNC Symbols for CEP83 Gene

  • CCDC41

Previous GeneCards Identifiers for CEP83 Gene

  • GC12M094700
  • GC12M094278

Summaries for CEP83 Gene

GeneCards Summary for CEP83 Gene

CEP83 (Centrosomal Protein 83) is a Protein Coding gene. Diseases associated with CEP83 include nephronophthisis 18 and nephronophthisis 2, infantile. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

UniProtKB/Swiss-Prot for CEP83 Gene

  • 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 initiation of primary cilium assembly.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP83 Gene

Genomics for CEP83 Gene

Regulatory Elements for CEP83 Gene

Promoters for CEP83 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP83 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEP83 Gene

Chromosome:
12
Start:
94,265,652 bp from pter
End:
94,459,988 bp from pter
Size:
194,337 bases
Orientation:
Minus strand

Genomic View for CEP83 Gene

Genes around CEP83 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP83 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP83 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP83 Gene

Proteins for CEP83 Gene

  • Protein details for CEP83 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y592-CEP83_HUMAN
    Recommended name:
    Centrosomal protein of 83 kDa
    Protein Accession:
    Q9Y592
    Secondary Accessions:
    • A4FVB1
    • Q08AP1

    Protein attributes for CEP83 Gene

    Size:
    693 amino acids
    Molecular mass:
    82059 Da
    Quaternary structure:
    • Interacts with CEP164 and IFT20.
    SequenceCaution:
    • Sequence=AAD42881.1; Type=Frameshift; Positions=105, 590, 601; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP83 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP83 Gene

Proteomics data for CEP83 Gene at MOPED

Post-translational modifications for CEP83 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CEP83 Gene

Domains & Families for CEP83 Gene

Protein Domains for CEP83 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP83 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y592

UniProtKB/Swiss-Prot:

CEP83_HUMAN :
  • Belongs to the CEP83 family.
Family:
  • Belongs to the CEP83 family.
genes like me logo Genes that share domains with CEP83: view

No data available for Gene Families for CEP83 Gene

Function for CEP83 Gene

Molecular function for CEP83 Gene

UniProtKB/Swiss-Prot 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 initiation of primary cilium assembly.

Gene Ontology (GO) - Molecular Function for CEP83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CEP83: view
genes like me logo Genes that share phenotypes with CEP83: view

Human Phenotype Ontology for CEP83 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CEP83 Gene

miRTarBase miRNAs that target CEP83

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP83 Gene

Localization for CEP83 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP83 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to centrioles at all stages of the cell cycle, including mitosis.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CEP83 Gene

Pathways & Interactions for CEP83 Gene

genes like me logo Genes that share pathways with CEP83: view

Interacting Proteins for CEP83 Gene

Gene Ontology (GO) - Biological Process for CEP83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048278 vesicle docking IEA,IMP 23530209
genes like me logo Genes that share ontologies with CEP83: view

No data available for SIGNOR curated interactions for CEP83 Gene

Drugs & Compounds for CEP83 Gene

No Compound Related Data Available

Transcripts for CEP83 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CEP83 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - -
SP4:
SP5:
SP6: - -
SP7:
SP8: - - - - - - - - - - - - -
SP9: -
SP10:

ExUns: 16a · 16b ^ 17a · 17b ^ 18 ^ 19
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CEP83 Gene

GeneLoc Exon Structure for
CEP83
ECgene alternative splicing isoforms for
CEP83

Expression for CEP83 Gene

mRNA expression in normal human tissues for CEP83 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP83 Gene

This gene is overexpressed in Lung (37.4), Platelet (22.1), and Pancreas (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CEP83 Gene



genes like me logo Genes that share expression patterns with CEP83: view

Protein tissue co-expression partners for CEP83 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CEP83 Gene

Orthologs for CEP83 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP83 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC41 35
  • 99.52 (n)
  • 99.43 (a)
CCDC41 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC41 36
  • 88 (a)
OneToOne
CCDC41 35
  • 89.71 (n)
  • 87.29 (a)
dog
(Canis familiaris)
Mammalia CCDC41 35
  • 91.39 (n)
  • 89.44 (a)
CCDC41 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc41 36
  • 84 (a)
OneToOne
Cep83 16
Ccdc41 35
  • 85.16 (n)
  • 84.1 (a)
oppossum
(Monodelphis domestica)
Mammalia CCDC41 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC41 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc41 35
  • 85.93 (n)
  • 85.84 (a)
chicken
(Gallus gallus)
Aves CCDC41 36
  • 64 (a)
OneToOne
CCDC41 35
  • 70.59 (n)
  • 66.81 (a)
lizard
(Anolis carolinensis)
Reptilia CCDC41 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32598 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc41 35
  • 67.41 (n)
  • 63.8 (a)
Str.19384 35
zebrafish
(Danio rerio)
Actinopterygii ccdc41 36
  • 55 (a)
OneToOne
ccdc41 35
  • 59.41 (n)
  • 57.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3247 36
  • 35 (a)
OneToOne
Species with no ortholog for CEP83:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP83 Gene

ENSEMBL:
Gene Tree for CEP83 (if available)
TreeFam:
Gene Tree for CEP83 (if available)

Paralogs for CEP83 Gene

Pseudogenes.org Pseudogenes for CEP83 Gene

genes like me logo Genes that share paralogs with CEP83: view

No data available for Paralogs for CEP83 Gene

Variants for CEP83 Gene

Sequence variations from dbSNP and Humsavar for CEP83 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2271979 - 94,378,966(+) CCACT(C/T)GTTTG nc-transcript-variant, reference, missense
VAR_071266 Nephronophthisis 18 (NPHP18)
VAR_071268 Nephronophthisis 18 (NPHP18)
rs1961780 -- 94,384,805(+) AACCA(C/G)GTTTA intron-variant
rs2365453 -- 94,320,024(+) AATCC(A/G)GGTGC intron-variant

Variation tolerance for CEP83 Gene

Residual Variation Intolerance Score: 30.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.76; 83.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP83 Gene

HapMap Linkage Disequilibrium report
CEP83
Human Gene Mutation Database (HGMD)
CEP83

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CEP83 Gene

Disorders for CEP83 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CEP83 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 18
  • nphp18
nephronophthisis 2, infantile
  • nephronophthisis 2
nephronophthisis 19
  • nphp19
nephronophthisis
  • medullary cystic disease
- elite association - COSMIC cancer census association via MalaCards
Search CEP83 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEP83_HUMAN
  • Nephronophthisis 18 (NPHP18) [MIM:615862]: An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients. {ECO:0000269 PubMed:24882706}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP83

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP83
genes like me logo Genes that share disorders with CEP83: view

No data available for Genatlas for CEP83 Gene

Publications for CEP83 Gene

  1. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos B.E. … Tsou M.F. (Genes Dev. 2013) 2 3 4 67
  2. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 2 3
  3. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. (PMID: 24882706) Failler M. … Saunier S. (Am. J. Hum. Genet. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 3

Products for CEP83 Gene

Sources for CEP83 Gene

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