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Aliases for CEP83 Gene

Aliases for CEP83 Gene

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

Entrez Gene Summary for CEP83 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]

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 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

Enhancers for CEP83 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F094432 1.1 ENCODE 18.4 +26.2 26184 1.9 CTCF SMC3 RAD21 CEP83 PLXNC1 ENSG00000258172 ENSG00000258365 RBMS2P1
GH12F094525 0.3 FANTOM5 11.3 -65.5 -65534 0.3 HLF CEP83 PLXNC1 GC12M094524 GC12P094543
GH12F094435 1 Ensembl ENCODE 6.4 +24.3 24253 1.1 ZNF664 PKNOX1 ATF3 CBX5 CEBPA HNF4G CEBPB ZBTB33 YY1 PLXNC1 CEP83 ENSG00000258172 RBMS2P1
GH12F094389 0.9 Ensembl ENCODE 6.4 +70.0 69999 0.9 ELF3 ARID4B SIN3A THAP11 HCFC1 SP5 CEBPB ELF1 KAT8 CEBPA ENSG00000258365 CEP83 RN7SL330P RBMS2P1
GH12F094311 0.2 ENCODE 6.3 +147.5 147503 2.0 PKNOX1 MTA2 ZBED1 JUNB ZBTB40 ATF2 ZFHX2 ZNF692 ZBTB48 GLIS1 PLXNC1 CEP83 GC12P094335 PIR51798
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CEP83 on UCSC Golden Path with GeneCards custom track

Promoters for CEP83 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000245554 88 2601 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

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

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 --
GO:0005515 protein binding IPI 23530209
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

miRNA for CEP83 Gene

miRTarBase miRNAs that target CEP83

Inhibitory RNA Products

Flow Cytometry Products

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.

Gene Ontology (GO) - Cellular Components for CEP83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 23530209
GO:0005814 centriole IEA,IDA 23348840
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CEP83: view

No data available for Subcellular locations from COMPARTMENTS 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:0030030 cell projection organization IEA --
GO:0048278 vesicle docking IEA,IMP 23530209
GO:0051660 establishment of centrosome localization IEA --
GO:0060271 cilium assembly IMP 23348840
GO:0071539 protein localization to centrosome IMP 23348840
genes like me logo Genes that share ontologies with CEP83: view

No data available for SIGNOR curated interactions for CEP83 Gene

Transcripts for CEP83 Gene

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for CEP83 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP83 Gene:

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

Primer 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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia CCDC41 34 35
  • 91.39 (n)
cow
(Bos Taurus)
Mammalia CCDC41 34 35
  • 89.71 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc41 34
  • 85.93 (n)
mouse
(Mus musculus)
Mammalia Ccdc41 34 35
  • 85.16 (n)
Cep83 16
oppossum
(Monodelphis domestica)
Mammalia CCDC41 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC41 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC41 34 35
  • 70.59 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC41 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc41 34
  • 67.41 (n)
Str.19384 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32598 34
zebrafish
(Danio rerio)
Actinopterygii ccdc41 34 35
  • 59.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3247 35
  • 35 (a)
OneToOne
Species where no ortholog for CEP83 was found in the sources mined by GeneCards:
  • 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
VAR_071266 Nephronophthisis 18 (NPHP18) [MIM:615862]
VAR_071268 Nephronophthisis 18 (NPHP18) [MIM:615862]
rs368619022 Pathogenic 94,411,780(+) TTCCT(A/G)CTGAG nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs369483167 Pathogenic 94,378,967(+) CACTC(A/G)TTTGC nc-transcript-variant, reference, stop-gained
rs587777486 Pathogenic 94,412,370(+) ACATC(A/G)TAACC intron-variant, nc-transcript-variant, reference, stop-gained, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CEP83 Gene

Variant ID Type Subtype PubMed ID
nsv516550 CNV loss 19592680
nsv7234 OTHER inversion 18451855
nsv832489 CNV loss 17160897
nsv832490 CNV gain 17160897
nsv983355 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
CEP83
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP83

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 18
  • nphp18
nephronophthisis 2, infantile
  • nephronophthisis 2
nephronophthisis
  • medullary cystic disease
intellectual disability
- 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 64
  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 4 64
  3. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. (PMID: 24882706) Failler M. … Saunier S. (Am. J. Hum. Genet. 2014) 3 4 64
  4. CCDC41 is required for ciliary vesicle docking to the mother centriole. (PMID: 23530209) Joo K. … Kim J. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CEP83 Gene

Sources for CEP83 Gene

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