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] See more...

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
  • Centrosomal Protein Of 83 KDa 3 4
  • CCDC41 3 4
  • Coiled-Coil Domain Containing 41 2
  • 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 Infantile Nephronophthisis. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. An important paralog of this gene is LRRC45.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for CEP83 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP83 Gene

Genomics for CEP83 Gene

GeneHancer (GH) Regulatory Elements for CEP83 Gene

Promoters and enhancers for CEP83 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J094458 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 755.4 +0.2 188 3.2 ZNF785 ZBTB40 MLX POLR2A USF2 ATF1 CREB1 HCFC1 MYC NFYC CEP83 CEP83-DT NR2C1 ENSG00000258172 ENSG00000258365 RF00998-034
GH12J094424 Promoter 0.7 EPDnew Ensembl 750.3 +35.0 34987 0.4 RBMS2P1 CEP83 PLXNC1 ENSG00000258172 lnc-TMCC3-9
GH12J093775 Enhancer 1.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 +681.3 681329 6.1 RAD21 SP1 RXRA NRF1 JUND YY1 NR2F2 CEBPB JUN ZNF507 SOCS2 CEP83 NONHSAG011935.2 lnc-SOCS2-6 CRADD
GH12J094432 Enhancer 0.3 ENCODE 18.4 +26.2 26183 1.9 CTCF RAD21 CEP83 PLXNC1 ENSG00000258172 ENSG00000258365 RBMS2P1 RF00998-034
GH12J094304 Enhancer 1 Ensembl ENCODE 5.6 +155.2 155187 3.6 ZNF24 SP1 JUND RELA POU5F1 NFIB CEBPG CREM IKZF1 CEBPA PLXNC1 ENSG00000258365 CEP83 lnc-TMCC3-6 piR-57799
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP83 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CEP83 Gene

Genomic Locations for CEP83 Gene
chr12:94,265,652-94,459,988
(GRCh38/hg38)
Size:
194,337 bases
Orientation:
Minus strand
chr12:94,700,225-94,853,764
(GRCh37/hg19)
Size:
153,540 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:
    701 amino acids
    Molecular mass:
    82940 Da
    Quaternary structure:
    • Interacts with CEP164 and IFT20.
    SequenceCaution:
    • Sequence=AAD42881.1; Type=Frameshift; Positions=113, 598, 609; Evidence={ECO:0000305}; Sequence=AAI25087.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

Gene Families for CEP83 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP83 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP83 Gene

GenScript: Design optimal peptide antigens:
  • Renal carcinoma antigen NY-REN-58 (CCD41_HUMAN)
  • CCDC41 protein (Q3B787_HUMAN)

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

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.

Phenotypes From GWAS Catalog for CEP83 Gene

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 Models for CEP83 Gene

MGI Knock Outs for CEP83:
  • Cep83 Cep83<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for CEP83 Gene

miRTarBase miRNAs that target CEP83

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP83 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
cytosol 4
nucleus 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

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 IDA,IEA 23348840
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CEP83: view

Pathways & Interactions for CEP83 Gene

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

Pathways by source 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 IEA,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

Drugs & Compounds for CEP83 Gene

No Compound Related Data Available

Transcripts for CEP83 Gene

CRISPR Products

Clone 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 CGAP 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 and MOPED for CEP83 Gene



Protein tissue co-expression partners for CEP83 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP83 Gene:

CEP83

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP83 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
Pelvis:
  • urinary bladder
genes like me logo Genes that share expression patterns with CEP83: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 33 32
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC41 33 32
  • 91.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC41 33 32
  • 89.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc41 32
  • 85.93 (n)
mouse
(Mus musculus)
Mammalia Ccdc41 33 32
  • 85.16 (n)
OneToOne
Cep83 17
oppossum
(Monodelphis domestica)
Mammalia CCDC41 33
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC41 33
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC41 33 32
  • 70.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC41 33
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc41 32
  • 67.41 (n)
Str.19384 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.32598 32
zebrafish
(Danio rerio)
Actinopterygii ccdc41 33 32
  • 59.41 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3247 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CEP83: view image

Paralogs for CEP83 Gene

Paralogs for CEP83 Gene

Pseudogenes.org Pseudogenes for CEP83 Gene

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

Variants for CEP83 Gene

Sequence variations from dbSNP and Humsavar for CEP83 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs115988985 benign, Nephronophthisis 18 94,400,962(-) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1207804224 pathogenic, Nephronophthisis 18 94,310,031(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs139046818 benign, Nephronophthisis 18 94,335,597(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs146747324 likely-benign, Anophthalmia - microphthalmia 94,279,523(-) T/C genic_downstream_transcript_variant, intron_variant
rs148769208 benign, Nephronophthisis 18 94,403,179(-) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant

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)

Additional Variant Information for CEP83 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 18
  • nphp18
infantile nephronophthisis
  • nephronophthisis 2
nephronophthisis 15
  • nphp15
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.

Additional Disease Information for 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 BE … Tsou MF (Genes & development 2013) 2 3 4 56
  2. Antigens recognized by autologous antibody in patients with renal-cell carcinoma. (PMID: 10508479) Scanlan MJ … Old LJ (International journal of cancer 1999) 2 3 4 56
  3. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. (PMID: 24882706) Failler M … Saunier S (American journal of human genetics 2014) 3 4 56
  4. CCDC41 is required for ciliary vesicle docking to the mother centriole. (PMID: 23530209) Joo K … Kim J (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for CEP83 Gene

Sources for CEP83 Gene