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Aliases for CEP89 Gene

Aliases for CEP89 Gene

  • Centrosomal Protein 89 2 3
  • Centrosomal Protein 89kDa 2 3 5
  • Coiled-Coil Domain Containing 123 2 3
  • Centrosomal Protein 123 3 4
  • CCDC123 3 4
  • CEP123 3 4
  • Coiled-Coil Domain-Containing Protein 123, Mitochondrial 3
  • Coiled-Coil Domain-Containing Protein 123 4
  • Cep89 4

External Ids for CEP89 Gene

Previous HGNC Symbols for CEP89 Gene

  • CCDC123

Previous GeneCards Identifiers for CEP89 Gene

  • GC19M033370

Summaries for CEP89 Gene

GeneCards Summary for CEP89 Gene

CEP89 (Centrosomal Protein 89) is a Protein Coding gene. Diseases associated with CEP89 include Cystinuria. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

UniProtKB/Swiss-Prot for CEP89 Gene

  • Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP89 Gene

Genomics for CEP89 Gene

Regulatory Elements for CEP89 Gene

Enhancers for CEP89 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CEP89 on UCSC Golden Path with GeneCards custom track

Promoters for CEP89 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP89 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEP89 Gene

32,875,925 bp from pter
32,972,029 bp from pter
96,105 bases
Minus strand

Genomic View for CEP89 Gene

Genes around CEP89 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP89 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP89 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP89 Gene

Proteins for CEP89 Gene

  • Protein details for CEP89 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Centrosomal protein of 89 kDa
    Protein Accession:
    Secondary Accessions:
    • B9EGA6
    • Q8N5J8

    Protein attributes for CEP89 Gene

    783 amino acids
    Molecular mass:
    89590 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CEP89 Gene


neXtProt entry for CEP89 Gene

Proteomics data for CEP89 Gene at MOPED

Post-translational modifications for CEP89 Gene

  • Ubiquitination at Lys 682 and Lys 700
  • Modification sites at PhosphoSitePlus

Other Protein References for CEP89 Gene

No data available for DME Specific Peptides for CEP89 Gene

Domains & Families for CEP89 Gene

Protein Domains for CEP89 Gene


Suggested Antigen Peptide Sequences for CEP89 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP89: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CEP89 Gene

Function for CEP89 Gene

Molecular function for CEP89 Gene

UniProtKB/Swiss-Prot Function:
Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.
genes like me logo Genes that share phenotypes with CEP89: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP89 Gene

Localization for CEP89 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP89 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Mitochondrion intermembrane space. Note=Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.

Subcellular locations from

Jensen Localization Image for CEP89 Gene COMPARTMENTS Subcellular localization image for CEP89 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 5
plasma membrane 5
nucleus 3

Gene Ontology (GO) - Cellular Components for CEP89 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 21399614
GO:0005737 cytoplasm IDA --
GO:0005758 mitochondrial intermembrane space IEA --
GO:0005814 centriole IEA,IDA 23348840
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with CEP89: view

Pathways & Interactions for CEP89 Gene

genes like me logo Genes that share pathways with CEP89: view

Interacting Proteins for CEP89 Gene

Gene Ontology (GO) - Biological Process for CEP89 Gene


No data available for SIGNOR curated interactions for CEP89 Gene

Drugs & Compounds for CEP89 Gene

No Compound Related Data Available

Transcripts for CEP89 Gene

Unigene Clusters for CEP89 Gene

Centrosomal protein 89kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEP89 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: - -
SP3: - - -

Relevant External Links for CEP89 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CEP89 Gene

mRNA expression in normal human tissues for CEP89 Gene

Protein differential expression in normal tissues from HIPED for CEP89 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (48.9) and Amniocyte (15.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP89 Gene

SOURCE GeneReport for Unigene cluster for CEP89 Gene Hs.599703

genes like me logo Genes that share expression patterns with CEP89: view

Protein tissue co-expression partners for CEP89 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CEP89 Gene

Orthologs for CEP89 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP89 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CEP89 35
  • 81.79 (n)
  • 75.29 (a)
CEP89 36
  • 75 (a)
(Canis familiaris)
Mammalia CEP89 35
  • 83.33 (n)
  • 79.28 (a)
CEP89 36
  • 77 (a)
(Mus musculus)
Mammalia Cep89 35
  • 75.87 (n)
  • 70.45 (a)
Cep89 16
Cep89 36
  • 69 (a)
(Pan troglodytes)
Mammalia CEP89 35
  • 98.33 (n)
  • 97.96 (a)
CEP89 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cep89 35
  • 77.99 (n)
  • 71.66 (a)
(Monodelphis domestica)
Mammalia CEP89 36
  • 53 (a)
(Ornithorhynchus anatinus)
Mammalia CEP89 36
  • 61 (a)
(Gallus gallus)
Aves CEP89 35
  • 63.75 (n)
  • 55.98 (a)
CEP89 36
  • 52 (a)
(Anolis carolinensis)
Reptilia CEP89 36
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cep89 35
  • 58.21 (n)
  • 49.8 (a)
(Danio rerio)
Actinopterygii cep89 35
  • 54.35 (n)
  • 48.43 (a)
zgc63648 35
cep89 36
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
Species with no ortholog for CEP89:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 CEP89 Gene

Gene Tree for CEP89 (if available)
Gene Tree for CEP89 (if available)

Paralogs for CEP89 Gene

(1) SIMAP similar genes for CEP89 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CEP89: view

No data available for Paralogs for CEP89 Gene

Variants for CEP89 Gene

Sequence variations from dbSNP and Humsavar for CEP89 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs3764633 - 32,948,281(+) TGTCC(A/G)CTGTG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs4805825 - 32,923,514(+) CTTGG(A/G)CTCGC intron-variant, reference, missense
rs7256644 -- 32,902,012(+) TCTCT(C/G)TGTGT intron-variant
rs7256983 -- 32,893,802(+) gaagg(G/T)tatca intron-variant
rs7257626 -- 32,958,593(+) AGAAT(C/T)GCTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP89 Gene

Variant ID Type Subtype PubMed ID
nsv911576 CNV Loss 21882294
nsv516922 CNV Loss 19592680
nsv911577 CNV Loss 21882294
nsv911578 CNV Gain 21882294
esv24841 CNV Loss 19812545
esv26692 CNV Loss 19812545
nsv833807 CNV Loss 17160897
nsv510473 CNV Loss 20534489

Variation tolerance for CEP89 Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.18; 95.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP89 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP89 Gene

Disorders for CEP89 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEP89 Gene - From: GeneCards

Disorder Aliases PubMed IDs
  • csnu
- elite association - COSMIC cancer census association via MalaCards
Search CEP89 in MalaCards View complete list of genes associated with diseases


  • Note=Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness. {ECO:0000269 PubMed:23575228}.

Relevant External Links for CEP89

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CEP89: view

No data available for Genatlas for CEP89 Gene

Publications for CEP89 Gene

  1. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos B.E. … Tsou M.F. (Genes Dev. 2013) 3 4 67
  2. Human-specific nonsense mutations identified by genome sequence comparisons. (PMID: 16395595) Hahn Y. … Lee B. (Hum. Genet. 2006) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for CEP89 Gene

Sources for CEP89 Gene