Aliases for CEP89 Gene

Aliases for CEP89 Gene

  • Centrosomal Protein 89 2 3 5
  • Coiled-Coil Domain Containing 123 2 3
  • Centrosomal Protein Of 89 KDa 3 4
  • Centrosomal Protein 89kDa 2 3
  • Centrosomal Protein 123 3 4
  • CCDC123 3 4
  • Coiled-Coil Domain-Containing Protein 123, Mitochondrial 3
  • Coiled-Coil Domain-Containing Protein 123 4
  • FLJ14640 2
  • CEP123 3
  • Cep123 4
  • CEP89 5
  • 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 and Autosomal Dominant Non-Syndromic Intellectual Disability 32. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

UniProtKB/Swiss-Prot Summary for CEP89 Gene

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

Additional gene information for CEP89 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP89 Gene

Genomics for CEP89 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP89 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP89 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP89

Genomic Locations for CEP89 Gene

Genomic Locations for CEP89 Gene
chr19:32,875,925-32,972,024
(GRCh38/hg38)
Size:
96,100 bases
Orientation:
Minus strand
chr19:33,369,902-33,462,897
(GRCh37/hg19)
Size:
92,996 bases
Orientation:
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:
    Q96ST8-CEP89_HUMAN
    Recommended name:
    Centrosomal protein of 89 kDa
    Protein Accession:
    Q96ST8
    Secondary Accessions:
    • B9EGA6
    • Q8N5J8

    Protein attributes for CEP89 Gene

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

    Alternative splice isoforms for CEP89 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP89 Gene

Post-translational modifications for CEP89 Gene

  • Ubiquitination at Lys682 and Lys700
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP89 Gene

Domains & Families for CEP89 Gene

Gene Families for CEP89 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CEP89 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP89 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 123 (CEP89_HUMAN)
  • CCDC123 protein (Q8WUL5_HUMAN)
genes like me logo Genes that share domains with CEP89: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for CEP89 Gene

Gene Ontology (GO) - Molecular Function for CEP89 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23789104
genes like me logo Genes that share ontologies with CEP89: view
genes like me logo Genes that share phenotypes with CEP89: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP89

No data available for Enzyme Numbers (IUBMB) , 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

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 CEP89 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
mitochondrion 5
cytosol 5
nucleus 3
extracellular 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP89 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA,IDA 21399614
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005758 mitochondrial intermembrane space IEA --
GO:0005813 centrosome IDA 21399614
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

Pathways by source for CEP89 Gene

Gene Ontology (GO) - Biological Process for CEP89 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IEA --
GO:0007268 chemical synaptic transmission IEA --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IEA,IMP 23348840
GO:0097711 ciliary basal body-plasma membrane docking TAS --
genes like me logo Genes that share ontologies with CEP89: view

No data available for SIGNOR curated interactions for CEP89 Gene

Drugs & Compounds for CEP89 Gene

No Compound Related Data Available

Transcripts for CEP89 Gene

mRNA/cDNA for CEP89 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP89

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: - - -
SP4:

Relevant External Links for CEP89 Gene

GeneLoc Exon Structure for
CEP89

Expression for CEP89 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP89 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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, MaxQB, and MOPED for CEP89 Gene



Protein tissue co-expression partners for CEP89 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP89

SOURCE GeneReport for Unigene cluster for CEP89 Gene:

Hs.599703

Evidence on tissue expression from TISSUES for CEP89 Gene

  • Nervous system(4.3)
  • Blood(4.2)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with CEP89: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia CEP89 30 31
  • 98.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP89 30 31
  • 83.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CEP89 30 31
  • 81.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cep89 30
  • 77.99 (n)
Mouse
(Mus musculus)
Mammalia Cep89 30 17 31
  • 75.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CEP89 31
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CEP89 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CEP89 30 31
  • 63.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEP89 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cep89 30
  • 58.21 (n)
Zebrafish
(Danio rerio)
Actinopterygii cep89 30 31
  • 54.35 (n)
OneToOne
zgc63648 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
Species where no ortholog for CEP89 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for CEP89 (if available)
TreeFam:
Gene Tree for CEP89 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP89: view image

Paralogs for CEP89 Gene

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

  • CEP89_HUMAN
  • K7EJF0_HUMAN
  • K7EPU8_HUMAN
  • K7EQI2_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP89 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
710143 Likely Benign: not provided 32,960,014(-) C/T MISSENSE_VARIANT
736416 Likely Benign: not provided 32,948,313(-) T/C MISSENSE_VARIANT
771216 Benign: not provided 32,923,486(-) T/C SYNONYMOUS_VARIANT
786354 Benign: not provided 32,915,422(-) G/A MISSENSE_VARIANT
791354 Benign: not provided 32,915,421(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CEP89 Gene

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

Variant ID Type Subtype PubMed ID
esv24841 CNV loss 19812545
esv26692 CNV loss 19812545
esv3644180 OTHER inversion 21293372
esv3893199 CNV gain 25118596
nsv1060014 CNV gain 25217958
nsv1062926 CNV loss 25217958
nsv510473 OTHER sequence alteration 20534489
nsv516922 CNV loss 19592680
nsv833807 CNV loss 17160897
nsv960824 CNV duplication 23825009

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)

Additional Variant Information for CEP89 Gene

Human Gene Mutation Database (HGMD)
CEP89
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP89

SNP Genotyping and Copy Number Assay Products

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

Disorders for CEP89 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CEP89 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cystinuria
  • csnu
autosomal dominant non-syndromic intellectual disability 32
  • autosomal dominant mental retardation 32
nephronophthisis 18
  • nphp18
orofaciodigital syndrome i
  • ofd1
spinocerebellar ataxia 11
  • sca11
- elite association - COSMIC cancer census association via MalaCards
Search CEP89 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEP89_HUMAN
  • 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}.
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 BE … Tsou MF (Genes & development 2013) 3 4
  2. CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. (PMID: 23575228) van Bon BW … Schenck A (Human molecular genetics 2013) 3 4
  3. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L … Andersen JS (The EMBO journal 2011) 3 4
  4. Human-specific nonsense mutations identified by genome sequence comparisons. (PMID: 16395595) Hahn Y … Lee B (Human genetics 2006) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for CEP89 Gene

  • Signalway Proteins for CEP89

Sources for CEP89 Gene