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Aliases for CEP104 Gene

Aliases for CEP104 Gene

  • Centrosomal Protein 104 2 3
  • Centrosomal Protein 104kDa 2 3 5
  • KIAA0562 2 3 4
  • Thienylcyclohexylpiperidine Binding Protein 2
  • Glutamate 2
  • Glycine 2
  • CFAP256 3
  • JBTS25 3
  • Cep104 4
  • GlyBP 3
  • ROC22 3

External Ids for CEP104 Gene

Previous HGNC Symbols for CEP104 Gene

  • KIAA0562

Previous GeneCards Identifiers for CEP104 Gene

  • GC01M003728

Summaries for CEP104 Gene

Entrez Gene Summary for CEP104 Gene

  • This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

GeneCards Summary for CEP104 Gene

CEP104 (Centrosomal Protein 104) is a Protein Coding gene. Diseases associated with CEP104 include Joubert Syndrome 1 and Apraxia. GO annotations related to this gene include binding and glutamate binding.

UniProtKB/Swiss-Prot for CEP104 Gene

  • Required for ciliogenesis and for structural integrity at the ciliary tip.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP104 Gene

Genomics for CEP104 Gene

Regulatory Elements for CEP104 Gene

Enhancers for CEP104 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 CEP104 on UCSC Golden Path with GeneCards custom track

Promoters for CEP104 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP104 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEP104 Gene

3,812,081 bp from pter
3,857,387 bp from pter
45,307 bases
Minus strand

Genomic View for CEP104 Gene

Genes around CEP104 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP104 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP104 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP104 Gene

Proteins for CEP104 Gene

  • Protein details for CEP104 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Centrosomal protein of 104 kDa
    Protein Accession:
    Secondary Accessions:
    • A0A024R4G3
    • Q5JSQ3
    • Q5SR24
    • Q5SR25
    • Q6PKF5
    • Q86W32
    • Q86X14

    Protein attributes for CEP104 Gene

    925 amino acids
    Molecular mass:
    104448 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH01640.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA25488.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP104 Gene


neXtProt entry for CEP104 Gene

Proteomics data for CEP104 Gene at MOPED

Post-translational modifications for CEP104 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP104 Gene

No data available for DME Specific Peptides for CEP104 Gene

Domains & Families for CEP104 Gene

Protein Domains for CEP104 Gene

Suggested Antigen Peptide Sequences for CEP104 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 HEAT repeats.
  • Contains 2 HEAT repeats.
genes like me logo Genes that share domains with CEP104: view

No data available for Gene Families for CEP104 Gene

Function for CEP104 Gene

Molecular function for CEP104 Gene

UniProtKB/Swiss-Prot Function:
Required for ciliogenesis and for structural integrity at the ciliary tip.

Animal Model Products

miRNA for CEP104 Gene

miRTarBase miRNAs that target CEP104

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP104 Gene

Localization for CEP104 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP104 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=In interphase non-ciliated cells, localizes to the distal ends of both the mother and daughter centrioles. In ciliated cells, present at the distal end of the daughter centriole, but not on the mother centriole, and at the tip of primary cilium. Localization at the ciliary tip is also observed in motile cilia. Throughout S phase, associated with both mother and daughter centrioles in each centrosome. During metaphase and telophase, present at both spindle poles. {ECO:0000269 PubMed:23970417}.

Subcellular locations from

Jensen Localization Image for CEP104 Gene COMPARTMENTS Subcellular localization image for CEP104 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for CEP104 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005814 centriole IDA 21399614
genes like me logo Genes that share ontologies with CEP104: view

Pathways & Interactions for CEP104 Gene

SuperPathways for CEP104 Gene

No Data Available

Interacting Proteins for CEP104 Gene

Selected Interacting proteins: O60308-CE104_HUMAN for CEP104 Gene via UniProtKB I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for CEP104 Gene


No data available for Pathways by source and SIGNOR curated interactions for CEP104 Gene

Drugs & Compounds for CEP104 Gene

No Compound Related Data Available

Transcripts for CEP104 Gene

Unigene Clusters for CEP104 Gene

Centrosomal protein 104kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEP104 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^
SP1: - - - -
SP2: - -
SP4: - -
SP6: - -

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24
SP7: - -

Relevant External Links for CEP104 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CEP104 Gene

mRNA expression in normal human tissues for CEP104 Gene

Protein differential expression in normal tissues from HIPED for CEP104 Gene

This gene is overexpressed in Liver (24.4), Salivary gland (14.2), Urine (13.5), and Placenta (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEP104 Gene

SOURCE GeneReport for Unigene cluster for CEP104 Gene Hs.509017

genes like me logo Genes that share expression patterns with CEP104: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CEP104 Gene

Orthologs for CEP104 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP104 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CEP104 35
  • 79.93 (n)
  • 83.14 (a)
CEP104 36
  • 83 (a)
(Canis familiaris)
Mammalia CEP104 35
  • 83.42 (n)
  • 84.18 (a)
CEP104 36
  • 84 (a)
(Mus musculus)
Mammalia Cep104 35
  • 80 (n)
  • 81.2 (a)
Cep104 16
Cep104 36
  • 81 (a)
(Pan troglodytes)
Mammalia CEP104 35
  • 99.03 (n)
  • 98.92 (a)
CEP104 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cep104 35
  • 79.67 (n)
  • 80.87 (a)
(Monodelphis domestica)
Mammalia CEP104 36
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia CEP104 36
  • 88 (a)
(Gallus gallus)
Aves CEP104 35
  • 71.53 (n)
  • 72.25 (a)
CEP104 36
  • 69 (a)
(Anolis carolinensis)
Reptilia CEP104 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cep104 35
  • 66.38 (n)
  • 68.89 (a)
(Danio rerio)
Actinopterygii cep104 35
  • 59.19 (n)
  • 55.78 (a)
cep104 36
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009750 35
  • 44.02 (n)
  • 34.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10137 35
  • 45.15 (n)
  • 34.63 (a)
CG10137 36
  • 30 (a)
(Caenorhabditis elegans)
Secernentea C40H1.3 36
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2978 36
  • 43 (a)
Species with no ortholog for CEP104:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for CEP104 Gene

Gene Tree for CEP104 (if available)
Gene Tree for CEP104 (if available)

Paralogs for CEP104 Gene

No data available for Paralogs for CEP104 Gene

Variants for CEP104 Gene

Sequence variations from dbSNP and Humsavar for CEP104 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2275831 - 3,829,360(-) AAAAG(C/T)GGCTA reference, missense
rs2275824 - 3,836,572(-) GCATG(A/T)TAGGG intron-variant, reference, missense
rs1836 -- 3,829,552(+) AACCC(A/G)CTGTG intron-variant
rs1104855 -- 3,817,807(-) CCTGC(C/G)ACGTG intron-variant
rs1104856 -- 3,817,883(-) GGGCA(C/T)GGCGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP104 Gene

Variant ID Type Subtype PubMed ID
dgv96n71 CNV Loss 21882294
nsv871942 CNV Loss 21882294
nsv830425 CNV Gain 17160897
nsv871323 CNV Loss 21882294
dgv114n71 CNV Loss 21882294
nsv509590 CNV Insertion 20534489
esv2730028 CNV Deletion 23290073
esv1948239 CNV Deletion 18987734
esv1074506 CNV Insertion 17803354
esv2730139 CNV Deletion 23290073
esv2730250 CNV Deletion 23290073
nsv159844 CNV Loss 16902084

Variation tolerance for CEP104 Gene

Residual Variation Intolerance Score: 92.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.37; 88.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP104 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP104 Gene

Disorders for CEP104 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CEP104 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
  • dyspraxia
- elite association - COSMIC cancer census association via MalaCards


  • Joubert syndrome 25 (JBTS25) [MIM:616781]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive. {ECO:0000269 PubMed:26477546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP104

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CEP104: view

No data available for Genatlas for CEP104 Gene

Publications for CEP104 Gene

  1. Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly. (PMID: 23970417) Satish Tammana T.V. … Rosenbaum J. (J. Cell. Sci. 2013) 2 3 4 67
  2. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L. … Andersen J.S. (EMBO J. 2011) 2 3
  3. Cloning of the cDNA for a brain glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein. (PMID: 7488117) Kumar K.N. … Michaelis E.K. (Biochem. Biophys. Res. Commun. 1995) 2 3
  4. Mammalian splicing factor SF1 interacts with SURP domains of U2 snRNP-associated proteins. (PMID: 26420826) Crisci A. … KrAomer A. (Nucleic Acids Res. 2015) 3
  5. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. (PMID: 26477546) Srour M. … Michaud J.L. (Am. J. Hum. Genet. 2015) 3

Products for CEP104 Gene

Sources for CEP104 Gene