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Aliases for CEP78 Gene

Aliases for CEP78 Gene

  • Centrosomal Protein 78 2 3 5
  • Centrosomal Protein 78kDa 2 3
  • C9orf81 3 4
  • Chromosome 9 Open Reading Frame 81 2
  • Centrosomal Protein Of 78 KDa 3
  • CRDHL 3
  • Cep78 4
  • IP63 3

External Ids for CEP78 Gene

Previous HGNC Symbols for CEP78 Gene

  • C9orf81

Previous GeneCards Identifiers for CEP78 Gene

  • GC09P078081
  • GC09P080040
  • GC09P080850
  • GC09P050682

Summaries for CEP78 Gene

Entrez Gene Summary for CEP78 Gene

  • This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]

GeneCards Summary for CEP78 Gene

CEP78 (Centrosomal Protein 78) is a Protein Coding gene. Diseases associated with CEP78 include Cone-Rod Dystrophy And Hearing Loss and Sensorineural Hearing Loss. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.

UniProtKB/Swiss-Prot for CEP78 Gene

  • May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). May play a role in cilium biogenesis (PubMed:27588451).

Gene Wiki entry for CEP78 Gene

Additional gene information for CEP78 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP78 Gene

Genomics for CEP78 Gene

Regulatory Elements for CEP78 Gene

Enhancers for CEP78 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
GH09H078294 1.4 FANTOM5 ENCODE 15.3 +60.7 60717 4 ATF1 ARID4B SIN3A DMAP1 ZNF2 YY1 ETS1 ZNF121 GLIS2 ATF7 CEP78 PSAT1
GH09H078277 0.8 ENCODE 23.5 +42.6 42572 1 SOX13 FOXA2 MAX CEBPG RAD21 YY1 HNF4G TCF7L2 GATAD2A KLF6 CEP78 PSAT1
GH09H078210 1 Ensembl ENCODE 16.9 -24.7 -24710 1 HDGF PKNOX1 EED ATF7 ETV6 RUNX3 IKZF2 CREM NR2F1 ZBED1 CEP78 PSAT1 ENSG00000234819 RPL21P84
GH09H078200 0.9 Ensembl ENCODE 17.4 -34.7 -34719 1 FOXA2 SP5 FOXA3 ELF1 ZFHX2 FOXK2 ZSCAN16 EGR1 IKZF1 PRDM10 CEP78 PSAT1 ENSG00000234819 RPL21P84
GH09H077943 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.5 -290.6 -290561 4 CTCF PKNOX1 FOXA2 MAX CC2D1A GATA3 POLR2A SCRT2 STAT1 L3MBTL2 GNAQ CEP78 GC09P077971 PIR41797
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CEP78 on UCSC Golden Path with GeneCards custom track

Promoters for CEP78 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000236388 38 2201 HDGF FOXA2 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for CEP78 Gene

Chromosome:
9
Start:
78,236,062 bp from pter
End:
78,279,690 bp from pter
Size:
43,629 bases
Orientation:
Plus strand

Genomic View for CEP78 Gene

Genes around CEP78 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP78 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP78 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP78 Gene

Proteins for CEP78 Gene

  • Protein details for CEP78 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JTW2-CEP78_HUMAN
    Recommended name:
    Centrosomal protein of 78 kDa
    Protein Accession:
    Q5JTW2
    Secondary Accessions:
    • A1A4S8
    • E9PHX5
    • Q5BJE3
    • Q5JTW0
    • Q5JTW1
    • Q9H9N3

    Protein attributes for CEP78 Gene

    Size:
    689 amino acids
    Molecular mass:
    76396 Da
    Quaternary structure:
    • Interacts with PLK4 (PubMed:27246242). Interacts with FAM161A (PubMed:27588451).
    SequenceCaution:
    • Sequence=AAH91515.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH91515.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP78 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP78 Gene

Post-translational modifications for CEP78 Gene

  • Ubiquitination at posLast=9090, Lys317, and posLast=374374
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP78 Gene

Domains & Families for CEP78 Gene

Gene Families for CEP78 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP78 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP78 Gene

Graphical View of Domain Structure for InterPro Entry

Q5JTW2

UniProtKB/Swiss-Prot:

CEP78_HUMAN :
  • Belongs to the CEP78 family.
Family:
  • Belongs to the CEP78 family.
genes like me logo Genes that share domains with CEP78: view

Function for CEP78 Gene

Molecular function for CEP78 Gene

UniProtKB/Swiss-Prot Function:
May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). May play a role in cilium biogenesis (PubMed:27588451).
genes like me logo Genes that share phenotypes with CEP78: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP78 Gene

Localization for CEP78 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP78 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Mainly localizes at the centriolar wall, but also found in the pericentriolar material (PubMed:27246242). Expressed in photoreceptor inner segment (PubMed:27588452). {ECO:0000269 PubMed:27246242, ECO:0000269 PubMed:27588452}.

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 CEP78 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for CEP78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CEP78: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEP78 Gene

Pathways & Interactions for CEP78 Gene

genes like me logo Genes that share pathways with CEP78: view

Gene Ontology (GO) - Biological Process for CEP78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0030030 cell projection organization IEA --
GO:0044782 cilium organization IMP 27588451
GO:0097711 ciliary basal body docking TAS --
genes like me logo Genes that share ontologies with CEP78: view

No data available for SIGNOR curated interactions for CEP78 Gene

Drugs & Compounds for CEP78 Gene

No Compound Related Data Available

Transcripts for CEP78 Gene

Unigene Clusters for CEP78 Gene

Centrosomal protein 78kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP78 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ·
SP1: - - - -
SP2: - - -
SP3:
SP4: -
SP5: -
SP6:
SP7: - - - - - - - - - - - - - - - - - - - - -

ExUns: 16d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CEP78 Gene

GeneLoc Exon Structure for
CEP78
ECgene alternative splicing isoforms for
CEP78

Expression for CEP78 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP78 Gene

Protein differential expression in normal tissues from HIPED for CEP78 Gene

This gene is overexpressed in Testis (28.4), Peripheral blood mononuclear cells (23.5), and CD8 Tcells (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP78 Gene



Protein tissue co-expression partners for CEP78 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP78 Gene:

CEP78

SOURCE GeneReport for Unigene cluster for CEP78 Gene:

Hs.374421

mRNA Expression by UniProt/SwissProt for CEP78 Gene:

Q5JTW2-CEP78_HUMAN
Tissue specificity: Widely expressed (PubMed:27588451, PubMed:27588452). Expressed in different retinal cell types with higher expression in cone compared to rod cells (at protein level) (PubMed:27588452).

Evidence on tissue expression from TISSUES for CEP78 Gene

  • Nervous system(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with CEP78: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP78 Gene

Orthologs for CEP78 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP78 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP78 33 34
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia CEP78 33 34
  • 89.1 (n)
cow
(Bos Taurus)
Mammalia CEP78 33 34
  • 88.73 (n)
rat
(Rattus norvegicus)
Mammalia Cep78 33
  • 82.17 (n)
mouse
(Mus musculus)
Mammalia Cep78 33 16 34
  • 81.53 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
-- 34
  • 49 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CEP78 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP78 33 34
  • 66.16 (n)
lizard
(Anolis carolinensis)
Reptilia CEP78 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep78 33
  • 62.63 (n)
Str.11363 33
zebrafish
(Danio rerio)
Actinopterygii cep78 33 34
  • 56.77 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2778 33
fruit fly
(Drosophila melanogaster)
Insecta CG7886 34
  • 18 (a)
OneToOne
Species where no ortholog for CEP78 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CEP78 Gene

ENSEMBL:
Gene Tree for CEP78 (if available)
TreeFam:
Gene Tree for CEP78 (if available)

Paralogs for CEP78 Gene

No data available for Paralogs for CEP78 Gene

Variants for CEP78 Gene

Sequence variations from dbSNP and Humsavar for CEP78 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1057517691 Pathogenic 78,240,365(+) AGAAA(G/T)TGAGT splice-donor-variant
rs1057517692 Pathogenic 78,243,491(+) GAAAC(-/C)TGGGC reference, frameshift-variant
rs1057517693 Pathogenic 78,240,369(+) AGTGA(A/G)TTTAA intron-variant
rs1057517694 Pathogenic 78,248,290(+) CTTTA(A/G)ATCAT splice-acceptor-variant
rs1057517695 Pathogenic 78,241,730(+) ACTCT(-/T)AAGAC reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP78 Gene

Variant ID Type Subtype PubMed ID
esv3620791 CNV gain 21293372
nsv614745 CNV loss 21841781

Variation tolerance for CEP78 Gene

Residual Variation Intolerance Score: 67.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP78 Gene

Human Gene Mutation Database (HGMD)
CEP78
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP78

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP78 Gene

Disorders for CEP78 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CEP78 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy and hearing loss
  • crdhl
sensorineural hearing loss
  • central hearing loss
usher syndrome
  • deafness-retinitis pigmentosa syndrome
cone-rod dystrophy
  • cone-rod retinal dystrophy-2
autosomal recessive disease
- elite association - COSMIC cancer census association via MalaCards
Search CEP78 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEP78_HUMAN
  • Cone-rod dystrophy and hearing loss (CRDHL) [MIM:617236]: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:27588451, ECO:0000269 PubMed:27588452, ECO:0000269 PubMed:27627988}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP78

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP78
genes like me logo Genes that share disorders with CEP78: view

No data available for Genatlas for CEP78 Gene

Publications for CEP78 Gene

  1. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen JS … Mann M (Nature 2003) 2 3 4 60
  2. CEP78 is mutated in a distinct type of Usher syndrome. (PMID: 27627988) Fu Q … Chen R (Journal of medical genetics 2016) 3 4 60
  3. Cep78 is a new centriolar protein involved in Plk4-induced centriole overduplication. (PMID: 27246242) Brunk K … Hoffmann I (Journal of cell science 2016) 3 4 60
  4. Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. (PMID: 27588452) Namburi P … Sharon D (American journal of human genetics 2016) 3 4 60
  5. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. (PMID: 27588451) Nikopoulos K … Rivolta C (American journal of human genetics 2016) 3 4 60

Products for CEP78 Gene

Sources for CEP78 Gene

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