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Aliases for CEP76 Gene

Aliases for CEP76 Gene

  • Centrosomal Protein 76 2 3 5
  • Centrosomal Protein 76kDa 2 3
  • C18orf9 3 4
  • Chromosome 18 Open Reading Frame 9 2
  • Centrosomal Protein Of 76 KDa 3
  • HsT1705 3
  • Cep76 4

External Ids for CEP76 Gene

Previous HGNC Symbols for CEP76 Gene

  • C18orf9

Previous GeneCards Identifiers for CEP76 Gene

  • GC18M012663
  • GC18M012734
  • GC18M012846
  • GC18M013246
  • GC18M013076
  • GC18M013079
  • GC18M013540

Summaries for CEP76 Gene

Entrez Gene Summary for CEP76 Gene

  • This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for CEP76 Gene

CEP76 (Centrosomal Protein 76) is a Protein Coding gene. Diseases associated with CEP76 include Jawad Syndrome and Anonychia Congenita. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for CEP76 Gene

  • Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication.

Gene Wiki entry for CEP76 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP76 Gene

Genomics for CEP76 Gene

Regulatory Elements for CEP76 Gene

Enhancers for CEP76 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around CEP76 on UCSC Golden Path with GeneCards custom track

Promoters for CEP76 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP76 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEP76 Gene

Chromosome:
18
Start:
12,661,750 bp from pter
End:
12,702,777 bp from pter
Size:
41,028 bases
Orientation:
Minus strand

Genomic View for CEP76 Gene

Genes around CEP76 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP76 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP76 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP76 Gene

Proteins for CEP76 Gene

  • Protein details for CEP76 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAP6-CEP76_HUMAN
    Recommended name:
    Centrosomal protein of 76 kDa
    Protein Accession:
    Q8TAP6
    Secondary Accessions:
    • B0YJB2
    • B4DXG5
    • B4DZW1
    • Q658N5
    • Q9H9U7

    Protein attributes for CEP76 Gene

    Size:
    659 amino acids
    Molecular mass:
    74413 Da
    Quaternary structure:
    • Interacts with CCP110 and CEP97.
    SequenceCaution:
    • Sequence=BAG64223.1; Type=Erroneous termination; Positions=648; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP76 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP76 Gene

Post-translational modifications for CEP76 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CEP76 Gene

Domains & Families for CEP76 Gene

Protein Domains for CEP76 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP76 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TAP6

UniProtKB/Swiss-Prot:

CEP76_HUMAN :
  • Belongs to the CEP76 family.
Family:
  • Belongs to the CEP76 family.
genes like me logo Genes that share domains with CEP76: view

No data available for Gene Families for CEP76 Gene

Function for CEP76 Gene

Molecular function for CEP76 Gene

UniProtKB/Swiss-Prot Function:
Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication.

Gene Ontology (GO) - Molecular Function for CEP76 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CEP76: view

Phenotypes for CEP76 Gene

MGI mutant phenotypes for CEP76:
inferred from 1 alleles
GenomeRNAi human phenotypes for CEP76:
genes like me logo Genes that share phenotypes with CEP76: view

Animal Models for CEP76 Gene

MGI Knock Outs for CEP76:

Animal Model Products

  • Taconic Biosciences Mouse Models for CEP76

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CEP76 Gene

Localization for CEP76 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP76 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Does not localize along the ciliary axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP76 Gene COMPARTMENTS Subcellular localization image for CEP76 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CEP76 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IDA 19460342
GO:0005829 cytosol TAS --
GO:0043234 protein complex IDA 24421332
genes like me logo Genes that share ontologies with CEP76: view

Pathways & Interactions for CEP76 Gene

genes like me logo Genes that share pathways with CEP76: view

Gene Ontology (GO) - Biological Process for CEP76 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0046599 regulation of centriole replication IMP 19460342
genes like me logo Genes that share ontologies with CEP76: view

No data available for SIGNOR curated interactions for CEP76 Gene

Drugs & Compounds for CEP76 Gene

No Compound Related Data Available

Transcripts for CEP76 Gene

Unigene Clusters for CEP76 Gene

Centrosomal protein 76kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP76 Gene

No ASD Table

Relevant External Links for CEP76 Gene

GeneLoc Exon Structure for
CEP76
ECgene alternative splicing isoforms for
CEP76

Expression for CEP76 Gene

mRNA expression in normal human tissues for CEP76 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CEP76 Gene

This gene is overexpressed in Testis (x4.7).

Protein differential expression in normal tissues from HIPED for CEP76 Gene

This gene is overexpressed in Testis (49.8) and Retina (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP76 Gene



Protein tissue co-expression partners for CEP76 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP76 Gene:

CEP76

SOURCE GeneReport for Unigene cluster for CEP76 Gene:

Hs.236940
genes like me logo Genes that share expression patterns with CEP76: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CEP76 Gene

Orthologs for CEP76 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP76 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEP76 34
  • 91.05 (n)
  • 96.81 (a)
CEP76 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP76 34
  • 95.19 (n)
  • 98.18 (a)
CEP76 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep76 34
  • 90.29 (n)
  • 97.72 (a)
Cep76 16
Cep76 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP76 34
  • 99.37 (n)
  • 99.69 (a)
CEP76 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep76 34
  • 89.73 (n)
  • 97.72 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP76 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves CEP76 34
  • 80.32 (n)
  • 86.19 (a)
CEP76 35
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 72 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cep76 34
  • 74.56 (n)
  • 81.03 (a)
zebrafish
(Danio rerio)
Actinopterygii cep76 34
  • 66.36 (n)
  • 69.04 (a)
cep76 35
  • 69 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13460 34
Species where no ortholog for CEP76 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)
  • 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 CEP76 Gene

ENSEMBL:
Gene Tree for CEP76 (if available)
TreeFam:
Gene Tree for CEP76 (if available)

Paralogs for CEP76 Gene

No data available for Paralogs for CEP76 Gene

Variants for CEP76 Gene

Structural Variations from Database of Genomic Variants (DGV) for CEP76 Gene

Variant ID Type Subtype PubMed ID
esv2716814 CNV deletion 23290073
nsv1063125 CNV loss 25217958
nsv1064273 CNV gain 25217958
nsv1123161 CNV deletion 24896259
nsv523743 CNV loss 19592680
nsv576507 CNV loss 21841781

Variation tolerance for CEP76 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP76 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP76

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for CEP76 Gene

Disorders for CEP76 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CEP76 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
jawad syndrome
  • microcephaly with mental retardation and digital anomalies
anonychia congenita
  • nail disorder, nonsyndromic congenital, 4
meckel syndrome 1
  • meckel syndrome
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CEP76 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CEP76

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP76
genes like me logo Genes that share disorders with CEP76: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP76 Gene

Publications for CEP76 Gene

  1. Cep76, a centrosomal protein that specifically restrains centriole reduplication. (PMID: 19460342) Tsang W.Y. … Dynlacht B.D. (Dev. Cell 2009) 3 4 22 65
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 65

Products for CEP76 Gene

Sources for CEP76 Gene

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