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] See more...

Aliases for CEP76 Gene

Aliases for CEP76 Gene

  • Centrosomal Protein 76 2 3 5
  • Centrosomal Protein Of 76 KDa 3 4
  • Centrosomal Protein 76kDa 2 3
  • C18orf9 3 4
  • HsT1705 2 3
  • Chromosome 18 Open Reading Frame 9 2
  • FLJ12542 2
  • CEP76 5
  • 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
  • GC18M015615
  • GC18M015723
  • GC18M015771
  • GC18M016778
  • GC18M013540
  • GC18M013836
  • GC18M014098
  • GC18M014394
  • GC18M014686
  • GC18M014947
  • GC18M015224
  • GC18M015512
  • GC18M017322
  • GC18M017879

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 Nail Disorder, Nonsyndromic Congenital, 4. Among its related pathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is CC2D2A.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP76 Gene

Genomics for CEP76 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP76 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 CEP76 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP76

Top Transcription factor binding sites by QIAGEN in the CEP76 gene promoter:
  • E47
  • HOXA3
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • Tal-1
  • TBP
  • YY1

Genomic Locations for CEP76 Gene

Latest Assembly
chr18:12,661,833-12,702,777
(GRCh38/hg38)
Size:
40,945 bases
Orientation:
Minus strand

Previous Assembly
chr18:12,661,955-12,702,776
(GRCh37/hg19 by Entrez Gene)
Size:
40,822 bases
Orientation:
Minus strand

chr18:12,661,832-12,702,776
(GRCh37/hg19 by Ensembl)
Size:
40,945 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; Note=Truncated C-terminus.; 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

Gene Families for CEP76 Gene

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

Protein Domains for CEP76 Gene

Suggested Antigen Peptide Sequences for CEP76 Gene

GenScript: Design optimal peptide antigens:
  • Centrosomal protein of 76 kDa (CEP76_HUMAN)

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

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.

Phenotypes From GWAS Catalog for CEP76 Gene

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

Animal Models for CEP76 Gene

MGI Knock Outs for CEP76:
  • Cep76 Cep76<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for CEP76

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP76

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
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 CEP76 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 2
mitochondrion 1
plasma membrane 0
extracellular 0

Gene Ontology (GO) - Cellular Components for CEP76 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA,IDA 19460342
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CEP76: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEP76 Gene

Pathways & Interactions for CEP76 Gene

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

SIGNOR curated interactions for CEP76 Gene

Inactivates:

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:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0046599 regulation of centriole replication IMP 19460342
GO:0097711 ciliary basal body-plasma membrane docking TAS --
genes like me logo Genes that share ontologies with CEP76: view

Drugs & Compounds for CEP76 Gene

No Compound Related Data Available

Transcripts for CEP76 Gene

mRNA/cDNA for CEP76 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP76

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

No ASD Table

Relevant External Links for CEP76 Gene

GeneLoc Exon Structure for
CEP76

Expression for CEP76 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CEP76 Gene



Protein tissue co-expression partners for CEP76 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP76

SOURCE GeneReport for Unigene cluster for CEP76 Gene:

Hs.236940

Evidence on tissue expression from TISSUES for CEP76 Gene

  • Nervous system(4.3)
  • Stomach(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with CEP76: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia CEP76 29 30
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP76 29 30
  • 95.19 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 93 (a)
OneToMany
-- 30
  • 65 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia CEP76 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CEP76 29 30
  • 91.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cep76 29 16 30
  • 90.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cep76 29
  • 89.73 (n)
Chicken
(Gallus gallus)
Aves CEP76 29 30
  • 80.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 83 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cep76 29
  • 74.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii cep76 29 30
  • 66.36 (n)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13460 29
Species where no ortholog for CEP76 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 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 CEP76 Gene

ENSEMBL:
Gene Tree for CEP76 (if available)
TreeFam:
Gene Tree for CEP76 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP76: view image
Alliance of Genome Resources:
Additional Orthologs for CEP76

Paralogs for CEP76 Gene

Paralogs for CEP76 Gene

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

Variants for CEP76 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP76 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs1363884891 Likely Pathogenic: Short stature 12,673,471(-) C/T
NM_024899.4(CEP76):c.1874G>A (p.Arg625His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs146808596 Uncertain Significance: Short stature 12,686,399(-) C/T
NM_024899.4(CEP76):c.985G>A (p.Ala329Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs773662461 Uncertain Significance: Short stature 12,701,069(-) T/C
NM_024899.4(CEP76):c.108A>G (p.Ile36Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CEP76 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CEP76 Gene

Human Gene Mutation Database (HGMD)
CEP76
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP76
Leiden Open Variation Database (LOVD)
CEP76

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP76 Gene

Disorders for CEP76 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CEP76 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CEP76 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 WY … Dynlacht BD (Developmental cell 2009) 3 4 22
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen JS … Mann M (Nature 2003) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for CEP76 Gene

Sources for CEP76 Gene