Aliases for CEP68 Gene

Aliases for CEP68 Gene

  • Centrosomal Protein 68 2 3 5
  • KIAA0582 2 3 4
  • Centrosomal Protein Of 68 KDa 3 4
  • Centrosomal Protein 68kDa 2 3
  • Cep68 4

External Ids for CEP68 Gene

Previous HGNC Symbols for CEP68 Gene

  • KIAA0582

Previous GeneCards Identifiers for CEP68 Gene

  • GC02P065196
  • GC02P065283
  • GC02P065017

Summaries for CEP68 Gene

GeneCards Summary for CEP68 Gene

CEP68 (Centrosomal Protein 68) is a Protein Coding gene. Diseases associated with CEP68 include Retinitis Pigmentosa 28 and Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein domain specific binding. An important paralog of this gene is AKAP6.

UniProtKB/Swiss-Prot Summary for CEP68 Gene

  • Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting (PubMed:18042621). Required for localization of CDK5RAP2 to the centrosome during interphase (PubMed:24554434, PubMed:25503564).

Gene Wiki entry for CEP68 Gene

Additional gene information for CEP68 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP68 Gene

Genomics for CEP68 Gene

GeneHancer (GH) Regulatory Elements for CEP68 Gene

Promoters and enhancers for CEP68 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J065054 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 534.1 +1.1 1067 5.1 EP300 SIN3A NRF1 USF1 POLR2G SP1 NCOR1 PHF8 ZFX ZNF10 CEP68 LINC02245 NONHSAG027986.2 RAB1A RNU6-548P ACTR2 lnc-RAB1A-6
GH02J065126 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 33.7 +73.8 73803 8.3 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 JUND RAB1A lnc-RAB1A-5 CEP68 SERTAD2 LINC02576 ACTR2 piR-30977
GH02J065060 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 30.5 +7.1 7100 5.7 CTCF TCF12 SIN3A JUND FOS REST DNMT1 NR3C1 MYC CTBP1 CEP68 RAB1A RNU6-548P ACTR2 NONHSAG027986.2 lnc-RAB1A-6
GH02J065075 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 24 +19.8 19840 2 MYC HDAC3 NCOR1 NFIC REST FOS TBP PBX2 RBM22 NR2F2 CEP68 RAB1A LINC02576 ACTR2 SERTAD2 SLC1A4 lnc-RAB1A-6 piR-30977 lnc-RAB1A-5
GH02J065048 Enhancer 0.9 Ensembl ENCODE 33.8 -6.9 -6885 1 RFX1 ATF2 WT1 ZBTB17 ZNF263 ZNF184 TCF12 SIX4 IKZF3 ZNF189 CEP68 ACTR2 lnc-RAB1A-2 LINC02245 RF00017-3218 LINC02576
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP68 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP68

Top Transcription factor binding sites by QIAGEN in the CEP68 gene promoter:
  • AP-4
  • AREB6
  • FOXO1a
  • FOXO4
  • LCR-F1
  • Pax-4a
  • RP58
  • SEF-1 (1)
  • SRF
  • SRF (504 AA)

Genomic Locations for CEP68 Gene

Genomic Locations for CEP68 Gene
chr2:65,056,361-65,087,008
(GRCh38/hg38)
Size:
30,648 bases
Orientation:
Plus strand
chr2:65,283,495-65,314,142
(GRCh37/hg19)
Size:
30,648 bases
Orientation:
Plus strand

Genomic View for CEP68 Gene

Genes around CEP68 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP68 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP68 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP68 Gene

Proteins for CEP68 Gene

  • Protein details for CEP68 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q76N32-CEP68_HUMAN
    Recommended name:
    Centrosomal protein of 68 kDa
    Protein Accession:
    Q76N32
    Secondary Accessions:
    • B4DRQ1
    • D6W5F1
    • D6W5F2
    • O60326
    • Q9BQ18
    • Q9UDM9

    Protein attributes for CEP68 Gene

    Size:
    757 amino acids
    Molecular mass:
    81102 Da
    Quaternary structure:
    • Interacts with CNTLN; the interaction recruits CEP68 to the centrosome (PubMed:24554434). Interacts with the SCF(FBXW11) complex which contains SKP1, CUL1 and FBXW11; the interaction is probably mediated by FBXW11 and the complex also contains CDK5RAP2 and PCNT (PubMed:25503564). Also interacts with F-box protein BTRC (PubMed:25704143, PubMed:25503564). Interacts with serine/threonine-protein kinase PLK1; the interaction leads to phosphorylation of CEP68 and its subsequent degradation (PubMed:25503564). Interacts with NEK2; the interaction leads to phosphorylation of CEP68 (PubMed:24554434).
    SequenceCaution:
    • Sequence=BAA25508.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP68 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP68 Gene

Post-translational modifications for CEP68 Gene

  • Phosphorylation by PLK1 is required for binding to BTRC in prometaphase (PubMed:25503564). Phosphorylated directly or indirectly by NEK2 (PubMed:24554434). NEK2-mediated phosphorylation promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143).
  • Ubiquitinated and targeted for proteasomal degradation in early mitosis by the SCF(BTRC) and/or SCF(FBXW11) E3 ubiquitin-protein ligase complexes (PubMed:25704143, PubMed:25503564). Degradation is complete by prometaphase and is required for removal of CDK5RAP2 from the peripheral pericentriolar material and subsequent centriole separation (PubMed:25503564).
  • Ubiquitination at Lys317
  • Modification sites at PhosphoSitePlus

Other Protein References for CEP68 Gene

No data available for DME Specific Peptides for CEP68 Gene

Domains & Families for CEP68 Gene

Gene Families for CEP68 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP68 Gene

Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for CEP68 Gene

GenScript: Design optimal peptide antigens:
  • Centrosomal protein of 68 kDa (CEP68_HUMAN)
  • CEP68 protein (Q05C09_HUMAN)
genes like me logo Genes that share domains with CEP68: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP68 Gene

Function for CEP68 Gene

Molecular function for CEP68 Gene

UniProtKB/Swiss-Prot Function:
Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting (PubMed:18042621). Required for localization of CDK5RAP2 to the centrosome during interphase (PubMed:24554434, PubMed:25503564).

Phenotypes From GWAS Catalog for CEP68 Gene

Gene Ontology (GO) - Molecular Function for CEP68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019901 protein kinase binding IPI 24554434
GO:0019904 protein domain specific binding IPI 24554434
genes like me logo Genes that share ontologies with CEP68: view
genes like me logo Genes that share phenotypes with CEP68: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP68 Gene

Localization for CEP68 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP68 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes to thin fibers protruding away from the proximal ends of the two centrioles. Dissociates from interphase centrosomes at the onset of mitosis. {ECO:0000269 PubMed:18042621, ECO:0000269 PubMed:25503564, ECO:0000269 PubMed:25704143}.

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 CEP68 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA,IBA 18042621
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CEP68: view

Pathways & Interactions for CEP68 Gene

PathCards logo

SuperPathways for CEP68 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007098 centrosome cycle IMP 18042621
GO:0010457 centriole-centriole cohesion IBA,IMP 24554434
GO:0033365 protein localization to organelle IMP 24554434
genes like me logo Genes that share ontologies with CEP68: view

No data available for Pathways by source and SIGNOR curated interactions for CEP68 Gene

Drugs & Compounds for CEP68 Gene

(1) Drugs for CEP68 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker 1440
genes like me logo Genes that share compounds with CEP68: view

Transcripts for CEP68 Gene

mRNA/cDNA for CEP68 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP68 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4:
SP5: - -
SP6: -
SP7: - - - -
SP8:
SP9: - - - -

Relevant External Links for CEP68 Gene

GeneLoc Exon Structure for
CEP68

Expression for CEP68 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP68 Gene

Protein differential expression in normal tissues from HIPED for CEP68 Gene

This gene is overexpressed in CD8 Tcells (30.6), Testis (20.6), and Fetal ovary (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP68 Gene



Protein tissue co-expression partners for CEP68 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP68

SOURCE GeneReport for Unigene cluster for CEP68 Gene:

Hs.709257

Evidence on tissue expression from TISSUES for CEP68 Gene

  • Nervous system(4.8)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with CEP68: view

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 Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP68 Gene

Orthologs for CEP68 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP68 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP68 31 30
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CEP68 31 30
  • 77.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CEP68 31 30
  • 77.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep68 30
  • 75.25 (n)
mouse
(Mus musculus)
Mammalia Cep68 17 31 30
  • 74.87 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP68 31
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP68 31
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP68 31
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP68 31
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cep68 31
  • 22 (a)
OneToOne
Species where no ortholog for CEP68 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP68 Gene

ENSEMBL:
Gene Tree for CEP68 (if available)
TreeFam:
Gene Tree for CEP68 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP68: view image

Paralogs for CEP68 Gene

Paralogs for CEP68 Gene

(1) SIMAP similar genes for CEP68 Gene using alignment to 3 proteins:

  • CEP68_HUMAN
  • F5H2Y2_HUMAN
  • Q05C09_HUMAN
genes like me logo Genes that share paralogs with CEP68: view

Variants for CEP68 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP68 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs12611491 - p.Arg27Gly
rs35089924 - p.Glu473Gln
rs35501092 - p.Leu397Pro
rs35694840 - p.Arg462Cys
rs7572857 - p.Gly74Ser

Additional dbSNP identifiers (rs#s) for CEP68 Gene

Structural Variations from Database of Genomic Variants (DGV) for CEP68 Gene

Variant ID Type Subtype PubMed ID
esv2666088 CNV deletion 23128226
esv2674666 CNV deletion 23128226
esv3591092 CNV loss 21293372
esv3591093 CNV loss 21293372
nsv834246 CNV loss 17160897

Variation tolerance for CEP68 Gene

Residual Variation Intolerance Score: 90.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.22; 84.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP68 Gene

Human Gene Mutation Database (HGMD)
CEP68
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP68

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP68 Gene

Disorders for CEP68 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CEP68 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search CEP68 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CEP68

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CEP68: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP68 Gene

Publications for CEP68 Gene

  1. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen JS … Mann M (Nature 2003) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  3. Degradation of Cep68 and PCNT cleavage mediate Cep215 removal from the PCM to allow centriole separation, disengagement and licensing. (PMID: 25503564) Pagan JK … Pagano M (Nature cell biology 2015) 3 4 54
  4. Cep68 can be regulated by Nek2 and SCF complex. (PMID: 25704143) Man X … Lim YP (European journal of cell biology 2015) 3 4 54
  5. Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion. (PMID: 24554434) Fang G … Yuan L (Journal of cell science 2014) 3 4 54

Products for CEP68 Gene

Sources for CEP68 Gene