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Aliases for CEP152 Gene

Aliases for CEP152 Gene

  • Centrosomal Protein 152kDa 2 3
  • Microcephaly, Primary Autosomal Recessive 4 2 3
  • Asterless 2 3
  • KIAA0912 4 6
  • MCPH9 3 6
  • SCKL5 3 6
  • Centrosomal Protein Of 152 KDa 3
  • Cep152 4
  • MCPH4 3

External Ids for CEP152 Gene

Previous Symbols for CEP152 Gene

  • MCPH4

Summaries for CEP152 Gene

Entrez Gene Summary for CEP152 Gene

  • This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

GeneCards Summary for CEP152 Gene

CEP152 (Centrosomal Protein 152kDa) is a Protein Coding gene. Diseases associated with CEP152 include microcephaly 9, primary, autosomal recessive and seckel syndrome 5. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot for CEP152 Gene

  • Necessary for centrosome duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Overexpression of CEP152 can drive amplification of centrioles.

Gene Wiki entry for CEP152 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP152 Gene

Genomics for CEP152 Gene

Genomic Location for CEP152 Gene

Start:
48,712,928 bp from pter
End:
48,811,146 bp from pter
Size:
98,219 bases
Orientation:
Minus strand

Genomic View for CEP152 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP152 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP152 Gene

Regulatory Elements for CEP152 Gene

Proteins for CEP152 Gene

  • Protein details for CEP152 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94986-CE152_HUMAN
    Recommended name:
    Centrosomal protein of 152 kDa
    Protein Accession:
    O94986
    Secondary Accessions:
    • E7ER66
    • Q17RV1
    • Q6NTA0

    Protein attributes for CEP152 Gene

    Size:
    1710 amino acids
    Molecular mass:
    195626 Da
    Quaternary structure:
    • Interacts (via N-terminus) with PLK4. Interacts (via C-terminus) with CENPJ (via-N-terminus). Interacts with CINP. Interacts with CEP63; this interaction recruits CEP152 to centrosomes.
    SequenceCaution:
    • Sequence=AAH69186.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA74935.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEP152 Gene

    Alternative splice isoforms for CEP152 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP152 Gene

Proteomics data for CEP152 Gene at MOPED

Post-translational modifications for CEP152 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys788, Lys848, Lys905, Lys996, and Lys1263

Other Protein References for CEP152 Gene

No data available for DME Specific Peptides for CEP152 Gene

Domains for CEP152 Gene

Protein Domains for CEP152 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CE152_HUMAN
Family:
  • Belongs to the CEP152 family.:
    • O94986
genes like me logo Genes that share domains with CEP152: view

No data available for Gene Families for CEP152 Gene

Function for CEP152 Gene

Molecular function for CEP152 Gene

UniProtKB/Swiss-Prot Function: Necessary for centrosome duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Overexpression of CEP152 can drive amplification of centrioles.

Gene Ontology (GO) - Molecular Function for CEP152 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20852615
GO:0019901 protein kinase binding IPI 20852615
genes like me logo Genes that share ontologies with CEP152: view

Phenotypes for CEP152 Gene

MGI mutant phenotypes for CEP152:
inferred from 1 alleles
GenomeRNAi human phenotypes for CEP152:
genes like me logo Genes that share phenotypes with CEP152: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CEP152 Gene

Localization for CEP152 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP152 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. Localizes to the deuterosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP152 Gene COMPARTMENTS Subcellular localization image for CEP152 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 4

Gene Ontology (GO) - Cellular Components for CEP152 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005815 microtubule organizing center --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CEP152: view

Pathways for CEP152 Gene

genes like me logo Genes that share pathways with CEP152: view

Gene Ontology (GO) - Biological Process for CEP152 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006996 organelle organization TAS --
GO:0007099 centriole replication ISS --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with CEP152: view

Transcripts for CEP152 Gene

Unigene Clusters for CEP152 Gene

Centrosomal protein 152kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEP152 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CEP152 Gene

GeneLoc Exon Structure for
CEP152
ECgene alternative splicing isoforms for
CEP152

Expression for CEP152 Gene

mRNA expression in normal human tissues for CEP152 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP152 Gene

SOURCE GeneReport for Unigene cluster for CEP152 Gene Hs.443005

genes like me logo Genes that share expressions with CEP152: view

Orthologs for CEP152 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP152 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP152 36
  • 99.02 (n)
  • 98.3 (a)
CEP152 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEP152 36
  • 84.07 (n)
  • 78.16 (a)
CEP152 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP152 36
  • 88.18 (n)
  • 82.36 (a)
CEP152 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep152 36
  • 75.3 (n)
  • 67.09 (a)
Cep152 16
Cep152 37
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP152 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP152 37
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep152 36
  • 74.6 (n)
  • 66.42 (a)
chicken
(Gallus gallus)
Aves CEP152 36
  • 60.67 (n)
  • 50.29 (a)
CEP152 37
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP152 37
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep152 36
  • 55.62 (n)
  • 43.48 (a)
zebrafish
(Danio rerio)
Actinopterygii cep152 36
  • 50.48 (n)
  • 39.97 (a)
cep152 37
  • 34 (a)
OneToOne
Species with no ortholog for CEP152:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP152 Gene

ENSEMBL:
Gene Tree for CEP152 (if available)
TreeFam:
Gene Tree for CEP152 (if available)

Paralogs for CEP152 Gene

No data available for Paralogs for CEP152 Gene

Variants for CEP152 Gene

Sequence variations from dbSNP and Humsavar for CEP152 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs784405 -- 48,740,502(+) ACGCT(C/T)TCTAG intron-variant
rs784406 -- 48,741,028(+) GCAAT(A/T)GTCAT intron-variant
rs784411 -- 48,747,600(+) AAGGA(C/T)GAGAG intron-variant
rs811478 -- 48,740,615(+) CTTAC(C/T)ttttt intron-variant
rs966251 -- 48,740,064(+) CCCCA(C/T)TTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP152 Gene

Variant ID Type Subtype PubMed ID
nsv833001 CNV Gain 17160897

Relevant External Links for CEP152 Gene

HapMap Linkage Disequilibrium report
CEP152
Human Gene Mutation Database (HGMD)
CEP152

Disorders for CEP152 Gene

(2) OMIM Diseases for CEP152 Gene (613529)

UniProtKB/Swiss-Prot

CE152_HUMAN
  • Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269 PubMed:20598275}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seckel syndrome 5 (SCKL5) [MIM:613823]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:21131973}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CEP152 Gene

Relevant External Links for CEP152

Genetic Association Database (GAD)
CEP152
Human Genome Epidemiology (HuGE) Navigator
CEP152
genes like me logo Genes that share disorders with CEP152: view

Publications for CEP152 Gene

  1. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. (PMID: 21131973) Kalay E. … Wollnik B. (Nat. Genet. 2011) 2 3 4
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3
  3. A Japanese-specific allele in the GALNT11 gene. (PMID: 20547088) Yuasa I. … Henke J. (Leg Med (Tokyo) 2010) 3 4
  4. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. (PMID: 20598275) Guernsey D.L. … Samuels M.E. (Am. J. Hum. Genet. 2010) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 3 4

Products for CEP152 Gene

Sources for CEP152 Gene

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