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Aliases for CEP152 Gene

Aliases for CEP152 Gene

  • Centrosomal Protein 152 2 3 5
  • Centrosomal Protein 152kDa 2 3
  • Asterless 2 3
  • Microcephaly, Primary Autosomal Recessive 4 3
  • Centrosomal Protein Of 152 KDa 3
  • KIAA0912 4
  • Cep152 4
  • MCPH4 3
  • MCPH9 3
  • SCKL5 3

External Ids for CEP152 Gene

Previous GeneCards Identifiers for CEP152 Gene

  • GC15M046818
  • GC15M049030
  • GC15M025862
  • GC15M049005
  • GC15M048712

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 152) is a Protein Coding gene. Diseases associated with CEP152 include Microcephaly 9, Primary, Autosomal Recessive and Seckel Syndrome 5. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot for CEP152 Gene

  • Necessary for centrosome duplication; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation (PubMed:21059844, PubMed:20852615). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615).

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

Regulatory Elements for CEP152 Gene

Enhancers for CEP152 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
GH15F048833 0.8 ENCODE 16.8 -21.9 -21905 0.9 ATF3 CEBPB TRIM24 CEP152 SHC4 EID1
GH15F048878 0.4 ENCODE 16.6 -66.3 -66306 1.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CEP152 DUT FGF7 SHC4 EID1 GC15M048879
GH15F048330 1.1 ENCODE 12.9 +479.9 479918 3.8 HDGF CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 SLC12A1 LOC105370807 FBN1 RPL7AP62 CEP152 DUT ENSG00000259488 GC15P048420
GH15F049044 1.1 ENCODE 12.1 -233.9 -233947 2.7 HDGF PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 DUT CEP152 FGF7 SHC4 ENSG00000259488 LOC105370809 DTWD1 SECISBP2L RN7SL577P
GH15F048809 0.4 ENCODE 10.8 +1.0 976 2.2 HDGF PKNOX1 ATF1 CREB3L1 WRNIP1 SIN3A DMAP1 BRCA1 YY1 GLIS2 DUT ENSG00000259488 CEP152 ENSG00000259700
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CEP152 on UCSC Golden Path with GeneCards custom track

Promoters for CEP152 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127169 818 1800 HDGF PKNOX1 ATF1 CREB3L1 WRNIP1 SIN3A DMAP1 BRCA1 YY1 GLIS2

Genomic Location for CEP152 Gene

Chromosome:
15
Start:
48,662,534 bp from pter
End:
48,811,918 bp from pter
Size:
149,385 bases
Orientation:
Minus strand

Genomic View for CEP152 Gene

Genes around CEP152 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP152 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP152 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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; the interaction is mutally exclusive with a PLK4:CEP192 interaction (PubMed:21059844, PubMed:20852615, PubMed:24997597). Interacts (via C-terminus) with CENPJ (via-N-terminus) (PubMed:20852615). Interacts with CINP (PubMed:21131973). Interacts with CDK5RAP2, WDR62, CEP63 and CEP131 (PubMed:21983783, PubMed:24613305, PubMed:26297806). CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:26297806). Interacts with DEUP1; this interaction recruits CEP152 to the deuterosome. The interactions with CEP63 and DEUP1 are mutually exclusive (By similarity).
    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

Post-translational modifications for CEP152 Gene

  • Ubiquitination at Lys 788, Lys 848, Lys 905, Lys 996, and Lys 1263
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP152 Gene

Domains & Families for CEP152 Gene

Protein Domains for CEP152 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP152 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94986

UniProtKB/Swiss-Prot:

CE152_HUMAN :
  • Belongs to the CEP152 family.
Family:
  • Belongs to the CEP152 family.
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; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation (PubMed:21059844, PubMed:20852615). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615).

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

Human Phenotype Ontology for CEP152 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEP152 Gene

MGI Knock Outs for CEP152:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Colocalizes with CDK5RAP2, WDR62 and 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 (PubMed:21983783, PubMed:26297806). Localizes to the deuterosome (By similarity). Localizes to pericentriolar material (PCM) (PubMed:26337392). {ECO:0000250 UniProtKB:Q498G2, ECO:0000269 PubMed:21983783, ECO:0000269 PubMed:26297806, ECO:0000269 PubMed:26337392}.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for CEP152 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 26337392
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21131973
GO:0005814 centriole IEA,IDA 22020124
genes like me logo Genes that share ontologies with CEP152: view

Pathways & Interactions 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:0007099 centriole replication IEA,ISS --
GO:0030030 cell projection organization IEA --
GO:0051298 centrosome duplication IMP 20852615
GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation IEA,ISS --
genes like me logo Genes that share ontologies with CEP152: view

No data available for SIGNOR curated interactions for CEP152 Gene

Transcripts for CEP152 Gene

Unigene Clusters for CEP152 Gene

Centrosomal protein 152kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for CEP152 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP152 Gene

This gene is overexpressed in Plasma (28.6), Spleen (17.8), and Liver (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP152 Gene



Protein tissue co-expression partners for CEP152 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP152 Gene:

CEP152

SOURCE GeneReport for Unigene cluster for CEP152 Gene:

Hs.443005
genes like me logo Genes that share expression patterns with CEP152: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CEP152 Gene

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 34 35
  • 99.02 (n)
dog
(Canis familiaris)
Mammalia CEP152 34 35
  • 88.18 (n)
cow
(Bos Taurus)
Mammalia CEP152 34 35
  • 84.07 (n)
mouse
(Mus musculus)
Mammalia Cep152 34 16 35
  • 75.3 (n)
rat
(Rattus norvegicus)
Mammalia Cep152 34
  • 74.6 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP152 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP152 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP152 34 35
  • 60.67 (n)
lizard
(Anolis carolinensis)
Reptilia CEP152 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep152 34
  • 55.62 (n)
zebrafish
(Danio rerio)
Actinopterygii cep152 34 35
  • 50.48 (n)
Species where no ortholog for CEP152 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)
  • 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
rs200879436 Seckel syndrome 5 (SCKL5) [MIM:613823], Pathogenic 48,768,237(+) CTTGT(C/T)TGTCA nc-transcript-variant, reference, missense
rs267606717 Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852], other 48,793,359(-) ACGTC(A/C)AATTC nc-transcript-variant, reference, missense
rs182018947 Pathogenic 48,767,448(+) TGCTG(A/C)TAAGT nc-transcript-variant, reference, stop-gained
rs267606718 Pathogenic 48,756,289(-) ATCAC(C/G/T)GAAAT nc-transcript-variant, reference, missense, stop-gained
rs398122977 Pathogenic 48,756,099(-) TGTAC(C/T)TGGGG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1141935 OTHER inversion 24896259
nsv833001 CNV gain 17160897

Variation tolerance for CEP152 Gene

Residual Variation Intolerance Score: 84.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.21; 80.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP152 Gene

Human Gene Mutation Database (HGMD)
CEP152
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP152

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP152 Gene

Disorders for CEP152 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CEP152 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 9, primary, autosomal recessive
  • primary autosomal recessive microcephaly type 9
seckel syndrome 5
  • seckel syndrome type 5
seckel syndrome 1
  • seckel syndrome
autosomal recessive primary microcephaly
  • mcph
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CEP152

Genetic Association Database (GAD)
CEP152
Human Genome Epidemiology (HuGE) Navigator
CEP152
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP152
genes like me logo Genes that share disorders with CEP152: view

No data available for Genatlas for CEP152 Gene

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 64
  2. MDM1 is a microtubule-binding protein that negatively regulates centriole duplication. (PMID: 26337392) Van de Mark D. … Stearns T. (Mol. Biol. Cell 2015) 3 4 64
  3. Proximity Interactions among Centrosome Components Identify Regulators of Centriole Duplication. (PMID: 24613305) Firat-Karalar E.N. … Stearns T. (Curr. Biol. 2014) 3 4 64
  4. Molecular basis for unidirectional scaffold switching of human Plk4 in centriole biogenesis. (PMID: 24997597) Park S.Y. … Lee K.S. (Nat. Struct. Mol. Biol. 2014) 3 4 64
  5. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S. … Sun J. (Carcinogenesis 2012) 3 46 64

Products for CEP152 Gene

Sources for CEP152 Gene

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