Free for academic non-profit institutions. Other users need a Commercial license

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 Seckel Syndrome 5 and Microcephaly 9, Primary, Autosomal Recessive. Among its related pathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Gene Ontology (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

Additional gene information for CEP152 Gene

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

Genomics for CEP152 Gene

GeneHancer (GH) Regulatory Elements for CEP152 Gene

Promoters and enhancers for CEP152 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
GH15J048809 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 680 +1.0 976 2.2 HDGF PKNOX1 CLOCK ARNT SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 CEP152 ENSG00000259700 COPS2 GC15P048773
GH15J048330 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 21.7 +479.9 479917 3.8 HDGF FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B DUT ENSG00000259488 SLC12A1 LOC105370807 CEP152 RPL7AP62 FBN1 GC15P048420
GH15J049154 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13 -343.8 -343750 3.1 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 COPS2 SECISBP2L NDUFAF4P1 GALK2 DTWD1 CEP152 DUT FGF7 FAM227B
GH15J049169 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.3 -359.0 -359019 3.4 HDGF PKNOX1 ARNT SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF766 GALK2 MIR4716 CEP152 DUT SECISBP2L FGF7 FAM227B RPL15P19
GH15J049618 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.3 -810.1 -810053 6.1 CLOCK MLX ZFP64 YBX1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 FAM227B DTWD1 GABPB1-AS1 USP8 ENSG00000259298 ENSG00000259715 GABPB1 CEP152 ENSG00000259618 FGF7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEP152 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEP152 gene promoter:

Genomic Locations for CEP152 Gene

Genomic Locations for CEP152 Gene
chr15:48,662,534-48,811,918
(GRCh38/hg38)
Size:
149,385 bases
Orientation:
Minus strand
chr15:49,005,125-49,103,343
(GRCh37/hg19)

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 Lys1263, Lys996, posLast=905905, posLast=848848, and posLast=788788
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP152 Gene

Domains & Families for CEP152 Gene

Gene Families for CEP152 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

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).

Phenotypes From GWAS Catalog for CEP152 Gene

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:
  • Cep152 Cep152<tm1a(EUCOMM)Wtsi>

Animal Model Products

Clone 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
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 CEP152 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

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 ISS,IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0030030 cell projection organization IEA --
GO:0051298 centrosome duplication IMP 20852615
genes like me logo Genes that share ontologies with CEP152: view

No data available for SIGNOR curated interactions for CEP152 Gene

Drugs & Compounds for CEP152 Gene

No Compound Related Data Available

Transcripts for CEP152 Gene

Unigene Clusters for CEP152 Gene

Centrosomal protein 152kDa:
Representative Sequences:

Clone 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 CGAP 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, 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

Evidence on tissue expression from TISSUES for CEP152 Gene

  • Nervous system(4.3)
  • Lung(4.2)
  • Heart(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP152 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CEP152: view

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 33
  • 99.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CEP152 34 33
  • 88.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CEP152 34 33
  • 84.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cep152 16 34 33
  • 75.3 (n)
rat
(Rattus norvegicus)
Mammalia Cep152 33
  • 74.6 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP152 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP152 34
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP152 34 33
  • 60.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP152 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep152 33
  • 55.62 (n)
zebrafish
(Danio rerio)
Actinopterygii cep152 34 33
  • 50.48 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for CEP152: view image

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 Variation AA Info Type
rs1008867307 uncertain-significance, Primary Microcephaly, Recessive, Seckel syndrome 48,756,347(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1020602020 uncertain-significance, Seckel syndrome, Primary Microcephaly, Recessive 48,810,963(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1048042 uncertain-significance, Primary autosomal recessive microcephaly 9 48,738,267(-) T/C coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs111917814 uncertain-significance, Primary autosomal recessive microcephaly 9 48,793,309(-) C/T genic_upstream_transcript_variant, intron_variant
rs114085678 benign, likely-benign, not specified, Seckel syndrome, Primary Microcephaly, Recessive 48,739,083(-) A/G 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant

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)

Additional Variant Information 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

(6) MalaCards diseases for CEP152 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Additional Disease Information for CEP152

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 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 (Nature genetics 2011) 2 3 4 58
  2. MDM1 is a microtubule-binding protein that negatively regulates centriole duplication. (PMID: 26337392) Van de Mark D … Stearns T (Molecular biology of the cell 2015) 3 4 58
  3. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A … Reiter JF (eLife 2015) 3 4 58
  4. Molecular basis for unidirectional scaffold switching of human Plk4 in centriole biogenesis. (PMID: 24997597) Park SY … Lee KS (Nature structural & molecular biology 2014) 3 4 58
  5. Proximity interactions among centrosome components identify regulators of centriole duplication. (PMID: 24613305) Firat-Karalar EN … Stearns T (Current biology : CB 2014) 3 4 58

Products for CEP152 Gene

Sources for CEP152 Gene

Content
Loading form....