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Aliases for CEP120 Gene

Aliases for CEP120 Gene

  • Centrosomal Protein 120kDa 2 3
  • CCDC100 3 4 6
  • Coiled-Coil Domain-Containing Protein 100 3 4
  • Coiled-Coil Domain Containing 100 2 3
  • Centrosomal Protein Of 120 KDa 3
  • SRTD13 3
  • Cep120 4

External Ids for CEP120 Gene

Previous HGNC Symbols for CEP120 Gene

  • CCDC100

Previous GeneCards Identifiers for CEP120 Gene

  • GC05M122708
  • GC05M117868

Summaries for CEP120 Gene

Entrez Gene Summary for CEP120 Gene

  • This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for CEP120 Gene

CEP120 (Centrosomal Protein 120kDa) is a Protein Coding gene. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for CEP120 Gene

  • Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. May play a role in centriole duplication during mitosis (By similarity).

Gene Wiki entry for CEP120 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP120 Gene

Genomics for CEP120 Gene

Regulatory Elements for CEP120 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CEP120 Gene

Start:
123,344,885 bp from pter
End:
123,423,592 bp from pter
Size:
78,708 bases
Orientation:
Minus strand

Genomic View for CEP120 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP120 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP120 Gene

Proteins for CEP120 Gene

  • Protein details for CEP120 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N960-CE120_HUMAN
    Recommended name:
    Centrosomal protein of 120 kDa
    Protein Accession:
    Q8N960
    Secondary Accessions:
    • Q6AI52
    • Q6AW89
    • Q8IWB5
    • Q8N9Y0
    • Q8NDE8

    Protein attributes for CEP120 Gene

    Size:
    986 amino acids
    Molecular mass:
    112640 Da
    Quaternary structure:
    • Interacts with TACC2 and TACC3. Interacts with CCDC52.
    SequenceCaution:
    • Sequence=BAC04155.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH10561.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEP120 Gene

    Alternative splice isoforms for CEP120 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP120 Gene

Proteomics data for CEP120 Gene at MOPED

Post-translational modifications for CEP120 Gene

  • Ubiquitination at Lys799
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP120 Gene

Domains for CEP120 Gene

Protein Domains for CEP120 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP120 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N960

UniProtKB/Swiss-Prot:

CE120_HUMAN :
  • Q8N960
Family:
  • Belongs to the CEP120 family.
genes like me logo Genes that share domains with CEP120: view

No data available for Gene Families for CEP120 Gene

Function for CEP120 Gene

Molecular function for CEP120 Gene

UniProtKB/Swiss-Prot Function: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. May play a role in centriole duplication during mitosis (By similarity).

Gene Ontology (GO) - Molecular Function for CEP120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with CEP120: view

Phenotypes for CEP120 Gene

GenomeRNAi human phenotypes for CEP120:
genes like me logo Genes that share phenotypes with CEP120: view

Animal Model Products

CRISPR Products

miRNA for CEP120 Gene

miRTarBase miRNAs that target CEP120

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP120

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CEP120 Gene

Localization for CEP120 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP120 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Regulates the localization of TACC3 to the centrosome in neural progenitors in vivo. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP120 Gene COMPARTMENTS Subcellular localization image for CEP120 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CEP120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with CEP120: view

Pathways for CEP120 Gene

SuperPathways for CEP120 Gene

No Data Available

Interacting Proteins for CEP120 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000303058%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000264657%0d%0a
Selected Interacting proteins: Q8N960-CE120_HUMAN ENSP00000303058 for CEP120 Gene via MINT STRING

Gene Ontology (GO) - Biological Process for CEP120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization --
GO:0008283 cell proliferation --
GO:0021987 cerebral cortex development IEA --
GO:0022008 neurogenesis IEA --
GO:0022027 interkinetic nuclear migration IEA --
genes like me logo Genes that share ontologies with CEP120: view

No data available for Pathways by source for CEP120 Gene

Transcripts for CEP120 Gene

Unigene Clusters for CEP120 Gene

Centrosomal protein 120kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP120

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CEP120

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP120 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1:
SP2: - -

Relevant External Links for CEP120 Gene

GeneLoc Exon Structure for
CEP120
ECgene alternative splicing isoforms for
CEP120

Expression for CEP120 Gene

mRNA expression in normal human tissues for CEP120 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP120 Gene

SOURCE GeneReport for Unigene cluster for CEP120 Gene Hs.483209

genes like me logo Genes that share expressions with CEP120: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CEP120 Gene

Orthologs for CEP120 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP120 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP120 35
  • 99.66 (n)
  • 99.7 (a)
CEP120 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEP120 35
  • 91.94 (n)
  • 93.58 (a)
CEP120 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP120 35
  • 91.01 (n)
  • 93.2 (a)
CEP120 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep120 35
  • 84.87 (n)
  • 89.85 (a)
Cep120 16
Cep120 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP120 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cep120 35
  • 86.27 (n)
  • 90.67 (a)
chicken
(Gallus gallus)
Aves CEP120 35
  • 73.42 (n)
  • 73.9 (a)
CEP120 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP120 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5554 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cep120 35
  • 71.17 (n)
  • 72.62 (a)
Str.8154 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01084007.1 36
  • 57 (a)
OneToOne
cep120 35
  • 60.2 (n)
  • 61.64 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6447 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4961 36
  • 45 (a)
OneToOne
Species with no ortholog for CEP120:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 CEP120 Gene

ENSEMBL:
Gene Tree for CEP120 (if available)
TreeFam:
Gene Tree for CEP120 (if available)

Paralogs for CEP120 Gene

No data available for Paralogs for CEP120 Gene

Variants for CEP120 Gene

Sequence variations from dbSNP and Humsavar for CEP120 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs485847 -- 123,350,107(+) AAAGA(A/G)ACAAG intron-variant
rs486812 -- 123,366,526(+) TTTAC(C/T)AGAAG intron-variant
rs548948 -- 123,384,701(+) GCCAT(C/T)TGAAT intron-variant
rs590279 -- 123,391,444(+) AATAT(A/T)ATGCA intron-variant
rs683246 -- 123,356,784(+) ATTTT(G/T)GTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP120 Gene

Variant ID Type Subtype PubMed ID
nsv830472 CNV Gain 17160897
nsv4980 CNV Insertion 18451855
esv2183522 CNV Deletion 18987734
esv2730714 CNV Deletion 23290073
esv2730715 CNV Deletion 23290073
nsv327517 CNV Loss 16902084
esv2730716 CNV Deletion 23290073

Relevant External Links for CEP120 Gene

HapMap Linkage Disequilibrium report
CEP120
Human Gene Mutation Database (HGMD)
CEP120

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP120 Gene

Disorders for CEP120 Gene

Relevant External Links for CEP120

Genetic Association Database (GAD)
CEP120
Human Genome Epidemiology (HuGE) Navigator
CEP120
genes like me logo Genes that share disorders with CEP120: view

No data available for UniProtKB/Swiss-Prot for CEP120 Gene

Publications for CEP120 Gene

  1. Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool. (PMID: 17920017) Xie Z. … Tsai L.H. (Neuron 2007) 2 3
  2. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (PMID: 19079260) Thorleifsson G. … Stefansson K. (Nat. Genet. 2009) 3 48
  3. Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. (PMID: 19584346) Vasan R.S. … Blankenberg S. (JAMA 2009) 3 48
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for CEP120 Gene

Sources for CEP120 Gene

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