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Aliases for CEP120 Gene

Aliases for CEP120 Gene

  • Centrosomal Protein 120 2 3 5
  • Coiled-Coil Domain-Containing Protein 100 3 4
  • Centrosomal Protein 120kDa 2 3
  • CCDC100 3 4
  • Coiled-Coil Domain Containing 100 2
  • 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 120) is a Protein Coding gene. Diseases associated with CEP120 include Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly and Asphyxiating Thoracic Dystrophy. 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. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (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

Enhancers for CEP120 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around CEP120 on UCSC Golden Path with GeneCards custom track

Promoters for CEP120 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CEP120 Gene

Chromosome:
5
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

Genes around CEP120 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP120 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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, TACC3, CCDC52, TALPID3.
    SequenceCaution:
    • Sequence=BAC04155.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH10561.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

Post-translational modifications for CEP120 Gene

  • Ubiquitination at Lys 799
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP120 Gene

Domains & Families 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 :
  • Belongs to the CEP120 family.
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. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity).

Gene Ontology (GO) - Molecular Function for CEP120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26638075
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with CEP120: view

Phenotypes for CEP120 Gene

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

Human Phenotype Ontology for CEP120 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CEP120 Gene

miRTarBase miRNAs that target CEP120

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 3
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CEP120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole ISS --
genes like me logo Genes that share ontologies with CEP120: view

Pathways & Interactions for CEP120 Gene

SuperPathways for CEP120 Gene

No Data Available

Interacting Proteins for CEP120 Gene

Gene Ontology (GO) - Biological Process for CEP120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008283 cell proliferation IEA --
GO:0010825 positive regulation of centrosome duplication ISS --
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 and SIGNOR curated interactions for CEP120 Gene

Drugs & Compounds for CEP120 Gene

No Compound Related Data Available

Transcripts for CEP120 Gene

Unigene Clusters for CEP120 Gene

Centrosomal protein 120kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Protein differential expression in normal tissues from HIPED for CEP120 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.2), Plasma (21.8), and Blymphocyte (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP120 Gene



Protein tissue co-expression partners for CEP120 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP120 Gene:

CEP120

SOURCE GeneReport for Unigene cluster for CEP120 Gene:

Hs.483209
genes like me logo Genes that share expression patterns with CEP120: view

Primer 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
cow
(Bos Taurus)
Mammalia CEP120 34
  • 91.94 (n)
  • 93.58 (a)
CEP120 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP120 34
  • 91.01 (n)
  • 93.2 (a)
CEP120 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep120 34
  • 84.87 (n)
  • 89.85 (a)
Cep120 16
Cep120 35
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP120 34
  • 99.66 (n)
  • 99.7 (a)
CEP120 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep120 34
  • 86.27 (n)
  • 90.67 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP120 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves CEP120 34
  • 73.42 (n)
  • 73.9 (a)
CEP120 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP120 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep120 34
  • 71.17 (n)
  • 72.62 (a)
Str.8154 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5554 34
zebrafish
(Danio rerio)
Actinopterygii cep120 34
  • 60.2 (n)
  • 61.64 (a)
CABZ01084007.1 35
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6447 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4961 35
  • 45 (a)
OneToOne
Species where no ortholog for CEP120 was found in the sources mined by GeneCards:
  • 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
rs6595440 - 123,383,042(+) TTCTA(C/G)AGTCA reference, missense
rs1047437 - 123,350,033(-) GAACA(C/G)ATGAG reference, missense
rs2303721 - 123,346,674(+) CAATA(C/T)ACTGC reference, missense
rs2303720 - 123,346,640(+) TCAGG(A/C/T)GAGTC reference, missense
rs367600930 Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) 123,399,153(+) GGTAG(C/G)AAATG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv367e215 CNV deletion 23714750
esv2183522 CNV deletion 18987734
esv2730714 CNV deletion 23290073
esv2730715 CNV deletion 23290073
esv2730716 CNV deletion 23290073
esv3074175 CNV deletion 24192839
nsv1123979 CNV deletion 24896259
nsv1161297 CNV duplication 26073780
nsv327517 CNV deletion 16902084
nsv4980 CNV insertion 18451855
nsv830472 CNV gain 17160897
nsv968238 CNV duplication 23825009

Variation tolerance for CEP120 Gene

Residual Variation Intolerance Score: 38.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.59; 98.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP120 Gene

Human Gene Mutation Database (HGMD)
CEP120
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP120

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

Disorders for CEP120 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CEP120 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 13 with or without polydactyly
  • srtd13
asphyxiating thoracic dystrophy
  • ataxia telangiectasia
meckel syndrome 1
  • meckel syndrome
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CE120_HUMAN
  • Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) [MIM:616300]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:25361962}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP120

Genetic Association Database (GAD)
CEP120
Human Genome Epidemiology (HuGE) Navigator
CEP120
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP120
genes like me logo Genes that share disorders with CEP120: view

No data available for Genatlas for CEP120 Gene

Publications for CEP120 Gene

  1. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. (PMID: 25361962) Shaheen R. … Alkuraya F.S. (Hum. Mol. Genet. 2014) 3 4 65
  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 46 65
  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 46 65
  4. Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool. (PMID: 17920017) Xie Z. … Tsai L.H. (Neuron 2007) 2 3 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for CEP120 Gene

Sources for CEP120 Gene

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