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Aliases for CEP162 Gene

Aliases for CEP162 Gene

  • Centrosomal Protein 162 2 3 5
  • KIAA1009 2 3 4
  • Centrosomal Protein 162kDa 2 3
  • Protein QN1 Homolog 3 4
  • C6orf84 3 4
  • QN1 3 4
  • Chromosome 6 Open Reading Frame 84 2
  • Centrosomal Protein Of 162 KDa 3
  • Cep162 4

External Ids for CEP162 Gene

Previous HGNC Symbols for CEP162 Gene

  • C6orf84
  • KIAA1009

Previous GeneCards Identifiers for CEP162 Gene

  • GC06M084833

Summaries for CEP162 Gene

GeneCards Summary for CEP162 Gene

CEP162 (Centrosomal Protein 162) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

UniProtKB/Swiss-Prot for CEP162 Gene

  • Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules.

Additional gene information for CEP162 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP162 Gene

Genomics for CEP162 Gene

Regulatory Elements for CEP162 Gene

Enhancers for CEP162 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
GH06H083866 1.7 FANTOM5 Ensembl ENCODE 99.8 +360.0 359968 2 PKNOX1 FEZF1 ZNF2 CBX5 ZNF302 ZNF416 ZNF143 FOS ZNF548 CEBPZ CEP162 DOPEY1 UBE3D RWDD2A RIPPLY2 CYB5R4 PIR41363 GC06P083900
GH06H083853 1.2 Ensembl ENCODE 51.6 +374.2 374215 1 PKNOX1 FEZF1 GLI4 ZNF2 GLIS2 KLF7 ZNF202 SP3 REST GLIS1 CEP162 RIPPLY2 DOPEY1 GC06M083852
GH06H084051 1.9 VISTA Ensembl ENCODE dbSUPER 20.8 +175.5 175450 2 PKNOX1 FEZF1 GLIS2 EGR1 ZNF366 SCRT2 EGR2 ZEB2 ZNF592 TFDP1 MRAP2 CEP162 RIPPLY2 PIR38382 GC06P084130
GH06H083859 1.2 ENCODE 31 +367.8 367760 2 MLX ZFP64 DMAP1 YBX1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 CEP162 RIPPLY2 CYB5R4 PIR41363
GH06H084227 1.1 ENCODE 33.5 +0.1 141 1 PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 CEP162 RIPPLY2 GC06P084130
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CEP162 on UCSC Golden Path with GeneCards custom track

Promoters for CEP162 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000199554 289 1999 PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF207 ZNF143

Genomic Location for CEP162 Gene

Chromosome:
6
Start:
84,124,241 bp from pter
End:
84,227,890 bp from pter
Size:
103,650 bases
Orientation:
Minus strand

Genomic View for CEP162 Gene

Genes around CEP162 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP162 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP162 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP162 Gene

Proteins for CEP162 Gene

  • Protein details for CEP162 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TB80-CE162_HUMAN
    Recommended name:
    Centrosomal protein of 162 kDa
    Protein Accession:
    Q5TB80
    Secondary Accessions:
    • A6PVL7
    • A6PVL8
    • Q6P475
    • Q9Y2L2

    Protein attributes for CEP162 Gene

    Size:
    1403 amino acids
    Molecular mass:
    161943 Da
    Quaternary structure:
    • Interacts with CEP290 (PubMed:23644468). Interacts with CPNE4 (By similarity). Interacts with alpha-tubulin (By similarity).
    Miscellaneous:
    • Promotes ectopic assembly of transition zone components at cilia tips when targeted outside distal ends of centrioles, generating extra-long cilia with strikingly swollen tips.
    SequenceCaution:
    • Sequence=BAA76853.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP162 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP162 Gene

Post-translational modifications for CEP162 Gene

  • Ubiquitination at posLast=908908
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP162 Gene

Domains & Families for CEP162 Gene

Gene Families for CEP162 Gene

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

Protein Domains for CEP162 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CEP162 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5TB80

UniProtKB/Swiss-Prot:

CE162_HUMAN :
  • Belongs to the CEP162 family.
Family:
  • Belongs to the CEP162 family.
genes like me logo Genes that share domains with CEP162: view

Function for CEP162 Gene

Molecular function for CEP162 Gene

UniProtKB/Swiss-Prot Function:
Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules.

Phenotypes From GWAS Catalog for CEP162 Gene

Gene Ontology (GO) - Molecular Function for CEP162 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23644468
genes like me logo Genes that share ontologies with CEP162: view
genes like me logo Genes that share phenotypes with CEP162: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP162 Gene

Localization for CEP162 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP162 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle. Nucleus. Note=Localizes to the distal end of centrioles throughout the cell cycle. During ciliogenesis, found at the cilia base. Localizes to spindle microtubules during mitosis.

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 CEP162 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP162 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IDA,IEA 23644468
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with CEP162: view

Pathways & Interactions for CEP162 Gene

genes like me logo Genes that share pathways with CEP162: view

Pathways by source for CEP162 Gene

Gene Ontology (GO) - Biological Process for CEP162 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IMP 23644468
GO:0097711 ciliary basal body docking TAS --
genes like me logo Genes that share ontologies with CEP162: view

No data available for SIGNOR curated interactions for CEP162 Gene

Drugs & Compounds for CEP162 Gene

No Compound Related Data Available

Transcripts for CEP162 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP162 Gene

No ASD Table

Relevant External Links for CEP162 Gene

GeneLoc Exon Structure for
CEP162
ECgene alternative splicing isoforms for
CEP162

Expression for CEP162 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP162 Gene

Protein differential expression in normal tissues from HIPED for CEP162 Gene

This gene is overexpressed in Stomach (31.4), Monocytes (13.9), and Adrenal (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP162 Gene



NURSA nuclear receptor signaling pathways regulating expression of CEP162 Gene:

CEP162

Evidence on tissue expression from TISSUES for CEP162 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CEP162: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP162 Gene

Orthologs for CEP162 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP162 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1009 33 34
  • 98.17 (n)
dog
(Canis familiaris)
Mammalia KIAA1009 33 34
  • 88.88 (n)
cow
(Bos Taurus)
Mammalia KIAA1009 33 34
  • 87.38 (n)
mouse
(Mus musculus)
Mammalia 4922501C03Rik 33 34
  • 81.29 (n)
Cep162 16
rat
(Rattus norvegicus)
Mammalia RGD1307365 33
  • 80.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia KIAA1009 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1009 33 34
  • 63.7 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1009 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497718 33
  • 62.86 (n)
Str.18747 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-198c19.2 33 34
  • 53.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42699 34
  • 18 (a)
OneToOne
Species where no ortholog for CEP162 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)
  • 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 CEP162 Gene

ENSEMBL:
Gene Tree for CEP162 (if available)
TreeFam:
Gene Tree for CEP162 (if available)

Paralogs for CEP162 Gene

No data available for Paralogs for CEP162 Gene

Variants for CEP162 Gene

Sequence variations from dbSNP and Humsavar for CEP162 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000001373 -- 84,145,626(+) TAATT(C/T)TCCAA intron-variant
rs1000035564 -- 84,147,333(+) GGAGT(C/G/T)GGGGG intron-variant
rs1000049974 -- 84,223,864(+) TTGCA(A/C)CACAG intron-variant, upstream-variant-2KB
rs1000083753 -- 84,140,560(+) TCTTG(C/T)TCTGT intron-variant
rs1000136765 -- 84,195,464(+) CTTTT(C/T)CAACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP162 Gene

Variant ID Type Subtype PubMed ID
esv2657841 CNV deletion 23128226
esv2732368 CNV deletion 23290073
esv3609790 CNV loss 21293372
esv3609791 CNV loss 21293372
nsv1025798 CNV gain 25217958
nsv519202 CNV loss 19592680
nsv5379 CNV insertion 18451855

Variation tolerance for CEP162 Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.92; 79.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP162 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP162

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP162 Gene

Disorders for CEP162 Gene

Relevant External Links for CEP162

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP162

No disorders were found for CEP162 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CEP162 Gene

Publications for CEP162 Gene

  1. CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base. (PMID: 23644468) Wang WJ … Tsou MF (Nature cell biology 2013) 2 3 4 60
  2. QN1/KIAA1009: a new essential protein for chromosome segregation and mitotic spindle assembly. (PMID: 16302001) Leon A … Crisanti P (Oncogene 2006) 3 4 60
  3. Expression, cellular distribution and protein binding of the glioma amplified sequence (GAS41), a highly conserved putative transcription factor. (PMID: 11521196) Munnia A … Meese E (Oncogene 2001) 3 4 60
  4. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for CEP162 Gene

Sources for CEP162 Gene

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