Aliases for CEP162 Gene

Aliases for CEP162 Gene

  • Centrosomal Protein 162 2 3 5
  • KIAA1009 2 3 4
  • QN1 2 3 4
  • Centrosomal Protein Of 162 KDa 3 4
  • Centrosomal Protein 162kDa 2 3
  • Protein QN1 Homolog 3 4
  • C6orf84 3 4
  • Chromosome 6 Open Reading Frame 84 2
  • CEP162 5
  • 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. Diseases associated with CEP162 include Seckel Syndrome 7 and Orofaciodigital Syndrome Ix. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CEP162 Gene

Genomics for CEP162 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP162 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
GH06J084226 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 633.4 +0.2 188 2.2 CEBPG GATAD2A CTCF PRDM10 ZNF629 TFE3 RFX1 SIX5 IKZF1 ZNF692 CEP162 RIPPLY2 piR-33303-151 MRAP2
GH06J084227 Promoter 0.3 Ensembl 600.7 +1.6 1588 0.2 CEP162 piR-33303-151 MRAP2
GH06J083866 Enhancer 1.4 FANTOM5 Ensembl ENCODE 79.9 +359.8 359788 3.8 ZNF221 PRDM10 ZNF629 IKZF1 ZNF692 ZNF174 JUND ZNF143 NR2C1 ZNF24 CEP162 DOP1A UBE3D RWDD2A PGM3 RIPPLY2 CYB5R4 piR-48364 RF00994-922 MRAP2
GH06J083853 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 51.6 +374.4 374388 1.4 PRDM10 ZNF692 PRDM1 ZIC2 PATZ1 ZNF501 POLR2A EZH2 ZNF600 ZNF341 RIPPLY2 ENSG00000287705 NONHSAG044256.2 CYB5R4 CEP162 DOP1A
GH06J083859 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 31 +367.7 367688 2.8 RNF2 ARHGAP35 SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 CYB5R4 CEP162 RIPPLY2 SNAP91 piR-48364 MRAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP162 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP162

Genomic Locations for CEP162 Gene

Genomic Locations for CEP162 Gene
chr6:84,124,241-84,227,889
(GRCh38/hg38)
Size:
103,649 bases
Orientation:
Minus strand
chr6:84,833,960-84,937,353
(GRCh37/hg19)
Size:
103,394 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).
    SequenceCaution:
    • Sequence=BAA76853.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    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.

    Alternative splice isoforms for CEP162 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP162 Gene

Post-translational modifications for CEP162 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP162 Gene

GenScript: Design optimal peptide antigens:
  • Protein QN1 homolog (QN1_HUMAN)

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP162

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
plasma membrane 1
extracellular 1
endosome 1

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 IEA,IDA 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-plasma membrane 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

mRNA/cDNA for CEP162 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP162

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

No ASD Table

Relevant External Links for CEP162 Gene

GeneLoc Exon Structure for
CEP162

Expression for CEP162 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CEP162 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP162

Evidence on tissue expression from TISSUES for CEP162 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with CEP162: view

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 30 31
  • 98.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA1009 30 31
  • 88.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA1009 30 31
  • 87.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 4922501C03Rik 30 31
  • 81.29 (n)
OneToOne
Cep162 17
Rat
(Rattus norvegicus)
Mammalia RGD1307365 30
  • 80.9 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 70 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia KIAA1009 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA1009 30 31
  • 63.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA1009 31
  • 51 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100497718 30
  • 62.86 (n)
Str.18747 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-198c19.2 30 31
  • 53.96 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG42699 31
  • 18 (a)
OneToOne
Species where no ortholog for CEP162 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CEP162: view image

Paralogs for CEP162 Gene

No data available for Paralogs for CEP162 Gene

Variants for CEP162 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP162 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
709780 Benign: not provided 84,155,364(-) C/A SYNONYMOUS_VARIANT
rs16874323 -. - p.Glu272Glnp.Glu348Gln
rs17790493 -. - p.Cys266Serp.Ser342Cys

Additional dbSNP identifiers (rs#s) for CEP162 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(4) MalaCards diseases for CEP162 Gene - From: DISEASES

Disorder Aliases PubMed IDs
seckel syndrome 7
  • sckl7
orofaciodigital syndrome ix
  • ofd9
cone-rod dystrophy 20
  • cord20
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CEP162: view

No data available for 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
  2. QN1/KIAA1009: a new essential protein for chromosome segregation and mitotic spindle assembly. (PMID: 16302001) Leon A … Crisanti P (Oncogene 2006) 3 4
  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
  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
  5. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3

Products for CEP162 Gene

Sources for CEP162 Gene