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Aliases for CEP295 Gene

Aliases for CEP295 Gene

  • Centrosomal Protein 295 2 3 5
  • KIAA1731 2 3 4
  • Centrosomal Protein 295kDa 2 3
  • Centrosomal Protein Of 295 KDa 3
  • Centriolar Protein CEP295 3

External Ids for CEP295 Gene

Previous HGNC Symbols for CEP295 Gene

  • KIAA1731

Summaries for CEP295 Gene

GeneCards Summary for CEP295 Gene

CEP295 (Centrosomal Protein 295) is a Protein Coding gene. An important paralog of this gene is CEP295NL.

UniProtKB/Swiss-Prot for CEP295 Gene

  • Centriole-enriched protein that mediates centriole-to-centrosome conversion at late mitosis, but is dispensable for cartwheel removal or centriole disengagement.

Additional gene information for CEP295 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 CEP295 Gene

Genomics for CEP295 Gene

GeneHancer (GH) Regulatory Elements for CEP295 Gene

Promoters and enhancers for CEP295 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I093660 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 581.7 +0.6 606 2.5 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CEP295 GC11P093662 MED17 ANKRD49 MRE11 SNORA1
GH11I093733 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 46 +76.7 76696 9.9 HNRNPUL1 PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 POLR2B C11orf54 TAF1D MED17 ANKRD49 CEP295 MRE11 SNORA1 ENSG00000255445 SMCO4 ENSG00000284057
GH11I094237 Enhancer 0.8 ENCODE 103.3 +576.2 576191 0.1 ZNF473 ZNF195 BRCA1 GLIS2 HSF1 ZNF416 ZNF350 MCM3 ZNF114 YY2 CEP295 MED17 MRE11 ANKRD49 SNORA1 BUD13P1 ENSG00000270578 KDM4D ENSG00000255893 FUT4
GH11I093196 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 33.9 -464.0 -463969 2.3 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF207 FOS KLF13 SLC36A4 CEP295 MED17 ENSG00000255445 SNORA1 ENSG00000280379
GH11I094542 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 22.5 +884.6 884603 6.8 HDGF SIN3A DMAP1 ZNF2 POLR2B ZNF213 ZNF207 ZNF143 KLF13 SP3 FUT4 PIR62201 GC11P094548 GC11M094542 MED17 CEP295 MRE11 ANKRD49 SNORA1 ENSG00000255666
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEP295 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CEP295 Gene

Genomic Locations for CEP295 Gene
68,720 bases
Plus strand

Genomic View for CEP295 Gene

Genes around CEP295 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP295 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP295 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP295 Gene

Proteins for CEP295 Gene

  • Protein details for CEP295 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Centrosomal protein of 295 kDa
    Protein Accession:
    Secondary Accessions:
    • C9J5H9
    • C9JQY8
    • Q8N7L4
    • Q8N919
    • Q8N9B0
    • Q96LT8

    Protein attributes for CEP295 Gene

    2601 amino acids
    Molecular mass:
    295176 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB21822.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB21822.2; Type=Frameshift; Positions=2016; Evidence={ECO:0000305}; Sequence=BAB71582.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04638.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP295 Gene


neXtProt entry for CEP295 Gene

Post-translational modifications for CEP295 Gene

  • Ubiquitination at posLast=8484, Lys292, Lys533, Lys859, Lys875, posLast=951951, posLast=961961, posLast=10271027, Lys1066, posLast=10931093, Lys1131, posLast=13521352, posLast=15941594, posLast=17121712, and Lys2206

No data available for DME Specific Peptides for CEP295 Gene

Domains & Families for CEP295 Gene

Gene Families for CEP295 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP295 Gene


Suggested Antigen Peptide Sequences for CEP295 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP295: view

No data available for UniProtKB/Swiss-Prot for CEP295 Gene

Function for CEP295 Gene

Molecular function for CEP295 Gene

UniProtKB/Swiss-Prot Function:
Centriole-enriched protein that mediates centriole-to-centrosome conversion at late mitosis, but is dispensable for cartwheel removal or centriole disengagement.

Phenotypes From GWAS Catalog for CEP295 Gene

Animal Model Products

miRNA for CEP295 Gene

miRTarBase miRNAs that target CEP295

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP295 Gene

Localization for CEP295 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP295 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Associates with both of the converted centrioles during G1 but becomes more enriched at the newly formed daughter (or unconverted) centrioles during S, G2, and early M phases. Colocalizes with SASS6 and CEP250 proteins (PubMed:25131205). Colocalizes with centriolar acetylated tubulin (PubMed:20844083). {ECO:0000269 PubMed:20844083, ECO:0000269 PubMed:25131205}.

Subcellular locations from

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 CEP295 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
plasma membrane 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP295 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20844083
GO:0005813 centrosome IDA,IEA 20844083
GO:0005814 centriole IDA,IEA 25131205
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CEP295: view

Pathways & Interactions for CEP295 Gene

SuperPathways for CEP295 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP295 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1902117 positive regulation of organelle assembly IDA 25131205
genes like me logo Genes that share ontologies with CEP295: view

No data available for Pathways by source and SIGNOR curated interactions for CEP295 Gene

Drugs & Compounds for CEP295 Gene

No Compound Related Data Available

Transcripts for CEP295 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP295 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b ^
SP2: -
SP6: - - -

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24

Relevant External Links for CEP295 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CEP295 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP295 Gene

Protein differential expression in normal tissues from HIPED for CEP295 Gene

This gene is overexpressed in Pancreatic juice (31.7), Liver (25.8), and Heart (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CEP295 Gene

Protein tissue co-expression partners for CEP295 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP295 Gene:


Evidence on tissue expression from TISSUES for CEP295 Gene

  • Nervous system(4.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with CEP295: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP295 Gene

Orthologs for CEP295 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP295 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KIAA1731 33 34
  • 99.27 (n)
(Bos Taurus)
Mammalia KIAA1731 33 34
  • 82.2 (n)
(Mus musculus)
Mammalia 5830418K08Rik 33 34
  • 74.34 (n)
Cep295 16
(Rattus norvegicus)
Mammalia RGD1311723 33
  • 74.12 (n)
(Canis familiaris)
Mammalia KIAA1731 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia KIAA1731 34
  • 45 (a)
(Monodelphis domestica)
Mammalia KIAA1731 34
  • 20 (a)
(Gallus gallus)
Aves -- 34
  • 54 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 43 (a)
(Danio rerio)
Actinopterygii KIAA1731 34
  • 43 (a)
Species where no ortholog for CEP295 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP295 Gene

Gene Tree for CEP295 (if available)
Gene Tree for CEP295 (if available)

Paralogs for CEP295 Gene

Paralogs for CEP295 Gene

genes like me logo Genes that share paralogs with CEP295: view

Variants for CEP295 Gene

Sequence variations from dbSNP and Humsavar for CEP295 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000020156 -- 93,675,943(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000071930 -- 93,719,255(+) T/C intron_variant
rs1000088376 -- 93,725,454(+) C/A intron_variant
rs1000127707 -- 93,700,528(+) T/C intron_variant
rs1000242835 -- 93,700,336(+) AAAA/AA intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CEP295 Gene

Variant ID Type Subtype PubMed ID
nsv972062 CNV duplication 23825009
nsv832232 CNV gain 17160897
nsv819292 CNV gain 19587683
nsv527168 CNV loss 19592680
nsv525639 CNV loss 19592680
nsv441 CNV insertion 18451855
nsv1113424 CNV deletion 24896259
esv3627294 CNV gain 21293372

Variation tolerance for CEP295 Gene

Gene Damage Index Score: 11.23; 92.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP295 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP295 Gene

Disorders for CEP295 Gene

Additional Disease Information for CEP295

No disorders were found for CEP295 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CEP295 Gene

Publications for CEP295 Gene

  1. Stabilization of cartwheel-less centrioles for duplication requires CEP295-mediated centriole-to-centrosome conversion. (PMID: 25131205) Izquierdo D … Tsou MF (Cell reports 2014) 2 3 4 58
  2. Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. (PMID: 20844083) Knorz VJ … Hearn T (Molecular biology of the cell 2010) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CEP295 Gene

Sources for CEP295 Gene

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