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Aliases for CEP97 Gene

Aliases for CEP97 Gene

  • Centrosomal Protein 97 2 3 5
  • Leucine-Rich Repeat And IQ Domain-Containing Protein 2 3 4
  • Leucine-Rich Repeats And IQ Motif Containing 2 2 3
  • LRRIQ2 3 4
  • Centrosomal Protein Of 97 KDa 3
  • Centrosomal Protein 97kDa 2
  • 2810403B08Rik 3
  • Cep97 4

External Ids for CEP97 Gene

Previous HGNC Symbols for CEP97 Gene

  • LRRIQ2

Previous GeneCards Identifiers for CEP97 Gene

  • GC03P102927
  • GC03P101442
  • GC03P098812

Summaries for CEP97 Gene

GeneCards Summary for CEP97 Gene

CEP97 (Centrosomal Protein 97) is a Protein Coding gene. Diseases associated with CEP97 include Spinocerebellar Ataxia 11 and Townes-Brocks Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot for CEP97 Gene

  • Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome.

Gene Wiki entry for CEP97 Gene

Additional gene information for CEP97 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP97 Gene

Genomics for CEP97 Gene

GeneHancer (GH) Regulatory Elements for CEP97 Gene

Promoters and enhancers for CEP97 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
GH03I101723 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.7 +1.4 1369 3 PKNOX1 ATF1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 NCOA2 ETS1 CEP97 ZBTB11-AS1 NXPE3 ZNF90P1
GH03I101674 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.8 -47.2 -47205 3.7 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YY1 E2F8 ZBTB11 ZBTB11-AS1 NXPE3 SENP7 CEP97
GH03I101778 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.2 +56.1 56101 3.4 HDGF PKNOX1 ATF1 ARID4B SIN3A ZBTB7B ZNF48 GLIS2 ZNF207 ZNF143 NXPE3 CEP97 RPL24 SENP7 ENSG00000249474
GH03I101800 Enhancer 0.5 dbSUPER 10.9 +77.6 77607 1.3 FOXA2 FOXA3 CBFA2T3 RARA NXPE3 CEP97 RPL24 ENSG00000249474
GH03I101169 Enhancer 0.6 ENCODE 7.2 -553.5 -553510 1.4 FOSL1 TCF12 ZFHX2 TAL1 CBFA2T3 CBFA2T2 TRIM24 EGR2 RNU6-865P CEP97 ACTR3P3 GC03P101264
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEP97 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEP97 gene promoter:

Genomic Locations for CEP97 Gene

Genomic Locations for CEP97 Gene
chr3:101,723,925-101,770,562
(GRCh38/hg38)
Size:
46,638 bases
Orientation:
Plus strand
chr3:101,442,769-101,489,406
(GRCh37/hg19)

Genomic View for CEP97 Gene

Genes around CEP97 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP97 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP97 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP97 Gene

Proteins for CEP97 Gene

  • Protein details for CEP97 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IW35-CEP97_HUMAN
    Recommended name:
    Centrosomal protein of 97 kDa
    Protein Accession:
    Q8IW35
    Secondary Accessions:
    • B5MDY8
    • Q8NA71
    • Q9H5T9

    Protein attributes for CEP97 Gene

    Size:
    865 amino acids
    Molecular mass:
    96981 Da
    Quaternary structure:
    • Interacts with CALM1, CEP76, CCP110, KIF24, TALPID3. Via its interaction with CCP110, may indirectly interact with HERC2 and NEURL4.
    SequenceCaution:
    • Sequence=BAB15531.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04055.1; Type=Frameshift; Positions=303; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP97 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP97 Gene

Post-translational modifications for CEP97 Gene

No Post-translational modifications

Other Protein References for CEP97 Gene

No data available for DME Specific Peptides for CEP97 Gene

Domains & Families for CEP97 Gene

Gene Families for CEP97 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP97 Gene

Suggested Antigen Peptide Sequences for CEP97 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP97: view

No data available for UniProtKB/Swiss-Prot for CEP97 Gene

Function for CEP97 Gene

Molecular function for CEP97 Gene

UniProtKB/Swiss-Prot Function:
Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome.

Gene Ontology (GO) - Molecular Function for CEP97 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17719545
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with CEP97: view

Phenotypes for CEP97 Gene

MGI mutant phenotypes for CEP97:
inferred from 1 alleles
GenomeRNAi human phenotypes for CEP97:
genes like me logo Genes that share phenotypes with CEP97: view

Animal Models for CEP97 Gene

MGI Knock Outs for CEP97:

Animal Model Products

miRNA for CEP97 Gene

miRTarBase miRNAs that target CEP97

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CEP97 Gene

Localization for CEP97 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP97 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

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 CEP97 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubule organizing center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP97 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol TAS,IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CEP97: view

Pathways & Interactions for CEP97 Gene

genes like me logo Genes that share pathways with CEP97: view

Pathways by source for CEP97 Gene

Gene Ontology (GO) - Biological Process for CEP97 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0097711 ciliary basal body-plasma membrane docking TAS --
GO:1901673 regulation of mitotic spindle assembly IMP 17719545
GO:1902018 negative regulation of cilium assembly IEA,IMP 17719545
genes like me logo Genes that share ontologies with CEP97: view

No data available for SIGNOR curated interactions for CEP97 Gene

Drugs & Compounds for CEP97 Gene

No Compound Related Data Available

Transcripts for CEP97 Gene

Unigene Clusters for CEP97 Gene

Centrosomal protein 97kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP97 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: -
SP2: - -

Relevant External Links for CEP97 Gene

GeneLoc Exon Structure for
CEP97
ECgene alternative splicing isoforms for
CEP97

Expression for CEP97 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP97 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP97 Gene

This gene is overexpressed in Heart (49.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP97 Gene



Protein tissue co-expression partners for CEP97 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CEP97 Gene:

CEP97

SOURCE GeneReport for Unigene cluster for CEP97 Gene:

Hs.444135

Evidence on tissue expression from TISSUES for CEP97 Gene

  • Lung(4.2)
  • Skin(4)
genes like me logo Genes that share expression patterns with CEP97: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP97 Gene

Orthologs for CEP97 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP97 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP97 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia CEP97 33 34
  • 89.62 (n)
cow
(Bos Taurus)
Mammalia CEP97 33 34
  • 87.56 (n)
rat
(Rattus norvegicus)
Mammalia Cep97 33
  • 81.48 (n)
mouse
(Mus musculus)
Mammalia Cep97 33 16 34
  • 80.67 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP97 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP97 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP97 33 34
  • 65.6 (n)
lizard
(Anolis carolinensis)
Reptilia CEP97 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep97 33
  • 62.42 (n)
Str.20324 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7406 33
zebrafish
(Danio rerio)
Actinopterygii cep97 33 34
  • 56.31 (n)
zgc63856 33
fruit fly
(Drosophila melanogaster)
Insecta Cep97 34
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R02F11.4 34
  • 20 (a)
OneToOne
Species where no ortholog for CEP97 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)
  • 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)

Evolution for CEP97 Gene

ENSEMBL:
Gene Tree for CEP97 (if available)
TreeFam:
Gene Tree for CEP97 (if available)

Paralogs for CEP97 Gene

No data available for Paralogs for CEP97 Gene

Variants for CEP97 Gene

Sequence variations from dbSNP and Humsavar for CEP97 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1060499739 likely-pathogenic, Global developmental delay, Intellectual disability 101,757,754(+) A/G coding_sequence_variant, intron_variant, missense_variant
rs1000002030 -- 101,748,255(+) G/A intron_variant
rs1000127307 -- 101,754,595(+) C/G intron_variant
rs1000145083 -- 101,754,378(+) TT/TTTT intron_variant
rs1000169091 -- 101,761,330(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CEP97 Gene

Variant ID Type Subtype PubMed ID
nsv1109536 CNV deletion 24896259
esv2725709 CNV deletion 23290073
esv2725708 CNV deletion 23290073
esv2350180 CNV deletion 18987734

Variation tolerance for CEP97 Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP97 Gene

Human Gene Mutation Database (HGMD)
CEP97
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP97

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP97 Gene

Disorders for CEP97 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CEP97 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 11
  • sca11
townes-brocks syndrome
  • anus, imperforate, with hand, foot and ear anomalies
- elite association - COSMIC cancer census association via MalaCards
Search CEP97 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CEP97

genes like me logo Genes that share disorders with CEP97: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP97 Gene

Publications for CEP97 Gene

  1. Cep97 and CP110 suppress a cilia assembly program. (PMID: 17719545) Spektor A … Dynlacht BD (Cell 2007) 2 3 4 58
  2. The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly. (PMID: 24421332) Kobayashi T … Dynlacht BD (The Journal of cell biology 2014) 3 4 58
  3. Interaction proteomics identify NEURL4 and the HECT E3 ligase HERC2 as novel modulators of centrosome architecture. (PMID: 22261722) Al-Hakim AK … Pelletier L (Molecular & cellular proteomics : MCP 2012) 3 4 58
  4. Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis. (PMID: 21620453) Kobayashi T … Dynlacht BD (Cell 2011) 3 4 58
  5. Cep76, a centrosomal protein that specifically restrains centriole reduplication. (PMID: 19460342) Tsang WY … Dynlacht BD (Developmental cell 2009) 3 4 58

Products for CEP97 Gene

Sources for CEP97 Gene

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