Gene Gene information from NCBI Gene database.
Entrez ID 79598
Gene name Centrosomal protein 97
Gene symbol CEP97
Synonyms (NCBI Gene)
2810403B08RikLRRIQ2
Chromosome 3
Chromosome location 3q12.3
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1060499739 A>G Likely-pathogenic Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
524
miRTarBase ID miRNA Experiments Reference
MIRT030967 hsa-miR-21-5p Microarray 18591254
MIRT048944 hsa-miR-92a-3p CLASH 23622248
MIRT614158 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT614153 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT614148 hsa-miR-1277-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17719545, 18694559, 19460342, 21620453, 22441691, 24421332, 24981860, 26496610, 26638075, 27173435, 30375385, 33961781, 35709258
GO:0005516 Function Calmodulin binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
GO:0005813 Component Centrosome IDA 21399614, 30375385
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615864 26244 ENSG00000182504
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IW35
Protein name Centrosomal protein of 97 kDa (Cep97) (Leucine-rich repeat and IQ domain-containing protein 2)
Protein function Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation (PubMed:17719545, PubMed:30375385). Required for recruitment of CCP110 to the centrosome (PubMed:177
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14580 LRR_9 100 259 Repeat
Sequence
MAVARVDAALPPGEGSVVNWSGQGLQKLGPNLPCEADIHTLILDKNQIIKLENLEKCKRL
IQLSVANNRLVRMMGVAKLTLLRVLNLPHNSIGCVEGLKELVHLEWLNLAGNNLKAMEQI
NSCTALQHLDLSDNNISQIGDLSKLVSLKTLLLHGNIITSLRMAPAYLPRSLAILSLAEN
EIRDLNEISFLASLTELEQLSIMNNPCVMATPSIPGFDYRPYIVSWCLNLRVLDGYVISQ
KESLKAEWLYSQGKGRAYR
PGQHIQLVQYLATVCPLTSTLGLQTAEDAKLEKILSKQRFH
QRQLMNQSQNEELSPLVPVETRASLIPEHSSPVQDCQISQESEPVIQVNSWVGINSNDDQ
LFAVKNNFPASVHTTRYSRNDLHLEDIQTDEDKLNCSLLSSESTFMPVASGLSPLSPTVE
LRLQGINLGLEDDGVADESVKGLESQVLDKEEEQPLWAANENSVQMMRSEINTEVNEKAG
LLPCPEPTIISAILKDDNHSLTFFPESTEQKQSDIKKPENTQPENKETISQATSEKLPMI
LTQRSVALGQDKVALQKLNDAATKLQACWRGFYARNYNPQAKDVRYEIRLRRMQEHIVCL
TDEIRRLRKERDEERIKKFVQEEAFRFLWNQVRSLQVWQQTVDQRLSSWHTDVPPISSTL
VPSKHPLFTQSQESSCDQNADWFIASDVAPQEKSLPEFPDSGFHSSLTEQVHSLQHSLDF
EKSSTEGSESSIMGNSIDTVRYGKESDLGDVSEEHGEWNKESSNNEQDNSLLEQYLTSVQ
QLEDADERTNFDTETRDSKLHIACFPVQLDTLSDGASVDESHGISPPLQGEISQTQENSK
LNAEVQGQQPECDSTFQLLHVGVTV
Sequence length 865
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Anchoring of the basal body to the plasma membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic rs1060499739 RCV000454159
Intellectual disability Likely pathogenic rs1060499739 RCV000454159