Gene Gene information from NCBI Gene database.
Entrez ID 51550
Gene name Cyclin dependent kinase 2 interacting protein
Gene symbol CINP
Synonyms (NCBI Gene)
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Chromosome 14
Chromosome location 14q32.31
Summary The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1060499740 A>C Likely-pathogenic Stop lost, terminator codon variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
166
miRTarBase ID miRNA Experiments Reference
MIRT629245 hsa-miR-130a-3p HITS-CLIP 23824327
MIRT629244 hsa-miR-130b-3p HITS-CLIP 23824327
MIRT629243 hsa-miR-301a-3p HITS-CLIP 23824327
MIRT629242 hsa-miR-301b-3p HITS-CLIP 23824327
MIRT629241 hsa-miR-3666 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 19889979, 21131973, 25416956, 28514442, 31515488, 32296183, 33961781, 35354024, 38554706
GO:0005634 Component Nucleus IEA
GO:0006260 Process DNA replication IEA
GO:0006281 Process DNA repair IEA
GO:0006974 Process DNA damage response IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613362 23789 ENSG00000100865
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BW66
Protein name Cyclin-dependent kinase 2-interacting protein (CDK2-interacting protein)
Protein function Component of the DNA replication complex, which interacts with two kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication (PubMed:16082200, PubMed:19889979). Reg
PDB 8CIH , 8RHN
Family and domains
Sequence
MEAKTLGTVTPRKPVLSVSARKIKDNAADWHNLILKWETLNDAGFTTANNIANLKISLLN
KDKIELDSSSPASKENEEKVCLEYNEELEKLCEELQATLDGLTKIQVKMEKLSSTTKGIC
ELENYHYGEESKRPPLFHTWPTTHFYEVSHKLLEMYRKELLLKRTVAKELAHTGDPDLTL
SYLSMWLHQPYVESDSRLHLESMLLETGHRAL
Sequence length 212
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic rs1060499740 RCV000454213
Microcephaly Likely pathogenic rs1060499740 RCV000454213
Seizure Likely pathogenic rs1060499740 RCV000454213
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Small Cell Lung Carcinoma Associate 37987107