Gene Gene information from NCBI Gene database.
Entrez ID 51362
Gene name Cell division cycle 40
Gene symbol CDC40
Synonyms (NCBI Gene)
EHB3PCH15PRP17PRPF17
Chromosome 6
Chromosome location 6q21
Summary Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which fu
miRNA miRNA information provided by mirtarbase database.
590
miRTarBase ID miRNA Experiments Reference
MIRT020923 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT877488 hsa-miR-106a CLIP-seq
MIRT877489 hsa-miR-106b CLIP-seq
MIRT877490 hsa-miR-1208 CLIP-seq
MIRT877491 hsa-miR-122 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 28076346
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome IMP 33220177
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605585 17350 ENSG00000168438
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60508
Protein name Pre-mRNA-processing factor 17 (Cell division cycle 40 homolog) (EH-binding protein 3) (Ehb3) (PRP17 homolog) (hPRP17)
Protein function Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:33220177). Plays an important role in embryonic brain development; this function does not require proline isomerization (PubMed:33220177). {ECO:0000269|PubMed:28076
PDB 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF4 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6ZYM , 7A5P , 7AAV , 7ABI , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0T , 8I0U , 8I0V , 8I0W , 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 278 317 WD domain, G-beta repeat Repeat
PF00400 WD40 322 360 WD domain, G-beta repeat Repeat
PF00400 WD40 408 446 WD domain, G-beta repeat Repeat
PF00400 WD40 496 536 WD domain, G-beta repeat Repeat
PF00400 WD40 540 579 WD domain, G-beta repeat Repeat
Sequence
MSAAIAALAASYGSGSGSESDSDSESSRCPLPAADSLMHLTKSPSSKPSLAVAVDSAPEV
AVKEDLETGVHLDPAVKEVQYNPTYETMFAPEFGPENPFRTQQMAAPRNMLSGYAEPAHI
NDFMFEQQRRTFATYGYALDPSLDNHQVSAKYIGSVEEAEKNQGLTVFETGQKKTEKRKK
FKENDASNIDGFLGPWAKYVDEKDVAKPSEEEQKELDEITAKRQKKGKQEEEKPGEEKTI
LHVKEMYDYQGRSYLHIPQDVGVNLRSTMPPEKCYLPKKQIHVWSGHTKGVSAVRLFPLS
GHLLLSCSMDCKIKLWE
VYGERRCLRTFIGHSKAVRDICFNTAGTQFLSAAYDRYLKLWD
TETGQCISRFTNRKVPYCVKFNPDEDKQNLFVAGMSDKKIVQWDIRSGEIVQEYDRHLGA
VNTIVFVDENRRFVSTSDDKSLRVWE
WDIPVDFKYIAEPSMHSMPAVTLSPNGKWLACQS
MDNQILIFGAQNRFRLNKKKIFKGHMVAGYACQVDFSPDMSYVISGDGNGKLNIWDWKTT
KLYSRFKAHDKVCIGAVWHPHETSKVITCGWDGLIKLWD
Sequence length 579
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital pontocerebellar hypoplasia Likely pathogenic; Pathogenic rs779945821 RCV001849511
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar hypoplasia, type 15 Likely pathogenic; Pathogenic rs779945821 RCV001375917
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27349221 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 27349221
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27349221
★☆☆☆☆
Found in Text Mining only
MYELODYSPLASTIC SYNDROME Myelodysplastic Syndrome BEFREE 27633496
★☆☆☆☆
Found in Text Mining only