Gene Gene information from NCBI Gene database.
Entrez ID 54883
Gene name CWC25 spliceosome associated protein
Gene symbol CWC25
Synonyms (NCBI Gene)
CCDC49
Chromosome 17
Chromosome location 17q12
Summary This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012]
miRNA miRNA information provided by mirtarbase database.
230
miRTarBase ID miRNA Experiments Reference
MIRT041008 hsa-miR-505-3p CLASH 23622248
MIRT632155 hsa-miR-1224-3p HITS-CLIP 23824327
MIRT632154 hsa-miR-150-5p HITS-CLIP 23824327
MIRT632153 hsa-miR-3653-5p HITS-CLIP 23824327
MIRT632152 hsa-miR-6790-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IDA 29301961
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 29301961
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NXE8
Protein name Pre-mRNA-splicing factor CWC25 homolog (Coiled-coil domain-containing protein 49) (Spliceosome-associated protein homolog CWC25)
Protein function Involved in pre-mRNA splicing as component of the spliceosome.
PDB 5YZG , 6ZYM , 8I0W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10197 Cir_N 11 47 N-terminal domain of CBF1 interacting co-repressor CIR Domain
PF12542 CWC25 66 157 Pre-mRNA splicing factor Family
Sequence
MGGGDLNLKKSWHPQTLRNVEKVWKAEQKHEAERKKIEELQRELREERAREEMQRYAEDV
GAVKKKEEKLDWMYQGPGGMVNRDEYLLGRPIDKYVFEKMEEKEAGCSSETGLLPGSIFA
PSGANSLLDMASKIREDPLFIIRKKEEEKKREVLNNP
VKMKKIKELLQMSLEKKEKKKKK
EKKKKHKKHKHRSSSSDRSSSEDEHSAGRSQKKMANSSPVLSKVPGYGLQVRNSDRNQGL
QGPLTAEQKRGHGMKNHSRSRSSSHSPPRHASKKSTREAGSRDRRSRSLGRRSRSPRPSK
LHNSKVNRRETGQTRSPSPKKEVYQRRHAPGYTRKLSAEELERKRQEMMENAKWREEERL
NILKRHAKDEEREQRLEKLDSRDGKFIHRMKLESASTSSLEDRVKRNIYSLQRTSVALEK
NFMKR
Sequence length 425
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations