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] See more...

Aliases for CWC25 Gene

Aliases for CWC25 Gene

  • CWC25 Spliceosome Associated Protein Homolog 2 3 5
  • Coiled-Coil Domain-Containing Protein 49 3 4
  • Pre-MRNA-Splicing Factor CWC25 Homolog 3 4
  • CCDC49 3 4
  • CWC25 Spliceosome-Associated Protein Homolog (S. Cerevisiae) 2
  • Spliceosome-Associated Protein Homolog CWC25 4
  • Coiled-Coil Domain Containing 49 2

External Ids for CWC25 Gene

Previous HGNC Symbols for CWC25 Gene

  • CCDC49

Previous GeneCards Identifiers for CWC25 Gene

  • GC17M036957
  • GC17M032753

Summaries for CWC25 Gene

Entrez Gene Summary for CWC25 Gene

  • 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]

GeneCards Summary for CWC25 Gene

CWC25 (CWC25 Spliceosome Associated Protein Homolog) is a Protein Coding gene. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway.

UniProtKB/Swiss-Prot Summary for CWC25 Gene

Additional gene information for CWC25 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CWC25 Gene

Genomics for CWC25 Gene

GeneHancer (GH) Regulatory Elements for CWC25 Gene

Promoters and enhancers for CWC25 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CWC25 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CWC25

Genomic Locations for CWC25 Gene

Genomic Locations for CWC25 Gene
chr17:38,800,434-38,825,355
(GRCh38/hg38)
Size:
24,922 bases
Orientation:
Minus strand
chr17:36,956,687-36,981,734
(GRCh37/hg19)
Size:
25,048 bases
Orientation:
Minus strand

Genomic View for CWC25 Gene

Genes around CWC25 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CWC25 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CWC25 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CWC25 Gene

Proteins for CWC25 Gene

  • Protein details for CWC25 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXE8-CWC25_HUMAN
    Recommended name:
    Pre-mRNA-splicing factor CWC25 homolog
    Protein Accession:
    Q9NXE8
    Secondary Accessions:
    • A0JLM3
    • Q68DK5

    Protein attributes for CWC25 Gene

    Size:
    425 amino acids
    Molecular mass:
    49647 Da
    Quaternary structure:
    • Identified in the spliceosome C complex.

    Three dimensional structures from OCA and Proteopedia for CWC25 Gene

    Alternative splice isoforms for CWC25 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CWC25 Gene

Post-translational modifications for CWC25 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CWC25 Gene

No data available for DME Specific Peptides for CWC25 Gene

Domains & Families for CWC25 Gene

Gene Families for CWC25 Gene

Protein Domains for CWC25 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CWC25 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52308 (B4DJK2_HUMAN)
  • Spliceosome-associated protein homolog CWC25 (CWC25_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NXE8

UniProtKB/Swiss-Prot:

CWC25_HUMAN :
  • Belongs to the CWC25 family.
Family:
  • Belongs to the CWC25 family.
genes like me logo Genes that share domains with CWC25: view

Function for CWC25 Gene

Molecular function for CWC25 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as component of the spliceosome.

Phenotypes From GWAS Catalog for CWC25 Gene

genes like me logo Genes that share phenotypes with CWC25: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CWC25 Gene

Localization for CWC25 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CWC25 Gene

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 CWC25 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CWC25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 29301961
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0016607 nuclear speck IDA --
GO:0071006 U2-type catalytic step 1 spliceosome IDA 29301961
genes like me logo Genes that share ontologies with CWC25: view

Pathways & Interactions for CWC25 Gene

genes like me logo Genes that share pathways with CWC25: view

Pathways by source for CWC25 Gene

Gene Ontology (GO) - Biological Process for CWC25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with CWC25: view

No data available for SIGNOR curated interactions for CWC25 Gene

Drugs & Compounds for CWC25 Gene

No Compound Related Data Available

Transcripts for CWC25 Gene

mRNA/cDNA for CWC25 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CWC25 Gene

No ASD Table

Relevant External Links for CWC25 Gene

GeneLoc Exon Structure for
CWC25

Expression for CWC25 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CWC25 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CWC25 Gene

This gene is overexpressed in Lung (52.4) and Peripheral blood mononuclear cells (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CWC25 Gene



Protein tissue co-expression partners for CWC25 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CWC25

SOURCE GeneReport for Unigene cluster for CWC25 Gene:

Hs.406223

Evidence on tissue expression from TISSUES for CWC25 Gene

  • Liver(4.2)
  • Eye(4.1)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with CWC25: 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 CWC25 Gene

Orthologs for CWC25 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CWC25 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CWC25 30
  • 99.76 (n)
cow
(Bos Taurus)
Mammalia CWC25 30
  • 92.07 (n)
dog
(Canis familiaris)
Mammalia CWC25 30
  • 89.44 (n)
mouse
(Mus musculus)
Mammalia Cwc25 17 30
  • 85.82 (n)
rat
(Rattus norvegicus)
Mammalia Cwc25 30
  • 85.06 (n)
chicken
(Gallus gallus)
Aves CWC25 30
  • 72.48 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cwc25 30
  • 65.09 (n)
Str.17687 30
African clawed frog
(Xenopus laevis)
Amphibia AF549897-prov 30
zebrafish
(Danio rerio)
Actinopterygii cwc25 30
  • 68.62 (n)
Dr.5534 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9008 30
Species where no ortholog for CWC25 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CWC25 Gene

ENSEMBL:
Gene Tree for CWC25 (if available)
TreeFam:
Gene Tree for CWC25 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CWC25: view image

Paralogs for CWC25 Gene

No data available for Paralogs for CWC25 Gene

Variants for CWC25 Gene

Additional dbSNP identifiers (rs#s) for CWC25 Gene

Structural Variations from Database of Genomic Variants (DGV) for CWC25 Gene

Variant ID Type Subtype PubMed ID
esv1005760 CNV deletion 20482838
esv2668927 CNV deletion 23128226
esv2715898 CNV deletion 23290073
esv3554395 CNV deletion 23714750
esv3554396 CNV deletion 23714750
esv3640530 CNV loss 21293372
nsv1146669 OTHER inversion 26484159
nsv1153975 CNV deletion 26484159
nsv512485 CNV loss 21212237
nsv827983 CNV loss 20364138
nsv833438 CNV loss 17160897
nsv833439 CNV loss 17160897

Variation tolerance for CWC25 Gene

Residual Variation Intolerance Score: 88.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CWC25 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CWC25

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CWC25 Gene

Disorders for CWC25 Gene

Additional Disease Information for CWC25

No disorders were found for CWC25 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CWC25 Gene

Publications for CWC25 Gene

  1. Structure of a human catalytic step I spliceosome. (PMID: 29301961) Zhan X … Shi Y (Science (New York, N.Y.) 2018) 3 4 54
  2. The evolutionarily conserved core design of the catalytic activation step of the yeast spliceosome. (PMID: 19941820) Fabrizio P … Lührmann R (Molecular cell 2009) 2 3 54
  3. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 54
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 54
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54

Products for CWC25 Gene

Sources for CWC25 Gene