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Aliases for CWC22 Gene

Aliases for CWC22 Gene

  • CWC22 Spliceosome Associated Protein Homolog 2 3 5
  • CWC22 Homolog, Spliceosome-Associated Protein 2 3
  • Functional Spliceosome-Associated Protein B 2 3
  • CWC22 Spliceosome-Associated Protein 2 3
  • Nucampholin Homolog 3 4
  • FSAPb 3 4
  • NCM 3 4
  • CWC22 Spliceosome-Associated Protein Homolog (S. Cerevisiae) 2
  • Pre-MRNA-Splicing Factor CWC22 Homolog 3
  • KIAA1604 4
  • EIF4GL 3

External Ids for CWC22 Gene

Previous GeneCards Identifiers for CWC22 Gene

  • GC02M180518
  • GC02M180809
  • GC02M172661

Summaries for CWC22 Gene

GeneCards Summary for CWC22 Gene

CWC22 (CWC22 Spliceosome Associated Protein Homolog) is a Protein Coding gene. Diseases associated with CWC22 include Melanomatosis and Meningeal Melanocytoma. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include RNA binding and binding.

UniProtKB/Swiss-Prot for CWC22 Gene

  • Required for pre-mRNA splicing and for exon-junction complex (EJC) assembly. Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay.

Additional gene information for CWC22 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CWC22 Gene

Genomics for CWC22 Gene

Regulatory Elements for CWC22 Gene

Enhancers for CWC22 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H180978 1.1 ENCODE 23.9 -973.6 -973564 4 ARNT ZFP64 SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 ZNF207 SP5 ZNF592 CWC22 UBE2E3 LOC105373772 LINC01934
GH02H180033 1.1 Ensembl ENCODE 14.8 -27.1 -27127 0 INSM2 ZNF2 ZNF366 SCRT2 USF2 REST ZNF843 ZNF518A TFDP1 NFIC CWC22 LOC105373767
GH02H179262 1.2 ENCODE dbSUPER 13.2 +743.2 743171 3 ARID4B SIN3A DMAP1 GTF3C2 SP3 SP5 MXD4 REST MIER2 KAT8 CWC22 SESTD1 GC02P179234
GH02H180005 1.4 FANTOM5 ENCODE 6.1 +0.5 461 2 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ZNF207 ZNF143 SP3 ZHX2 CWC22 GC02P179935
GH02H180015 0.7 ENCODE 6.1 -9.6 -9605 2 HLF ZNF175 CEBPB CEBPG GABPA FOSL1 ZNF589 JUND FOS ZNF584 CWC22 LOC105373767
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CWC22 on UCSC Golden Path with GeneCards custom track

Promoters for CWC22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127098 397 1401 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ZNF207 ZNF143 ZHX2 MXD4

Genomic Location for CWC22 Gene

Chromosome:
2
Start:
179,944,876 bp from pter
End:
180,007,297 bp from pter
Size:
62,422 bases
Orientation:
Minus strand

Genomic View for CWC22 Gene

Genes around CWC22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CWC22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CWC22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CWC22 Gene

Proteins for CWC22 Gene

  • Protein details for CWC22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCG8-CWC22_HUMAN
    Recommended name:
    Pre-mRNA-splicing factor CWC22 homolog
    Protein Accession:
    Q9HCG8
    Secondary Accessions:
    • Q05DC2
    • Q4G135
    • Q52LF0
    • Q6PEX2
    • Q7Z6I0
    • Q9H5L3
    • Q9H6Q6

    Protein attributes for CWC22 Gene

    Size:
    908 amino acids
    Molecular mass:
    105466 Da
    Quaternary structure:
    • Component of the spliceosome C complex. Interacts with EIF4A3 and PRPF19 in an RNA-independent manner. Direct interaction with EIF4A3 is mediated by the MIF4G domain. Full interaction with EIF4A3 occurs only when EIF4A3 is not part of the EJC and prevents EIF4A3 binding to RNA.
    SequenceCaution:
    • Sequence=AAH16651.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH31216.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH57826.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB13430.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15197.1; Type=Frameshift; Positions=555; Evidence={ECO:0000305}; Sequence=BAB15612.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CWC22 Gene

neXtProt entry for CWC22 Gene

Post-translational modifications for CWC22 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CWC22 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CWC22 Gene

Domains & Families for CWC22 Gene

Gene Families for CWC22 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CWC22 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HCG8

UniProtKB/Swiss-Prot:

CWC22_HUMAN :
  • Belongs to the CWC22 family.
Family:
  • Belongs to the CWC22 family.
genes like me logo Genes that share domains with CWC22: view

Function for CWC22 Gene

Molecular function for CWC22 Gene

UniProtKB/Swiss-Prot Function:
Required for pre-mRNA splicing and for exon-junction complex (EJC) assembly. Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay.

Phenotypes From GWAS Catalog for CWC22 Gene

Gene Ontology (GO) - Molecular Function for CWC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IEA 11991638
GO:0005515 protein binding IPI 22365833
genes like me logo Genes that share ontologies with CWC22: view
genes like me logo Genes that share phenotypes with CWC22: view

Animal Model Products

CRISPR Products

miRNA for CWC22 Gene

miRTarBase miRNAs that target CWC22

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CWC22
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CWC22 Gene

Localization for CWC22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CWC22 Gene

Nucleus. Nucleus speckle. Note=Concentrates around speckles, which are sites of pre-mRNA synthesis and processing, where it colocalizes with EJC core proteins. {ECO:0000269 PubMed:22961380}.

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 CWC22 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CWC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA,IEA 11991638
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck IEA,IDA 22961380
genes like me logo Genes that share ontologies with CWC22: view

Pathways & Interactions for CWC22 Gene

genes like me logo Genes that share pathways with CWC22: view

Pathways by source for CWC22 Gene

Gene Ontology (GO) - Biological Process for CWC22 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 --
GO:0048024 regulation of mRNA splicing, via spliceosome IC 11991638
genes like me logo Genes that share ontologies with CWC22: view

No data available for SIGNOR curated interactions for CWC22 Gene

Drugs & Compounds for CWC22 Gene

No Compound Related Data Available

Transcripts for CWC22 Gene

mRNA/cDNA for CWC22 Gene

Unigene Clusters for CWC22 Gene

CWC22 spliceosome-associated protein homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CWC22
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CWC22 Gene

No ASD Table

Relevant External Links for CWC22 Gene

GeneLoc Exon Structure for
CWC22
ECgene alternative splicing isoforms for
CWC22

Expression for CWC22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CWC22 Gene

Protein differential expression in normal tissues from HIPED for CWC22 Gene

This gene is overexpressed in Monocytes (13.5), CD8 Tcells (12.2), and Peripheral blood mononuclear cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CWC22 Gene



Protein tissue co-expression partners for CWC22 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CWC22 Gene:

CWC22

SOURCE GeneReport for Unigene cluster for CWC22 Gene:

Hs.311363

Evidence on tissue expression from TISSUES for CWC22 Gene

  • Nervous system(4.7)
  • Eye(4.2)
  • Muscle(2.5)
  • Bone(2.4)
  • Heart(2.4)
  • Skin(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with CWC22: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CWC22 Gene

Orthologs for CWC22 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CWC22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CWC22 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia CWC22 33 34
  • 92.25 (n)
cow
(Bos Taurus)
Mammalia CWC22 33 34
  • 90.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm13691 34
  • 85 (a)
OneToMany
Gm13693 34
  • 85 (a)
OneToMany
Gm13694 34
  • 85 (a)
OneToMany
Gm13695 34
  • 85 (a)
OneToMany
Gm13696 34
  • 85 (a)
OneToMany
Gm13697 34
  • 85 (a)
OneToMany
Gm13698 34
  • 85 (a)
OneToMany
Cwc22 33 16 34
  • 81.37 (n)
rat
(Rattus norvegicus)
Mammalia Cwc22 33
  • 81.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CWC22 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CWC22 33 34
  • 73 (n)
lizard
(Anolis carolinensis)
Reptilia CWC22 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cwc22 33
  • 70.1 (n)
Str.1664 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14416 33
zebrafish
(Danio rerio)
Actinopterygii cwc22 33 34
  • 64.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007874 33
  • 61.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta ncm 34
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea let-858 34
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CWC22 33 34
  • 46.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14025g 33
  • 43.07 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL355W 33
  • 43 (n)
soybean
(Glycine max)
eudicotyledons Gma.8911 33
rice
(Oryza sativa)
Liliopsida Os.21031 33
wheat
(Triticum aestivum)
Liliopsida Ta.28538 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cwf22 33
  • 59.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10626 34
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7815 33
Species where no ortholog for CWC22 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CWC22 Gene

ENSEMBL:
Gene Tree for CWC22 (if available)
TreeFam:
Gene Tree for CWC22 (if available)

Paralogs for CWC22 Gene

No data available for Paralogs for CWC22 Gene

Variants for CWC22 Gene

Sequence variations from dbSNP and Humsavar for CWC22 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000009078 -- 179,995,176(+) ACAGA(A/C)TAGTC intron-variant
rs1000061373 -- 179,994,991(+) CGGGC(A/G)CCTGT intron-variant
rs1000090089 -- 179,960,808(+) ATGTA(C/T)ATCAC intron-variant
rs1000094095 -- 180,004,059(+) TGCTC(A/C)GATAA intron-variant
rs1000127240 -- 179,975,115(+) CTCAG(A/G)TTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CWC22 Gene

Variant ID Type Subtype PubMed ID
nsv1006598 CNV gain 25217958
nsv521134 CNV gain 19592680
nsv834473 CNV gain 17160897

Variation tolerance for CWC22 Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.67; 89.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CWC22 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CWC22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CWC22 Gene

Disorders for CWC22 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CWC22 Gene - From: DISEASES

Disorder Aliases PubMed IDs
melanomatosis
meningeal melanocytoma
  • leptomeningeal melanocytoma
meningeal melanomatosis
  • leptomeningeal melanomatosis
central nervous system melanocytic neoplasm
  • central nervous system primary melanocytic lesion
- elite association - COSMIC cancer census association via MalaCards
Search CWC22 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CWC22

Genetic Association Database (GAD)
CWC22
Human Genome Epidemiology (HuGE) Navigator
CWC22
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CWC22
genes like me logo Genes that share disorders with CWC22: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CWC22 Gene

Publications for CWC22 Gene

  1. Human spliceosomal protein CWC22 plays a role in coupling splicing to exon junction complex deposition and nonsense-mediated decay. (PMID: 23236153) Alexandrov A … Steitz JA (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3 4 60
  2. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 45 60
  3. Human CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly. (PMID: 22961380) Barbosa I … Le Hir H (Nature structural & molecular biology 2012) 3 4 60
  4. CWC22 connects pre-mRNA splicing and exon junction complex assembly. (PMID: 22959432) Steckelberg AL … Gehring NH (Cell reports 2012) 3 4 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for CWC22 Gene

Sources for CWC22 Gene

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