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Aliases for CWC22 Gene

Aliases for CWC22 Gene

  • CWC22 Homolog, Spliceosome-Associated Protein 2 3 5
  • Functional Spliceosome-Associated Protein B 2 3
  • Nucampholin Homolog 3 4
  • FSAPb 3 4
  • NCM 3 4
  • CWC22 Spliceosome-Associated Protein Homolog (S. Cerevisiae) 2
  • CWC22 Spliceosome-Associated Protein Homolog 3
  • CWC22 Spliceosome-Associated Protein 2
  • 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 Homolog, Spliceosome-Associated Protein) is a Protein Coding gene. Diseases associated with CWC22 include melanomatosis and meningeal melanomatosis. 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.

No data available for Entrez Gene 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

Promoters for CWC22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CWC22 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for CWC22 Gene at MOPED

Post-translational modifications for CWC22 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CWC22 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CWC22 Gene

Domains & Families for CWC22 Gene

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 :
  • Contains 1 MI domain.
  • Belongs to the CWC22 family.
Domain:
  • Contains 1 MI domain.
  • Contains 1 MIF4G domain.
Family:
  • Belongs to the CWC22 family.
genes like me logo Genes that share domains with CWC22: view

No data available for Gene Families for CWC22 Gene

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CWC22 Gene COMPARTMENTS Subcellular localization image for CWC22 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 3
extracellular 1

Gene Ontology (GO) - Cellular Components for CWC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0071006 U2-type catalytic step 1 spliceosome IBA --
genes like me logo Genes that share ontologies with CWC22: view

Pathways & Interactions for CWC22 Gene

SuperPathways for CWC22 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CWC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 Pathways by source and 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:

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 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, MOPED, and MaxQB for CWC22 Gene



SOURCE GeneReport for Unigene cluster for CWC22 Gene Hs.311363

genes like me logo Genes that share expression patterns with CWC22: view

Protein tissue co-expression partners for CWC22 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia CWC22 35
  • 90.03 (n)
  • 91.43 (a)
CWC22 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CWC22 35
  • 92.25 (n)
  • 93.38 (a)
CWC22 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cwc22 35
  • 81.37 (n)
  • 83.22 (a)
Cwc22 16
Cwc22 36
  • 84 (a)
OneToMany
Gm13691 36
  • 85 (a)
OneToMany
Gm13693 36
  • 85 (a)
OneToMany
Gm13694 36
  • 85 (a)
OneToMany
Gm13695 36
  • 85 (a)
OneToMany
Gm13696 36
  • 85 (a)
OneToMany
Gm13697 36
  • 85 (a)
OneToMany
Gm13698 36
  • 85 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CWC22 35
  • 99.49 (n)
  • 99.45 (a)
CWC22 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cwc22 35
  • 81.32 (n)
  • 83.57 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CWC22 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CWC22 35
  • 73 (n)
  • 75.19 (a)
CWC22 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CWC22 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cwc22 35
  • 70.1 (n)
  • 77.14 (a)
Str.1664 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14416 35
zebrafish
(Danio rerio)
Actinopterygii cwc22 35
  • 64.12 (n)
  • 70.15 (a)
cwc22 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007874 35
  • 61.9 (n)
  • 66.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta ncm 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea let-858 36
  • 42 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL355W 35
  • 43 (n)
  • 32.62 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14025g 35
  • 43.07 (n)
  • 28.57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CWC22 35
  • 46.33 (n)
  • 32.84 (a)
CWC22 36
  • 29 (a)
OneToOne
soybean
(Glycine max)
eudicotyledons Gma.8911 35
rice
(Oryza sativa)
Liliopsida Os.21031 35
wheat
(Triticum aestivum)
Liliopsida Ta.28538 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7815 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cwf22 35
  • 59.1 (n)
  • 55.53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10626 36
  • 53 (a)
OneToOne
Species with no ortholog for CWC22:
  • 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
rs17778270 - 179,950,685(+) TCTGC(A/G/T)CCACA reference, missense
rs11903115 - 179,945,634(+) TCCTA(A/T)CATTT reference, missense
rs1046356 - 179,945,475(-) TGAAC(A/G)AAATA reference, missense
rs166379 -- 180,004,111(-) ATCCC(G/T)CTTAT intron-variant
rs262277 -- 180,004,893(-) CCAAA(A/G)TACTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4376n71 CNV Gain 21882294
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

HapMap Linkage Disequilibrium report
CWC22

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

Disorders for CWC22 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
melanomatosis
meningeal melanomatosis
  • leptomeningeal melanomatosis
meningeal melanocytoma
  • leptomeningeal melanocytoma
central nervous system melanocytic neoplasm
  • central nervous system primary melanocytic lesion
congenital aphakia
  • aphakia, congenital primary
- 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 J.A. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 3 4 67
  2. Distinct requirements for somatic and germline expression of a generally expressed Caernorhabditis elegans gene. (PMID: 9136012) Kelly W.G. … Fire A. (Genetics 1997) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. HAUSP regulates c-MYC expression via de-ubiquitination of TRRAP. (PMID: 25925205) Bhattacharya S. … Ghosh M.K. (Cell Oncol (Dordr) 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for CWC22 Gene

Sources for CWC22 Gene

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