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    CWC22 CWC22 spliceosome associated protein homolog [ Homo sapiens (human) ]

    Gene ID: 57703, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CWC22provided by HGNC
    Official Full Name
    CWC22 spliceosome associated protein homologprovided by HGNC
    Primary source
    HGNC:HGNC:29322
    See related
    Ensembl:ENSG00000163510 MIM:615186; AllianceGenome:HGNC:29322
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NCM; fSAPb; EIF4GL
    Summary
    Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in cytosol and nuclear speck. Part of U2-type catalytic step 1 spliceosome; U2-type catalytic step 2 spliceosome; and U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lymph node (RPKM 9.1), thyroid (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q31.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (179944876..180007297, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (180428148..180490575, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (180809603..180872024, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 385B Neighboring gene microRNA 1258 Neighboring gene small nucleolar RNA SNORA43 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:180871172-180871704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:180898515-180899015 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:180921213-180921999 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:180936454-180937019 Neighboring gene ERG-positive prostate cancer associated androgen responsive transcript Neighboring gene uncharacterized LOC105373768

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CWC22 connects pre-mRNA splicing and exon junction complex assembly. Steckelberg AL, et al. Cell Rep, 2012 Sep 27. PMID 22959432
    2. Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes. Busetto V, et al. Nucleic Acids Res, 2020 Jun 4. PMID 32329775, Free PMC Article
    3. Crystal structure of the human eIF4AIII-CWC22 complex shows how a DEAD-box protein is inhibited by a MIF4G domain. Buchwald G, et al. Proc Natl Acad Sci U S A, 2013 Nov 26. PMID 24218557, Free PMC Article
    4. Human spliceosomal protein CWC22 plays a role in coupling splicing to exon junction complex deposition and nonsense-mediated decay. Alexandrov A, et al. Proc Natl Acad Sci U S A, 2012 Dec 26. PMID 23236153, Free PMC Article
    5. Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers. Han SW, et al. Sci Rep, 2020 Apr 28. PMID 32345988, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers.
      Title: Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers.
    2. Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.
      Title: Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.
    3. The binding mode of CWC22 to eIF4AIII reveals a facet of how MIF4G domains use their versatile structural frameworks to activate or inhibit DEAD-box proteins.
      Title: Crystal structure of the human eIF4AIII-CWC22 complex shows how a DEAD-box protein is inhibited by a MIF4G domain.
    4. CWC22 connects pre-mRNA splicing and exon junction complex assembly.
      Title: CWC22 connects pre-mRNA splicing and exon junction complex assembly.
    5. The essential splicing factor CWC22 has acquired functions in exon junction complex assembly and nonsense-mediated decay during evolution from single-celled to complex eukaryotes.
      Title: Human spliceosomal protein CWC22 plays a role in coupling splicing to exon junction complex deposition and nonsense-mediated decay.
    6. CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly
      Title: Human CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1604

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U2-type catalytic step 1 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pre-mRNA-splicing factor CWC22 homolog
    Names
    CWC22 homolog, spliceosome-associated protein
    CWC22 spliceosome-associated protein
    functional spliceosome-associated protein b
    nucampholin homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001376029.1 → NP_001362958.1  pre-mRNA-splicing factor CWC22 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variants 1 and 3, encodes isoform a.
      Source sequence(s)
      AC068194, AC096587
      Consensus CDS
      CCDS46465.1
      UniProtKB/Swiss-Prot
      Q05DC2, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6, Q9HCG8
      UniProtKB/TrEMBL
      B7WP74
      Related
      ENSP00000384159.2, ENST00000404136.2
      Conserved Domains (3) summary
      smart00543
      Location:164 → 345
      MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
      TIGR01622
      Location:821 → 902
      SF-CC1; splicing factor, CC1-like family
      pfam02847
      Location:455 → 561
      MA3; MA3 domain

    2. NM_001376030.1 → NP_001362959.1  pre-mRNA-splicing factor CWC22 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3). as well as variants 1 and 2, encodes isoform a.
      Source sequence(s)
      AC068194, AC096587
      Consensus CDS
      CCDS46465.1
      UniProtKB/Swiss-Prot
      Q05DC2, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6, Q9HCG8
      UniProtKB/TrEMBL
      B7WP74
      Conserved Domains (3) summary
      smart00543
      Location:164 → 345
      MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
      TIGR01622
      Location:821 → 902
      SF-CC1; splicing factor, CC1-like family
      pfam02847
      Location:455 → 561
      MA3; MA3 domain

    3. NM_001376032.1 → NP_001362961.1  pre-mRNA-splicing factor CWC22 homolog isoform b

      Status: VALIDATED

      Source sequence(s)
      AC068194, AC096587
      UniProtKB/TrEMBL
      B7WP74
      Conserved Domains (4) summary
      smart00543
      Location:123 → 304
      MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
      TIGR01622
      Location:780 → 861
      SF-CC1; splicing factor, CC1-like family
      TIGR01642
      Location:702 → 833
      U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor
      pfam02847
      Location:414 → 520
      MA3; MA3 domain

    4. NM_001376033.1 → NP_001362962.1  pre-mRNA-splicing factor CWC22 homolog isoform c

      Status: VALIDATED

      Source sequence(s)
      AC068194, AC096587
      UniProtKB/TrEMBL
      B7WP74
      Conserved Domains (2) summary
      smart00543
      Location:164 → 345
      MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
      cl02653
      Location:455 → 561
      MA3; MA3 domain

    5. NM_020943.3 → NP_065994.1  pre-mRNA-splicing factor CWC22 homolog isoform a

      See identical proteins and their annotated locations for NP_065994.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB046824, AC068194, AC096587, BC031216
      Consensus CDS
      CCDS46465.1
      UniProtKB/Swiss-Prot
      Q05DC2, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6, Q9HCG8
      UniProtKB/TrEMBL
      B7WP74
      Related
      ENSP00000387006.3, ENST00000410053.8
      Conserved Domains (3) summary
      smart00543
      Location:164 → 345
      MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
      TIGR01622
      Location:821 → 902
      SF-CC1; splicing factor, CC1-like family
      pfam02847
      Location:455 → 561
      MA3; MA3 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      179944876..180007297 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      180428148..180490575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCG8.3 GenPept UniProtKB/Swiss-Prot:Q9HCG8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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