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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
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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.

Chemical Information
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