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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
C2orf49
chromosome 2 open reading frame 49
Chromosome 2 Β· 2q12.2
NCBI Gene: 79074Ensembl: ENSG00000135974.11HGNC: HGNC:28772UniProt: C9J4K0
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleusnucleoplasmtRNA-splicing ligase complexneurodegenerative diseaselysosomal storage diseasesubstance-related disorderupper respiratory tract disorder
✦AI Summary

C2orf49, also known as ASW (Archease Subunit of tRNA splicing Ligase), is an accessory subunit of the tRNA-splicing ligase complex essential for tRNA maturation 1. It functions as a component of the mammalian RNA ligation machinery, where it cooperates with RTCB (the catalytic subunit), archease, and DDX1 helicase to join spliced tRNA halves by forming canonical 3',5'-phosphodiester bonds at the splice junction 1. The protein localizes to the nucleus and nucleoplasm, where it participates in the generation of functional tRNAs required for protein synthesis 1. Beyond tRNA splicing, C2orf49 may possess broader RNA ligase activity toward other RNA substrates. Developmental studies indicate C2orf49 orthologs regulate cell survival and anteroposterior patterning, with dysregulated expression triggering apoptosis 2. Clinically, the C2orf49-derived long non-coding RNA C2orf49-DT is upregulated in colorectal cancer samples and associated with poor patient prognosis, correlating with increased cell proliferation pathways and proposed as a potential biomarker for cancer diagnosis and prognostication 3. These findings suggest C2orf49 dysfunction may contribute to both developmental abnormalities and oncogenic transformation.

Sources cited
1
C2orf49 (ASW) is an accessory subunit of the tRNA-splicing ligase complex required for RNA ligation and tRNA maturation
PMID: 24870230
2
C2orf49 ortholog ashwin regulates cell survival and anteroposterior patterning during embryonic development
PMID: 16680723
3
C2orf49-DT long non-coding RNA is upregulated in colorectal cancer and associated with poor prognosis and cell proliferation
PMID: 41348314
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.53Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
substance-related disorderOpen Targets
0.31Weak
upper respiratory tract disorderOpen Targets
0.29Weak
smoking initiationOpen Targets
0.14Weak
intelligenceOpen Targets
0.10Weak
schizophreniaOpen Targets
0.10Weak
Abdominal Aortic AneurysmOpen Targets
0.08Suggestive
obesityOpen Targets
0.03Suggestive
atopic eczemaOpen Targets
0.02Suggestive
poisoningOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
pancreatic adenocarcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DDX1Protein interaction100%FAM98BProtein interaction81%ZBTB8OSProtein interaction72%FAM98AProtein interaction72%RTCBProtein interaction72%RTRAFProtein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
59%
Ovary
58%
Brain
49%
Liver
35%
Lung
34%
Gene Interaction Network
Click a node to explore
C2orf49DDX1FAM98BZBTB8OSFAM98ARTCBRTRAF
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BVC5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.53 [0.33–0.88]
RankingsWhere C2orf49 stands among ~20K protein-coding genes
  • #10,924of 20,598
    Most Researched35
  • #7,767of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedC2orf49
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Analysis of orthologous groups reveals archease and DDX1 as tRNA splicing factors.
PMID: 24870230
Nature Β· 2014
1.00
2
Novel gene ashwin functions in Xenopus cell survival and anteroposterior patterning.
PMID: 16680723
Dev Dyn Β· 2006
0.67
3
Candidate Prognostic LncRNAs Including C2orf49-DT, CAPN10-DT, LOC105371795 as Potential Biomarkers for Colorectal Cancer.
PMID: 41348314
Biochem Genet Β· 2025
0.33