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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
C20orf173
chromosome 20 open reading frame 173
Chromosome 20 Β· 20q11.22
NCBI Gene: 140873Ensembl: ENSG00000125975.14HGNC: HGNC:16166UniProt: Q96LM9
9PubMed Papers
5Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingbeta-galactoside (CMP) alpha-2,3-sialyltransferase activityglycoprotein biosynthetic processsialylationresponse to statindrug allergyAbnormality of the skeletal systememphysema
✦AI Summary

Based on limited published evidence, C20orf173 is an uncharacterized protein with predicted roles in glycoprotein biosynthesis and sialylation. GO annotations indicate protein binding capacity and beta-galactoside alpha-2,3-sialyltransferase activity, suggesting involvement in cell surface glycan modification and membrane-associated processes. A recent proteomic discovery study identified C20orf173 as a novel protein associated with pulmonary emphysema in a population-based cohort, with associations replicated in COPD studies 1. The protein was retained in predictive models and contributed to explaining emphysema variance, though its specific mechanistic role remains undefined.

Sources cited
1
C20orf173 identified as novel protein significantly associated with percent emphysema in MESA Lung Study, with replication in SPIROMICS and COPDGene studies; retained in LASSO models and contributed unique explanatory variance
PMID: 40616090
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜5
response to statinOpen Targets
0.04Suggestive
drug allergyOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
emphysemaOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ST6GAL2Shared pathway50%ALG1L2Shared pathway50%ST6GAL1Shared pathway33%B3GALT9Shared pathway33%GALNTL5Shared pathway33%B3GALNT2Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
0%
Lung
0%
Brain
0%
Ovary
0%
Liver
0%
Gene Interaction Network
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C20orf173ST6GAL2ALG1L2ST6GAL1B3GALT9GALNTL5B3GALNT2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q96LM9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.15LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.57–1.15]
RankingsWhere C20orf173 stands among ~20K protein-coding genes
  • #17,284of 20,598
    Most Researched9
  • #11,962of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedC20orf173
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Proteomic discovery analysis of quantitatively assessed emphysema in the general population. The MESA Lung Study.
PMID: 40616090
Respir Res Β· 2025
1.00