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GeneE
2 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.
ALG1L2
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2
Chromosome 3 Β· 3q22.1
NCBI Gene: 644974Ensembl: ENSG00000251287.9HGNC: HGNC:37258UniProt: C9J202
4PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mannosyltransferase activityglycoprotein biosynthetic processendoplasmic reticulumglycosyltransferase activityacquired thrombocytopeniaCOVID-19tooth diseaseAbruptio Placentae
✦AI Summary

Based on limited published evidence, ALG1L2 is a putative glycosyltransferase localized to the endoplasmic reticulum with predicted mannosyltransferase activity involved in glycoprotein biosynthesis. ALG1L2 was identified as one of seven glycosyltransferase genes in a prognostic glyco-risk prediction model for colorectal cancer, where it contributed to stratifying patient survival outcomes and immunotherapy response 1. Additionally, ALG1L2 copy number variation was associated with proctitis (radiation-induced rectal inflammation) in prostate cancer patients undergoing radiotherapy 2. However, the specific molecular mechanisms and biochemical functions of ALG1L2 remain largely uncharacterized.

Sources cited
1
ALG1L2 is one of seven glycosyltransferase genes composing a prognostic model that stratifies colorectal cancer patients by survival and immunotherapy response
PMID: 36757621
2
ALG1L2 copy number variation is associated with proctitis in prostate cancer patients receiving radiotherapy
PMID: 33008348
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
acquired thrombocytopeniaOpen Targets
0.29Weak
COVID-19Open Targets
0.29Weak
tooth diseaseOpen Targets
0.24Weak
Abruptio PlacentaeOpen Targets
0.22Weak
Malformation syndrome with skin/mucosae involvementOpen Targets
0.14Weak
autismOpen Targets
0.11Weak
AnisometropiaOpen Targets
0.07Suggestive
breast benign neoplasmOpen Targets
0.07Suggestive
neutrophil immunodeficiency syndromeOpen Targets
0.05Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.05Suggestive
immunodeficiency 88Open Targets
0.04Suggestive
chronic myeloproliferative disorderOpen Targets
0.04Suggestive
transient myeloproliferative syndromeOpen Targets
0.04Suggestive
Griscelli diseaseOpen Targets
0.04Suggestive
primary immunodeficiency syndrome due to p14 deficiencyOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
ichthyosis prematurity syndromeOpen Targets
0.04Suggestive
acute myelomonocytic leukemiaOpen Targets
0.04Suggestive
uncombable hair syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
B3GALNT2Shared pathway50%C20orf173Shared pathway50%GALNTL5Shared pathway50%RPN1Shared pathway50%UGGT2Shared pathway50%UGGT1Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
87%
Brain
82%
Lung
18%
Liver
16%
Heart
0%
Gene Interaction Network
Click a node to explore
ALG1L2B3GALNT2C20orf173GALNTL5RPN1UGGT2UGGT1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt C9J202
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.61LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.20 [0.90–1.61]
RankingsWhere ALG1L2 stands among ~20K protein-coding genes
  • #18,524of 20,598
    Most Researched4
  • #15,705of 17,882
    Most Constrained (LOEUF)1.61
Genes detectedALG1L2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Emerging glyco-risk prediction model to forecast response to immune checkpoint inhibitors in colorectal cancer.
PMID: 36757621
J Cancer Res Clin Oncol Β· 2023
1.00
2
Genetically-regulated transcriptomics & copy number variation of proctitis points to altered mitochondrial and DNA repair mechanisms in individuals of European ancestry.
PMID: 33008348
BMC Cancer Β· 2020
0.50