ALG1L2
ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase Like 2
Gene Information Card
| Symbol | ALG1L2 |
|---|---|
| Full Name | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NEM2 |
| OMIM ID | 618862 |
| HGNC ID | 44079 |
| Aliases | ALG1L2, ALG1-like 2, MGC16384 |
Description
ALG1L2 is a protein-coding gene that encodes a putative beta-mannosyltransferase similar to ALG1, which is involved in the early steps of N-glycosylation. The protein is predicted to localize to the endoplasmic reticulum and may participate in the synthesis of the dolichol-linked oligosaccharide precursor. Expression data suggest tissue-specific regulation, with highest levels in testis and certain brain regions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (potential) | Impaired N-glycan assembly due to ALG1L2 dysfunction | Inferred by homology to ALG1 (OMIM #608540) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Cerebral cortex | 6.1 | Low |
| Heart | 3.2 | Not detected |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| K562 | 2.1 | Not detected |
| HeLa | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Start codon loss (predicted) |
| c.245C>T | Missense | <0.01% | p.Pro82Leu (unknown significance) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004576 (oligosaccharyl transferase activity) | • GO:0006486 (protein glycosylation) |
| • GO:0005789 (endoplasmic reticulum membrane) |
Pathways
• N-glycan biosynthesis (KEGG: hsa00510)
Protein Summary
ALG1L2 encodes a 452-amino acid protein with a predicted N-terminal transmembrane domain and a glycosyltransferase domain. It shares sequence similarity with ALG1, a beta-1,4-mannosyltransferase that adds the first mannose to the dolichol-PP-oligosaccharide. The protein is likely involved in N-linked glycosylation, though its exact substrate and catalytic activity remain to be experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALG1L2 Knockout HEK293 Cell Line | EDJ-KQ12331 | Human | 644974 | Details Get a Quote |
| ALG1L2 Knockout HeLa Cell Line | EDJ-KQ60578 | Human | 644974 | Details Get a Quote |
| ALG1L2 Knockout A-549 Cell Line | EDJ-KQ69047 | Human | 644974 | Details Get a Quote |
| ALG1L2 Knockout HCT 116 Cell Line | EDJ-KQ77402 | Human | 644974 | Details Get a Quote |
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