GLB1L2 Gene - Galactosidase Beta 1 Like 2
Comprehensive genomic and functional overview of GLB1L2, a beta-galactosidase-like protein with potential roles in lysosomal function and disease.
Gene Information Card
| Symbol | GLB1L2 |
|---|---|
| Full Name | Galactosidase Beta 1 Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 89944 ncbi.nlm.nih.gov/gene/89944 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | Q8N3X1 |
| OMIM ID | 618806 |
| HGNC ID | 25017 |
| Aliases | MGC13170, bA100C15.2 |
Description
GLB1L2 (Galactosidase Beta 1 Like 2) is a protein-coding gene located on chromosome 3p21.31. It encodes a protein that shares sequence similarity with beta-galactosidase (GLB1), suggesting a potential role in lysosomal glycolipid or glycoprotein catabolism. The gene is expressed in multiple tissues, with highest levels in the testis and thyroid. Limited functional studies exist, but GLB1L2 may be involved in lysosomal storage disorders or cancer through altered glycosidase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| GM1 gangliosidosis (related via homology) | Sequence similarity to GLB1; potential functional redundancy or modifier effect | Inferred from homology; no direct ClinVar pathogenic variants reported |
| Cancer (general) | Altered expression in certain tumors; possible role in glycosylation pathways | COSMIC somatic mutation data; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 9.8 | Medium |
| Adrenal gland | 6.2 | Low |
| Prostate | 5.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.4 | Moderate expression |
| HeLa | 6.1 | Low expression |
| K562 | 4.7 | Low expression |
| A549 | 3.2 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Val34Ile) | Missense | <0.01% (gnomAD) | Unknown; predicted benign |
| c.245C>T (p.Thr82Met) | Missense | <0.01% (gnomAD) | Unknown; predicted possibly damaging (in silico) |
| c.512A>G (p.Asn171Ser) | Missense | 0.02% (gnomAD) | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or literature.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • beta-galactosidase activity (GO:0004565) | • carbohydrate metabolic process (GO:0005975) |
| • lysosome (GO:0005764) |
Pathways
• Glycosphingolipid metabolism (Reactome R-HSA-1660662)
• Lysosome (KEGG hsa04142)
Protein Summary
The GLB1L2 protein (UniProt Q8N3X1) is a 648-amino acid polypeptide predicted to localize to the lysosome. It contains a glycosyl hydrolase domain (GH35) characteristic of beta-galactosidases. Its exact substrate specificity remains unknown, but it is hypothesized to hydrolyze terminal beta-galactosyl residues from glycoconjugates. Structural modeling suggests a TIM barrel fold typical of family 35 glycosidases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLB1L2 Knockout HEK293 Cell Line | EDJ-KQ10542 | Human | 89944 | Details Get a Quote |
| GLB1L2 Knockout A-549 Cell Line | EDJ-KQ37978 | Human | 89944 | Details Get a Quote |
| GLB1L2 Knockout HCT 116 Cell Line | EDJ-KQ37979 | Human | 89944 | Details Get a Quote |
| GLB1L2 Knockout HeLa Cell Line | EDJ-KQ37980 | Human | 89944 | Details Get a Quote |
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