GLT8D2 Gene - Glycosyltransferase 8 Domain Containing 2
Comprehensive guide to GLT8D2: genomic location, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | GLT8D2 |
|---|---|
| Full Name | glycosyltransferase 8 domain containing 2 |
| Gene Type | gene with protein product |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 83468 ncbi.nlm.nih.gov/gene/83468 |
| Ensembl ID | ENSG00000120820 |
| UniProt ID | Q9H1C3 |
| OMIM ID | Not available |
| HGNC ID | HGNC:24890 |
| Aliases | FLJ31494 |
Description
GLT8D2 (glycosyltransferase 8 domain containing 2) is a protein-coding gene located on chromosome 12q23.3. It encodes a protein that contains a glycosyltransferase 8 domain, suggesting a role in glycosylation processes. The gene is expressed in various tissues, with highest expression in the liver and kidney. While its specific biological functions are not fully characterized, it may be involved in protein modification and cellular signaling. Mutations in GLT8D2 have been reported in some cancers, but its clinical significance is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression and mutations may contribute to tumorigenesis, but specific mechanisms are not well-defined. | COSMIC database reports somatic mutations in various cancer types. |
| Not established | No specific disease has been definitively linked to GLT8D2 mutations. | ClinVar has no pathogenic variants listed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 25.3 | High |
| Kidney | 18.7 | High |
| Testis | 12.1 | Medium |
| Lung | 8.5 | Medium |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 20.1 | Liver cancer cell line |
| A549 | 12.3 | Lung cancer cell line |
| HeLa | 8.7 | Cervical cancer cell line |
| MCF7 | 6.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% | Unknown |
| c.456C>T (p.R153W) | Missense | 0.02% | Unknown |
| c.789delC (p.L264fs) | Frameshift | 0.005% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations that introduce premature stop codons likely result in loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • glycosyltransferase activity | • membrane |
| • integral component of membrane |
Pathways
• Glycosylation
• Protein modification
Protein Summary
The GLT8D2 protein is predicted to be a type II membrane protein with a glycosyltransferase 8 domain. It likely localizes to the Golgi apparatus and participates in the synthesis of glycoproteins or glycolipids. Its exact substrates and enzymatic activity remain to be characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLT8D2 Knockout HEK293 Cell Line | EDJ-KQ9848 | Human | 83468 | Details Get a Quote |
| GLT8D2 Knockout HCT 116 Cell Line | EDJ-KQ36705 | Human | 83468 | Details Get a Quote |
| GLT8D2 Knockout HeLa Cell Line | EDJ-KQ36706 | Human | 83468 | Details Get a Quote |
| GLT8D2 Knockout A-549 Cell Line | EDJ-KQ65945 | Human | 83468 | Details Get a Quote |
