DPY19L4 Gene
DPY19L4 (dpy-19 like 4, C. elegans) - a member of the DPY19 family of C-mannosyltransferases
Gene Information Card
| Symbol | DPY19L4 |
|---|---|
| Full Name | dpy-19 like 4, C. elegans |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 286148 ncbi.nlm.nih.gov/gene/286148 |
| Ensembl ID | ENSG00000177917 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617408 |
| HGNC ID | 28338 |
| Aliases | dpy-19-like 4, FLJ32670 |
Description
DPY19L4 encodes a member of the DPY19 family of C-mannosyltransferases. The protein is predicted to localize to the endoplasmic reticulum and is involved in protein C-mannosylation, a post-translational modification important for protein folding and secretion. DPY19L4 is broadly expressed in human tissues and has been implicated in developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Kidney | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| K562 | 10.2 | Moderate expression |
| HeLa | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein glycosylation in the endoplasmic reticulum
Protein Summary
DPY19L4 is a 676-amino acid protein with multiple transmembrane domains, predicted to function as a C-mannosyltransferase in the endoplasmic reticulum. It is involved in the transfer of mannose to tryptophan residues on target proteins, a modification that can affect protein stability and secretion. The protein is conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPY19L4 Knockout HEK293 Cell Line | EDJ-KQ13210 | Human | 286148 | Details Get a Quote |
| DPY19L4 Knockout HeLa Cell Line | EDJ-KQ41353 | Human | 286148 | Details Get a Quote |
| DPY19L4 Knockout A-549 Cell Line | EDJ-KQ42578 | Human | 286148 | Details Get a Quote |
| DPY19L4 Knockout HCT 116 Cell Line | EDJ-KQ42579 | Human | 286148 | Details Get a Quote |
