DOP1B
DOP1 Leucine Zipper Like Protein B
Gene Information Card
| Symbol | DOP1B |
|---|---|
| Full Name | DOP1 Leucine Zipper Like Protein B |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.12 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000205730 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 618250 |
| HGNC ID | 44219 |
| Aliases | DOPEY2, DOP1, KIAA1779 |
Description
DOP1B encodes a leucine zipper-like protein involved in vesicle trafficking and Golgi function. It is a paralog of DOP1A and is expressed in multiple tissues. The gene is located on chromosome 21q22.12 and is associated with Down syndrome critical region.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Down syndrome | Overexpression due to trisomy 21 may contribute to developmental phenotypes | OMIM 618250; NCBI Gene |
| Intellectual disability | Potential role in neuronal development and synaptic function | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 8.9 | Low expression |
| SH-SY5Y | 14.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.01% | Unknown functional impact |
| c.567delA | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations predicted to cause nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi organization | • vesicle-mediated transport |
| • protein transport | • leucine zipper domain |
Pathways
• Vesicle trafficking
• Golgi-to-ER retrograde transport
Protein Summary
DOP1B is a 1,234-amino acid protein containing a leucine zipper motif. It localizes to the Golgi apparatus and is involved in maintaining Golgi structure and function. The protein interacts with components of the COG complex and is essential for proper vesicle tethering.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DOP1B Knockout HEK293 Cell Line | EDJ-KQ6214 | Human | 9980 | Details Get a Quote |
| DOP1B Knockout A-549 Cell Line | EDJ-KQ31423 | Human | 9980 | Details Get a Quote |
| DOP1B Knockout HCT 116 Cell Line | EDJ-KQ31425 | Human | 9980 | Details Get a Quote |
| DOP1B Knockout HeLa Cell Line | EDJ-KQ31426 | Human | 9980 | Details Get a Quote |
