JAGN1
Jagunal Homolog 1: A Key Regulator of Neutrophil Differentiation and ER Stress Response
Gene Information Card
| Symbol | JAGN1 |
|---|---|
| Full Name | Jagunal Homolog 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 84522 ncbi.nlm.nih.gov/gene/84522 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 615912 |
| HGNC ID | 26922 |
| Aliases | JAGN1, C3orf41, JAGN1_HUMAN |
Description
JAGN1 encodes a protein involved in the early secretory pathway, essential for neutrophil differentiation and survival. It localizes to the endoplasmic reticulum (ER) and is required for proper ER function and response to ER stress. Loss-of-function mutations in JAGN1 cause severe congenital neutropenia (SCN) due to impaired neutrophil maturation and increased apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe Congenital Neutropenia (SCN) | Loss-of-function mutations impair neutrophil differentiation and induce ER stress-mediated apoptosis | ClinVar, OMIM |
| Bone Marrow Failure | Defective JAGN1 leads to reduced neutrophil production and bone marrow hypocellularity | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyeloblast) | 15.0 | High expression; model for neutrophil differentiation |
| K-562 (leukemia) | 9.5 | Moderate expression |
| HEK293 (embryonic kidney) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense/Start loss | Rare | Loss of protein expression; causes SCN |
| c.130C>T (p.Arg44*) | Nonsense | Rare | Premature truncation; loss of function |
| c.200T>C (p.Leu67Pro) | Missense | Rare | Disrupts protein folding; ER stress |
Mutation functional classification
Loss of Function (LOF)
Most JAGN1 mutations are loss-of-function, leading to reduced or absent protein, impaired neutrophil differentiation, and increased apoptosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • response to ER stress (GO:0034976) |
| • granulocyte differentiation (GO:0030851) | • negative regulation of apoptotic process (GO:0043066) |
Pathways
• Unfolded Protein Response (UPR)
• Neutrophil differentiation pathway
Protein Summary
JAGN1 is a 164-amino acid protein localized to the endoplasmic reticulum. It is essential for maintaining ER homeostasis and promoting survival of neutrophil progenitors. The protein interacts with components of the secretory pathway and is critical for proper neutrophil maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JAGN1 Knockout HEK293 Cell Line | EDJ-KQ10108 | Human | 84522 | Details Get a Quote |
| JAGN1 Knockout A-549 Cell Line | EDJ-KQ37196 | Human | 84522 | Details Get a Quote |
| JAGN1 Knockout HCT 116 Cell Line | EDJ-KQ37197 | Human | 84522 | Details Get a Quote |
| JAGN1 Knockout HeLa Cell Line | EDJ-KQ37198 | Human | 84522 | Details Get a Quote |
