Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84522
MIM: 616012
HGNC: 26926
Ensembl: ENSG00000171135
Variants:
dbSNP: 84522
ClinVar: 84522
TCGA: ENSG00000171135
COSMIC: JAGN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000171135 | ENST00000489724 | A0A3B3ITE9 |
| ENSG00000171135 | ENST00000647897 | Q8N5M9 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37120535 | 2023 | JAGN1 mutation with distinct clinical features; two case reports and literature review. | 1 |
| 37120535 | 2023 | JAGN1 mutation with distinct clinical features; two case reports and literature review. | 1 |
| 32930709 | 2021 | A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans. | 8 |
| 33206996 | 2021 | Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells. | 4 |
| 32930709 | 2021 | A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans. | 8 |
| 33206996 | 2021 | Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells. | 4 |
| 32783652 | 2020 | JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting? | 1 |
| 32783652 | 2020 | JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting? | 1 |
| 30106500 | 2018 | JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia. | 12 |
| 30106500 | 2018 | JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia. | 12 |
| 25129144 | 2014 | JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. | 46 |
| 25129145 | 2014 | Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense. | 31 |
| 25129144 | 2014 | JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. | 46 |
| 25129145 | 2014 | Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense. | 31 |
Citation
Dessen P
JAGN1 (jagunal homolog 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64711/jagn1-(jagunal-homolog-1)
