JAGN1

Chr 3p25.3

jagunal vesicle mediated transporter 1

Aliases:: GL009, FLJ14602
MANE:: ENST00000647897.1

OMIM: 616012 ↗NCBI: 84522 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

JAGN1 · Q8N5M9

v62025-08-01

Predicted Aligned Error matrix for JAGN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.3/ 100

Very high

183 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)12%
Low(50–70)9%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
0.77
severe congenital neutropenia
0.73
neurodegenerative disease
0.29
hereditary disease
0.19
frontotemporal dementia
0.12
amyotrophic lateral sclerosis
0.12
behavioral variant of frontotemporal dementia
0.12
alcohol drinking
0.09
pancreatic insulinoma
0.04
cyclic hematopoiesis
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein jagunal homolog 1

Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils