JAGN1

Chr 3AR

jagunal vesicle mediated transporter 1

Also known as: GL009, SCN6

NCBI Gene: 84522 ENSG00000171135 UniProt: Q8N5M9 OMIM: 616012

This endoplasmic reticulum transmembrane protein regulates vesicle-mediated transport and is essential for neutrophil differentiation, survival, and function including defense against fungal pathogens. Mutations cause severe congenital neutropenia with autosomal recessive inheritance, typically presenting in the neonatal period with recurrent infections.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neutropenia, severe congenital, 6, autosomal recessiveMIM #616022

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.35

LOEUF

LOF

Mechanism· G2P