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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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IGLON5
IgLON family member 5
Chromosome 19 · 19q13.41
NCBI Gene: 402665Ensembl: ENSG00000142549.10HGNC: HGNC:34550UniProt: A6NGN9
5PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
heterophilic cell-cell adhesionregulation of synapse assemblyplasma membraneneuron recognitionneurodegenerative diseasesupranuclear palsy, progressive, 1Chest painNeck pain
✦AI Summary

IGLON5 (IgLON family member 5) is a cell adhesion molecule mediating heterophilic cell-cell adhesion and synapse assembly regulation [GO Annotations]. The protein is located on the plasma membrane and functions as a neuronal surface antigen. IGLON5's primary clinical significance derives from its role in autoimmune encephalitis: anti-IgLON5 disease is a recently characterized autoimmune disorder where autoantibodies against IGLON5 cause neuronal damage 1. Unlike other autoimmune encephalitis-related antibodies, anti-IgLON5 antibody-induced neuronal damage is irreversible, linking autoimmunity with neurodegeneration 1. The disease presents with distinctive sleep disorders alongside heterogeneous neurological symptoms including cognitive dysfunction, psychiatric manifestations, and atypical presentations mimicking progressive supranuclear palsy or motor neuron disease 2. Neuropathological examination reveals a novel tauopathy preferentially affecting the hypothalamus and brainstem tegmentum 1. Genetic studies have identified human leukocyte antigen (HLA) associations with anti-IgLON5 disease 3. MRI findings are often unremarkable, though brainstem, hippocampal, and cerebellar lesions and atrophy may occur in some cases 4. Early diagnosis requires comprehensive neural antibody testing using both tissue and cell-based assays 5, with neurofilament light chain levels emerging as a potential biomarker for immunotherapy response 2.

Sources cited
1
Anti-IgLON5 disease characteristics, irreversible neuronal damage, and tauopathy in hypothalamus and brainstem
PMID: 36254983
2
Anti-IgLON5 disease clinical presentation, sleep disorders, atypical disease mimics, and neurofilament light chain biomarker
PMID: 38563128
3
HLA genetic associations with anti-IgLON5 disease and expanded clinical spectrum
PMID: 39706227
4
MRI findings in IgLON5-disease showing mostly unremarkable imaging with occasional brainstem and hippocampal lesions
PMID: 39358087
5
Diagnostic criteria requiring comprehensive neural antibody testing with tissue and cell-based assays
PMID: 37210100
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
supranuclear palsy, progressive, 1Open Targets
0.09Suggestive
Chest painOpen Targets
0.08Suggestive
Neck painOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
tauopathyOpen Targets
0.08Suggestive
PainOpen Targets
0.06Suggestive
Senior-Boichis syndromeOpen Targets
0.06Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.05Suggestive
polycystic kidney disease 5Open Targets
0.05Suggestive
encephalitisOpen Targets
0.04Suggestive
nephronophthisis 3Open Targets
0.04Suggestive
polycystic kidney disease 8Open Targets
0.04Suggestive
Down syndromeOpen Targets
0.04Suggestive
congenital neutropenia-myelofibrosis-nephromegaly syndromeOpen Targets
0.04Suggestive
Recurrent infections-myelofibrosis-nephromegaly syndromeOpen Targets
0.04Suggestive
nephronophthisisOpen Targets
0.04Suggestive
sclerosing cholangitisOpen Targets
0.03Suggestive
Tyrosinemia type 1Open Targets
0.03Suggestive
polycystic kidney disease 4Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DPP10Protein interaction89%DPP6Protein interaction89%LGI1Protein interaction89%CNTNAP2Protein interaction82%PNMA2Protein interaction80%OPCMLShared pathway75%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
71%
Liver
48%
Ovary
23%
Lung
2%
Heart
0%
Gene Interaction Network
Click a node to explore
IGLON5DPP10DPP6LGI1CNTNAP2PNMA2OPCML
PROTEIN STRUCTURE
Preparing viewer…
PDB6DLD · 3.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.54 [0.36–0.83]
RankingsWhere IGLON5 stands among ~20K protein-coding genes
  • #18,341of 20,598
    Most Researched5
  • #7,048of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedIGLON5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A clinical approach to diagnosis of autoimmune encephalitis.
PMID: 26906964
Lancet Neurol · 2016
1.00
2
Diagnostic criteria for autoimmune encephalitis: utility and pitfalls for antibody-negative disease.
PMID: 37210100
Lancet Neurol · 2023
0.90
3
Hashimoto's Encephalopathy: Case Series and Literature Review.
PMID: 36853554
Curr Neurol Neurosci Rep · 2023
0.80
4
Recent advances in autoimmune encephalitis.
PMID: 39706227
Arq Neuropsiquiatr · 2024
0.70
5
Anti-IgLON5 disease: a novel topic beyond neuroimmunology.
PMID: 36254983
Neural Regen Res · 2023
0.60