ISLR2 — immunoglobulin superfamily containing leucine rich repeat 2

5 sources retrieved · Most recent: April 2026 · Index updated 5 months ago

12PubMed Papers

#16,441 · top 85% of 19K genes

20Diseases

top 83%

0Drugs

1Pathogenic Variants

top 99%

Experimental GO EvidenceSwiss-Prot Reviewed

protein bindingpositive regulation of axon extensioncell surfaceplasma membranedevelopmental and epileptic encephalopathy, 33undetermined early-onset epileptic encephalopathyaortic disorderDermatochalasis

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

immunoglobulin superfamily containing leucine rich repeat 2

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations20

developmental and epileptic encephalopathy, 33Open Targets

0.27Weak

undetermined early-onset epileptic encephalopathyOpen Targets

0.27Weak

aortic disorderOpen Targets

0.25Weak

DermatochalasisOpen Targets

0.19Weak

skin agingOpen Targets

0.15Weak

COVID-19Open Targets

0.13Weak

Abnormality of the skeletal systemOpen Targets

0.10Suggestive

osteoarthritisOpen Targets

0.06Suggestive

Genetic central nervous system malformationOpen Targets

0.06Suggestive

schizencephalyOpen Targets

0.05Suggestive

cobblestone lissencephaly without muscular or ocular involvementOpen Targets

0.05Suggestive

lissencephaly due to TUBA1A mutationOpen Targets

0.05Suggestive

microcephalic primordial dwarfism due to ZNF335 deficiencyOpen Targets

0.05Suggestive

Polymicrogyria due to TUBB2B mutationOpen Targets

0.05Suggestive

Microcephaly - polymicrogyria - corpus callosum agenesisOpen Targets

0.05Suggestive

microcephaly-polymicrogyria-corpus callosum agenesis syndromeOpen Targets

0.05Suggestive

familial congenital mirror movementsOpen Targets

0.04Suggestive

mirror movements 1Open Targets

0.04Suggestive

microangiopathy and leukoencephalopathy, pontine, autosomal dominantOpen Targets

0.04Suggestive

HydrocephalusOpen Targets

0.04Suggestive

Pathogenic Variants1

NM_020851.3(ISLR2):c.968G>A (p.Trp323Ter)Likely pathogenic

Developmental and epileptic encephalopathy, 33

★☆☆☆2025→ Residue 323

Tissue Expression6 tissues

Brain

100%

Heart

40%

Ovary

Lung

Liver

Bone Marrow

Gene Interaction Network6 neighbors

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StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q6UXK2

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ConstraintgnomAD v4.1

LOEUFⓘ

0.88LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.58 [0.40–0.88]

Rankings3 dim

Where ISLR2 stands among ~20K protein-coding genes

#16,478of 20,598
Most Researched12
#5,491of 5,529
Most Pathogenic Variants1
#7,753of 17,882
Most Constrained (LOEUF)0.88