ISLR2 — immunoglobulin superfamily containing leucine rich repeat 2

5 sources retrieved · Most recent: April 2026 · Index updated 3 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 membraneaortic diseasedevelopmental and epileptic encephalopathy, 33genetic developmental and epileptic encephalopathyundetermined early-onset epileptic encephalopathy

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

aortic diseaseOpen Targets

0.28Weak

developmental and epileptic encephalopathy, 33Open Targets

0.27Weak

genetic developmental and epileptic encephalopathyOpen Targets

0.27Weak

undetermined early-onset epileptic encephalopathyOpen Targets

0.27Weak

DermatochalasisOpen Targets

0.18Weak

Abnormality of the skeletal systemOpen Targets

0.13Weak

COVID-19Open Targets

0.10Weak

skin agingOpen Targets

0.08Suggestive

hereditary neuropathy with liability to pressure palsiesOpen Targets

0.04Suggestive

Charcot-Marie-Tooth disease type 1AOpen Targets

0.03Suggestive

amyotrophic lateral sclerosis type 11Open Targets

0.03Suggestive

familial amyotrophic lateral sclerosisOpen Targets

0.03Suggestive

amyotrophic lateral sclerosis type 4Open Targets

0.03Suggestive

amyotrophic lateral sclerosisOpen Targets

0.03Suggestive

amyotrophic lateral sclerosis type 22Open Targets

0.03Suggestive

osteoarthritisOpen Targets

0.03Suggestive

HydrocephalusOpen Targets

0.02Suggestive

Down syndromeOpen Targets

0.02Suggestive

congenital hydrocephalusOpen Targets

0.01Suggestive

neuroblastomaOpen Targets

0.01Suggestive

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

Click a node to explore

StructureAlphaFold

Preparing viewer…

AlphaFoldAI-predicted · UniProt Q6UXK2

View on AlphaFold

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
#5,472of 5,509
Most Pathogenic Variants1
#7,753of 17,882
Most Constrained (LOEUF)0.88