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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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IGSF21
immunoglobin superfamily member 21
Chromosome 1 · 1p36.13
NCBI Gene: 84966Ensembl: ENSG00000117154.13HGNC: HGNC:28246UniProt: Q96ID5
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
synapse maturationtrans-synaptic signaling, modulating synaptic transmissionplasma membranecell junctionsmoking initiationsubstance abuseattention deficit hyperactivity disorderBarrett's esophagus
✦AI Summary

IGSF21 is an immunoglobulin superfamily protein that functions as a selective regulator of inhibitory synaptic development in the brain. IGSF21 localizes postsynaptically and promotes inhibitory presynaptic differentiation through trans-synaptic interaction with presynaptic neurexin2α (NRXN2) 1. This interaction is essential for proper synaptic organization and function; mice lacking IgSF21 show impaired inhibitory presynaptic organization in the hippocampal CA1 region and diminished GABA-mediated synaptic transmission, resulting in sensorimotor gating deficits 1. Alpha-neurexins utilize IgSF21 as a ligand to contribute to synaptic diversity and neural circuit activity fine-tuning 2. Beyond core synaptic function, IGSF21 has emerging disease relevance. Genetic variants in IGSF21-KLHDC7A are associated with diabetic retinopathy risk in type 2 diabetes; the CT-TT genotype of rs3007729 increased diabetic retinopathy development and correlated with elevated serum LDL concentrations 3. Single-nucleus transcriptomic analysis reveals increased IGSF21+ microglia abundance in Alzheimer's disease tissue, suggesting involvement in neuroinflammatory pathways 4. Additionally, proteomic evidence identifies IGSF21 as a potential therapeutic target for premature ovarian failure through Mendelian randomization analysis 5. These findings suggest IGSF21 functions beyond classical synaptic inhibition, implicating broader roles in neuroprotection and age-related diseases.

Sources cited
1
IGSF21 localizes postsynaptically and promotes inhibitory presynaptic differentiation through interaction with neurexin2α; IgSF21 knockout mice show impaired inhibitory synaptic transmission and sensorimotor gating deficits
PMID: 28864826
2
IgSF21 is identified as a ligand of alpha-neurexins that contributes to synaptic diversity and fine-tuning of neural circuit activity
PMID: 41333154
3
IGSF21-KLHDC7A rs3007729 CT-TT genotype increases diabetic retinopathy risk and correlates with elevated serum LDL concentrations
PMID: 27607899
4
IGSF21+ microglia abundance is increased in Alzheimer's disease tissue and is involved in oxidative stress and inflammation-related pathways
PMID: 39153159
5
IGSF21 is identified as a causal protein associated with premature ovarian failure through Mendelian randomization analysis
PMID: 40883588
Disease Associationsⓘ20
smoking initiationOpen Targets
0.49Moderate
attention deficit hyperactivity disorderOpen Targets
0.36Weak
substance abuseOpen Targets
0.36Weak
Barrett's esophagusOpen Targets
0.33Weak
cervical carcinomaOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
VitiligoOpen Targets
0.23Weak
major salivary gland cancerOpen Targets
0.23Weak
JaundiceOpen Targets
0.22Weak
pernicious anemiaOpen Targets
0.22Weak
atrophic gastritisOpen Targets
0.20Weak
placental retentionOpen Targets
0.19Weak
mixed connective tissue diseaseOpen Targets
0.04Suggestive
kidney diseaseOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
central nervous system infectionOpen Targets
0.03Suggestive
hidradenitisOpen Targets
0.03Suggestive
spondylolisthesisOpen Targets
0.03Suggestive
childhood supratentorial ependymomaOpen Targets
0.02Suggestive
insomniaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SYBUShared pathway33%CBLN3Shared pathway33%C1QL4Shared pathway33%SEZ6LShared pathway25%SEZ6L2Shared pathway25%CBLN2Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
49%
Heart
15%
Lung
8%
Ovary
6%
Liver
4%
Gene Interaction Network
Click a node to explore
IGSF21SYBUCBLN3C1QL4SEZ6LSEZ6L2CBLN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96ID5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.44–0.86]
RankingsWhere IGSF21 stands among ~20K protein-coding genes
  • #15,286of 20,598
    Most Researched16
  • #7,511of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedIGSF21
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms and diabetic retinopathy of type 2 diabetes mellitus in the Chinese Han population.
PMID: 27607899
J Gene Med · 2016
1.00
2
Single-Nucleus Landscape of Glial Cells and Neurons in Alzheimer's Disease.
PMID: 39153159
Mol Neurobiol · 2025
0.90
3
Alpha-neurexins in health and disease.
PMID: 41333154
Front Mol Neurosci · 2025
0.80
4
IgSF21 promotes differentiation of inhibitory synapses via binding to neurexin2α.
PMID: 28864826
Nat Commun · 2017
0.70
5
Clinicopathological, Genomic, and Transcriptomic Feature Analysis of Primary Adrenal Large B-cell Lymphoma: Insights Into Immune-privileged Sites.
PMID: 40485393
Am J Surg Pathol · 2025
0.60