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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IGSF5
immunoglobulin superfamily member 5
Chromosome 21 · 21q22.2
NCBI Gene: 150084Ensembl: ENSG00000183067.6HGNC: HGNC:5952UniProt: Q9NSI5
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell-cell adhesionbicellular tight junctioncell surfacebreast cancerkidney diseasecardiac arrestinfluenza
✦AI Summary

IGSF5 (immunoglobulin superfamily member 5) is a cell adhesion molecule that functions primarily in tight junction formation and cell-cell adhesion. The protein mediates calcium-independent homophilic cell adhesion and, together with MAGI1, provides an adhesion machinery at tight junctions that may regulate permeability in kidney glomerulus and small intestinal epithelial cells [UniProt annotation]. IGSF5 expression appears to have protective roles in multiple disease contexts. In colorectal cancer, genetic variants near IGSF5 are associated with advanced adenoma risk, with five variants in strong linkage disequilibrium located in or near the IGSF5 coding region showing significant association with advanced adenoma development 1. In head and neck squamous cell carcinoma, IGSF5 shows low expression, and overexpression significantly impairs cancer cell proliferation, suggesting a tumor suppressive function 2. The gene is also associated with asthma susceptibility, particularly in obese African American patients 3. Additionally, IGSF5 expression appears linked to cognitive health, as it may mediate associations between healthy dietary patterns and reduced dementia risk 4. Promoter polymorphisms in IGSF5 can significantly alter transcriptional activity, indicating functional genetic variation 5.

Sources cited
1
Genetic variants near IGSF5 are associated with advanced colorectal adenoma risk
PMID: 24084763
2
IGSF5 has low expression in head and neck squamous cell carcinoma and overexpression impairs cancer cell proliferation
PMID: 33506058
3
IGSF5 is associated with asthma susceptibility in obese African American patients
PMID: 35524249
4
IGSF5 expression may mediate associations between healthy dietary patterns and reduced dementia risk
PMID: 39129336
5
Promoter polymorphisms in IGSF5 can significantly alter transcriptional activity
PMID: 15200235
Disease Associationsⓘ20
breast cancerOpen Targets
0.33Weak
kidney diseaseOpen Targets
0.31Weak
cardiac arrestOpen Targets
0.28Weak
influenzaOpen Targets
0.17Weak
mixed connective tissue diseaseOpen Targets
0.11Weak
disorder of earOpen Targets
0.09Suggestive
Abnormal thrombosisOpen Targets
0.09Suggestive
allergic diseaseOpen Targets
0.09Suggestive
respiratory system diseaseOpen Targets
0.09Suggestive
bilirubin metabolism diseaseOpen Targets
0.09Suggestive
thrombophiliaOpen Targets
0.06Suggestive
frozen shoulderOpen Targets
0.05Suggestive
brain cancerOpen Targets
0.04Suggestive
systemic lupus erythematosusOpen Targets
0.03Suggestive
eye diseaseOpen Targets
0.03Suggestive
nervous system cancerOpen Targets
0.03Suggestive
smoking initiationOpen Targets
0.03Suggestive
COVID-19Open Targets
0.03Suggestive
hypertrophic cardiomyopathyOpen Targets
0.03Suggestive
head and neck squamous cell carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LPPShared pathway100%IGDCC3Shared pathway100%TRIM29Shared pathway100%FBLIM1Shared pathway100%VEZTShared pathway100%TMEM47Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
7%
Ovary
6%
Liver
1%
Bone Marrow
1%
Lung
0%
Gene Interaction Network
Click a node to explore
IGSF5LPPIGDCC3TRIM29FBLIM1VEZTTMEM47
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NSI5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.47LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.08 [0.81–1.47]
RankingsWhere IGSF5 stands among ~20K protein-coding genes
  • #16,191of 20,598
    Most Researched13
  • #14,969of 17,882
    Most Constrained (LOEUF)1.47
Genes detectedIGSF5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The MIND diet, brain transcriptomic alterations, and dementia.
PMID: 39129336
Alzheimers Dement · 2024
1.00
2
Novel Methods of Risk Stratifying Patients for Metachronous, Pre-Malignant Colorectal Polyps: A Systematic Review.
PMID: 34246774
Crit Rev Oncol Hematol · 2021
0.90
3
Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy.
PMID: 33170561
Am J Med Genet A · 2021
0.80
4
Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study.
PMID: 24084763
Clin Cancer Res · 2013
0.70
5
Identification of Immune-Related Prognostic Biomarkers Associated with HPV-Positive Head and Neck Squamous Cell Carcinoma.
PMID: 33506058
J Immunol Res · 2021
0.60