Target intelligence / Profile preview

Immunoglobulin superfamily member 5 (IGSF5)

Target
IGSF5
Molecular classification
Immunoglobulin superfamily, Adhesion molecule, Tight junction-associated protein
01

Overview

Immunoglobulin superfamily member 5 (IGSF5) is a cell–cell adhesion molecule that localizes to tight junctions in epithelial and endothelial tissues, working with other proteins such as MAGI1 to regulate barrier permeability in organs like the kidney and intestine[2][3][4][7]. IGSF5 mediates calcium-independent homophilic interactions and plays a crucial role in maintaining epithelial barrier integrity[1][2][3][4][7]. In the testis, it may function as a more general adhesion molecule important for spermatogonia and Sertoli cell interactions[3][4]. Genetic variation in IGSF5 is associated with altered transcriptional activity and potentially with phenotypic variability in some developmental disorders[1]. IGSF5 has been implicated as an immune-related prognostic biomarker in head and neck squamous cell carcinoma and associated with other conditions including pseudo-TORCH syndrome 1 and autism spectrum disorder[1][3][4]. While its detailed mechanism and interacting partners are still being characterized, disruption of IGSF5 function can influence intercellular adhesion and tissue integrity, impacting both developmental and disease processes[1][2][3][4].

Other names
JAM4Junctional adhesion molecule 4IgSF5GSF5IGSF5phIGSF5Q9NSI5
02

Biological functions

Cell–cell adhesionMaintenance of epithelial barrier integrityRegulation of permeability (especially in kidney glomerulus and intestinal epithelium)Formation of bicellular tight junctionsCalcium-independent homophilic adhesion
03

Disease associations

Cancer (notably, head and neck squamous cell carcinoma)[1]Developmental/neurodevelopmental disorders (e.g., features seen in 21q22.2 deletions)[1]Pseudo-TORCH syndrome 1[4]Autism spectrum disorder[4]
04

Biomarkers

Prognostic gene in head and neck squamous cell carcinoma[1]

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