2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
3PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
osteoclast differentiationplasma membranehomophilic cell-cell adhesionheterophilic cell-cell adhesionneurodegenerative diseasemetabolic diseasehyperlipidemiaalcohol drinking
Based on limited published evidence, IGSF23 is an immunoglobulin superfamily member localized to the plasma membrane with predicted roles in cell-cell adhesion. UniProt annotations suggest involvement in osteoclast differentiation. A homozygous loss-of-function mutation (c.295C>T) causing premature truncation was identified in osteopetrosis patients, resulting in impaired osteoclast differentiation from peripheral blood mononuclear cells 1. Mechanistically, IGSF23 deficiency reduced c-Fos and NFATC1 expression via mitogen-activated protein kinase pathway inhibition 1. Additionally, IGSF23 was identified as a tumor mutation burden-related gene associated with disease-free survival in epithelial ovarian cancer 2.
1
Homozygous IGSF23 mutation causes osteopetrosis through impaired osteoclast differentiation; loss-of-function leads to decreased c-Fos and NFATC1 expression via MAPK pathway inhibition
PMID: 315601402
IGSF23 identified as tumor mutation burden-related gene in a disease-free survival prognostic model for epithelial ovarian cancer
PMID: 33173439β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
metabolic diseaseOpen Targets
hyperlipidemiaOpen Targets
alcohol drinkingOpen Targets
malunion fractureOpen Targets
Crohn's diseaseOpen Targets
osteopetrosisOpen Targets
multiple sclerosisOpen Targets
colorectal cancerOpen Targets
relapsing-remitting multiple sclerosisOpen Targets
autosomal recessive osteopetrosisOpen Targets
Tetralogy of FallotOpen Targets
LeishmaniasisOpen Targets
ovarian serous cystadenocarcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.