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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IGSF23
immunoglobulin superfamily member 23
Chromosome 19 Β· 19q13.31
NCBI Gene: 147710Ensembl: ENSG00000216588.10HGNC: HGNC:40040UniProt: A1L1A6
3PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
osteoclast differentiationplasma membranehomophilic cell-cell adhesionheterophilic cell-cell adhesionneurodegenerative diseasemetabolic diseasehyperlipidemiaalcohol drinking
✦AI Summary

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.

Sources cited
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: 31560140
2
IGSF23 identified as tumor mutation burden-related gene in a disease-free survival prognostic model for epithelial ovarian cancer
PMID: 33173439
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜16
neurodegenerative diseaseOpen Targets
0.45Moderate
metabolic diseaseOpen Targets
0.39Weak
hyperlipidemiaOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.26Weak
malunion fractureOpen Targets
0.10Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
COVID-19Open Targets
0.04Suggestive
osteopetrosisOpen Targets
0.03Suggestive
multiple sclerosisOpen Targets
0.02Suggestive
osteoporosisOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
relapsing-remitting multiple sclerosisOpen Targets
0.01Suggestive
autosomal recessive osteopetrosisOpen Targets
0.00Suggestive
Tetralogy of FallotOpen Targets
0.00Suggestive
LeishmaniasisOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CEACAM19Shared pathway67%CADM3Shared pathway67%CEACAM18Shared pathway67%PSG5Shared pathway50%PSG11Shared pathway50%CEACAM8Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
1%
Brain
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
IGSF23CEACAM19CADM3CEACAM18PSG5PSG11CEACAM8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A1L1A6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.22LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.48–1.22]
RankingsWhere IGSF23 stands among ~20K protein-coding genes
  • #18,877of 20,598
    Most Researched3
  • #12,886of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedIGSF23
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Multi-omics analysis of tumor mutational burden combined with prognostic assessment in epithelial ovarian cancer based on TCGA database.
PMID: 33173439
Int J Med Sci Β· 2020
1.00
2
Osteoclastogenesis inhibition by mutated IGSF23 results in human osteopetrosis.
PMID: 31560140
Cell Prolif Β· 2019
0.50