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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IGSF9
immunoglobulin superfamily member 9
Chromosome 1 · 1q23.2
NCBI Gene: 57549Ensembl: ENSG00000085552.19HGNC: HGNC:18132UniProt: Q9P2J2
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell-cell adhesion mediator activityhomophilic cell-cell adhesionaxon guidancedendrite self-avoidanceDecreased total leukocyte countconnective tissue diseaseglomerulonephritisneoplasm
✦AI Summary

IGSF9 (immunoglobulin superfamily member 9) is an immunoglobulin superfamily adhesion molecule with a conserved structural organization similar to neural cell adhesion molecules, containing five immunoglobulin domains and two fibronectin type III repeats 1. Developmentally, IGSF9 is expressed in the nervous system from embryonic stages and functions in dendrite outgrowth, axon guidance, synapse maturation, and neuronal self-avoidance 2. The protein mediates homophilic cell-cell adhesion through its extracellular and intracellular domains 2. Beyond neural development, IGSF9 has emerged as a multifunctional protein in cancer biology and metabolism. As a tumor-specific immune checkpoint, IGSF9 is induced by interferon-gamma signaling in acute myeloid leukemia and promotes tumor immune escape by inhibiting T cell activity 3. IGSF9 also promotes tumor invasion and metastasis through GSK-3β/β-catenin-mediated epithelial-to-mesenchymal transition in lung cancer 4, while functioning as a p53 target gene that suppresses breast cancer metastasis via FAK/AKT pathway inhibition 5. Additionally, IGSF9 educates tumor-associated macrophages toward senescence and immunosuppressive phenotypes through TMUB1 binding and IL-6/STAT3 activation 6. Clinically, IGSF9 downregulation associates with lymph node metastasis and poor survival in breast cancer 7, and elevated plasma IGSF9 correlates with liver steatosis and fibrosis in HIV-positive individuals 8.

Sources cited
1
IGSF9 protein structure matches NCAM subfamily with five immunoglobulin domains and two fibronectin type III repeats; expressed in developing nervous system
PMID: 11991715
2
IGSF9 family members function in neurite outgrowth, axon guidance, synapse maturation, self-avoidance, and mediate homophilic cell adhesion
PMID: 23417431
3
IGSF9 is induced by IFN-γ signaling in AML, functions as immune checkpoint promoting tumor escape, and serves as therapeutic target with anti-IGSF9-linker-DXd antibody-drug conjugate
PMID: 40526840
4
IGSF9 promotes tumor invasion and metastasis through GSK-3β/β-catenin mediated EMT in lung cancer
PMID: 39383800
5
IGSF9 is p53 target gene; loss associates with breast cancer metastasis; inhibits metastasis via FAK/AKT pathway
PMID: 36088502
6
IGSF9 binds TMUB1 to activate IL-6/STAT3 signaling and induce tumor-associated macrophage senescence and immunosuppressive phenotype
PMID: 41534903
7
IGSF9 copy-number loss associates with lymph node metastasis and poor prognosis in invasive micropapillary carcinoma
PMID: 35013309
8
IGSF9 identified as differentially expressed protein associated with liver steatosis and fibrosis in HIV-positive individuals across BMI categories
PMID: 39426127
Disease Associationsⓘ20
Decreased total leukocyte countOpen Targets
0.18Weak
connective tissue diseaseOpen Targets
0.17Weak
glomerulonephritisOpen Targets
0.15Weak
neoplasmOpen Targets
0.11Weak
acute myeloid leukemiaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.05Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
histidinemiaOpen Targets
0.04Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
endometrial cancerOpen Targets
0.03Suggestive
steatosisOpen Targets
0.03Suggestive
Acute hepatic failureOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
polyarteritis nodosaOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYPNShared pathway50%EMBShared pathway50%NEXNShared pathway43%CNTN6Shared pathway38%PALLDShared pathway38%ROBO4Shared pathway38%
Tissue Expression6 tissues
Liver
100%
Brain
30%
Bone Marrow
12%
Ovary
2%
Lung
1%
Heart
1%
Gene Interaction Network
Click a node to explore
IGSF9MYPNEMBNEXNCNTN6PALLDROBO4
PROTEIN STRUCTURE
Preparing viewer…
PDB1V5J · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.65–0.92]
RankingsWhere IGSF9 stands among ~20K protein-coding genes
  • #14,717of 20,598
    Most Researched18
  • #8,431of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedIGSF9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
IGSF9 family proteins.
PMID: 23417431
Neurochem Res · 2013
1.00
2
Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.
PMID: 35013309
Nat Commun · 2022
0.90
3
Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system.
PMID: 11991715
Genomics · 2002
0.80
4
IGSF9-targeted therapy inhibits the progression of acute myeloid leukemia.
PMID: 40526840
Blood Adv · 2025
0.70
5
Plasma proteomic signatures of liver steatosis and fibrosis in people living with HIV: a cross-sectional study.
PMID: 39426127
EBioMedicine · 2024
0.60