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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ISX
intestine specific homeobox
Chromosome 22 · 22q12.3
NCBI Gene: 91464Ensembl: ENSG00000175329.14HGNC: HGNC:28084UniProt: Q2M1V0
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingnuclear bodynucleoplasmAlzheimer diseaseBenign Thyroid Gland Neoplasmesophageal adenocarcinomabreast carcinoma
✦AI Summary

ISX (intestine-specific homeobox) is a transcription factor that regulates gene expression in intestinal tissues and plays critical roles in both normal physiology and disease pathogenesis. Primary Function: ISX functions as an IL-6-inducible transcription factor that binds sequence-specific DNA elements to regulate RNA polymerase II-mediated transcription 1. In normal intestinal physiology, ISX regulates carotenoid metabolism by controlling BCO2 expression and SR-B1 regulation in enterocytes, serving as a gatekeeper for dietary carotenoid bioavailability 2. Additionally, ISX influences enteroendocrine cell differentiation pathways 3. Mechanism: ISX mediates transcriptional regulation through protein acetylation-dependent mechanisms; PCAF-mediated acetylation of ISX at lysine 69 recruits BRD4 to promoters of target genes, initiating chr22 remodeling and histone acetylation 4. Disease Relevance: ISX is implicated in multiple malignancies. In hepatocellular carcinoma, ISX orchestrates a feed-forward loop integrating inflammation, tryptophan catabolism, and immune suppression via IDO1-kynurenine-AHR signaling, promoting PD-L1-mediated CD8+ T-cell suppression 15. ISX drives proliferation through cyclin D1 induction 5 and regulates epithelial-mesenchymal transition, promoting metastasis 4. In pancreatic ductal adenocarcinoma and gastric carcinoma, ISX correlates with poor survival and promotes invasiveness and cell proliferation 67. Clinical Significance: ISX expression negatively correlates with patient survival across multiple cancer types and represents a potential therapeutic target 16.

Sources cited
1
ISX is IL-6-inducible and mediates positive feedback loop integrating inflammation, tryptophan catabolism, and immune suppression through IDO1-kynurenine-AHR-PD-L1 axis in hepatocellular carcinoma
PMID: 28625979
2
ISX exhibits tumor-specific expression, correlates with survival and tumor progression, and regulates cyclin D1 to promote hepatoma cell proliferation
PMID: 23221382
3
ISX expression correlates with poor PDAC survival and regulates invasiveness, VEGF, MMP2, and NFκB activation
PMID: 31174057
4
ISX-9 affects enteroendocrine cell differentiation in intestinal organoids through endocrine progenitor regulation
PMID: 32180555
5
ISX-9 promotes KGF secretion from mesenchymal stem cells through NGFR-ERK-TAU-β-catenin signaling
PMID: 38159248
6
PCAF-mediated acetylation of ISX at lysine 69 recruits BRD4 to promote epithelial-mesenchymal transition and metastasis
PMID: 31908141
7
ISX is induced by Helicobacter pylori infection and promotes intestinal metaplasia and gastric cell proliferation through CDX1/2 and cyclin D1
PMID: 26872890
8
ISX regulates carotenoid bioavailability by controlling SR-B1 expression in intestinal enterocytes; genetic deletion of ISX enhances zeaxanthin tissue accumulation
PMID: 37225015
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.28Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.19Weak
esophageal adenocarcinomaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.18Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.18Weak
breast ductal adenocarcinomaOpen Targets
0.18Weak
cecum adenocarcinomaOpen Targets
0.18Weak
central nervous system primitive neuroectodermal neoplasmOpen Targets
0.18Weak
chronic lymphocytic leukemiaOpen Targets
0.18Weak
cutaneous melanomaOpen Targets
0.18Weak
gastric carcinomaOpen Targets
0.18Weak
gastrointestinal stromal tumorOpen Targets
0.18Weak
HER2 Positive Breast CarcinomaOpen Targets
0.18Weak
lentigo maligna melanomaOpen Targets
0.18Weak
melanomaOpen Targets
0.18Weak
skin basal cell carcinomaOpen Targets
0.18Weak
skin squamous cell carcinomaOpen Targets
0.18Weak
superficial spreading melanomaOpen Targets
0.18Weak
urinary bladder carcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ALX3Shared pathway100%DRGXShared pathway100%ARXShared pathway100%BCO1Protein interaction99%SCARB1Protein interaction80%HS6ST1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
6%
Liver
6%
Lung
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ISXALX3DRGXARXBCO1SCARB1HS6ST1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2M1V0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.44LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.55–1.44]
RankingsWhere ISX stands among ~20K protein-coding genes
  • #13,936of 20,598
    Most Researched21
  • #14,761of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedISX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Intestine-Specific Homeobox Gene
PMID: 28625979
Cancer Res · 2017
1.00
2
Proinflammatory homeobox gene, ISX, regulates tumor growth and survival in hepatocellular carcinoma.
PMID: 23221382
Cancer Res · 2013
0.90
3
Characterization of Novel Murine and Human PDAC Cell Models: Identifying the Role of Intestine Specific Homeobox Gene ISX in Hypoxia and Disease Progression.
PMID: 31174057
Transl Oncol · 2019
0.80
4
ISX-9 manipulates endocrine progenitor fate revealing conserved intestinal lineages in mouse and human organoids.
PMID: 32180555
Mol Metab · 2020
0.70
5
ISX-9 Promotes KGF Secretion From MSCs to Alleviate ALI Through NGFR-ERK-TAU-β-Catenin Signaling Axis.
PMID: 38159248
Stem Cells Transl Med · 2024
0.60