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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ISL2
ISL LIM homeobox 2
Chromosome 15 · 15q24.3
NCBI Gene: 64843Ensembl: ENSG00000159556.10HGNC: HGNC:18524UniProt: Q96A47
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingDNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificneurodegenerative diseaseMeniere diseasediverticular diseasesmoking cessation
✦AI Summary

ISL2 is a LIM-homeodomain transcription factor that functions as a critical regulator of neuronal development and differentiation. Structurally, ISL2 contains two tandem LIM domains involved in protein-protein interactions and a DNA-binding homeodomain that enables sequence-specific DNA binding 1. In the developing spinal cord, ISL2 defines motor neuron subclasses and organizes motor pool positioning by restricting specific motor neuronal fates 2. Deletion of Isl2 results in motor pool dispersion, reduced axon branching, disorganized neuromuscular junctions, and impaired sensorimotor connectivity and locomotion 2. ISL2 also plays developmental roles in retinal cell differentiation, appearing in outer nuclear layer photoreceptors, inner nuclear layer cells, and ganglion cells during retinal lamination 3. Beyond development, ISL2 has emerged as a putative tumor suppressor in pancreatic ductal adenocarcinoma, where epigenetic silencing through DNA methylation correlates with poor patient survival 4. Conversely, ISL2 functions as an oncogenic factor in gliomas, where elevated expression promotes angiogenesis through transcriptional activation of ANGPT2 and VEGFA, driving oligodendroglioma malignant transformation 56. ISL2 participates in a feedback regulatory loop with U2AF2, circRNA ARF1, and miR-342-3p that promotes glioma angiogenesis 6. These findings indicate ISL2 has context-dependent roles in development and disease, representing both a potential therapeutic target and developmental biomarker.

Sources cited
1
ISL2 structure contains two tandem LIM domains and homeodomain; expressed broadly across embryonic and adult tissues
PMID: 17091338
2
ISL2 organizes motor pool positioning and sensorimotor circuit connectivity; deletion causes motor pool dispersion and impaired locomotion
PMID: 37869988
3
ISL2 expressed during retinal development in outer nuclear layer, inner nuclear layer, and ganglion cell layer
PMID: 16864127
4
ISL2 acts as putative tumor suppressor in pancreatic cancer; epigenetically silenced with high promoter methylation correlating with poor survival
PMID: 35508175
5
ISL2 promotes oligodendroglioma malignant transformation by regulating ANGPT2 transcription to enhance angiogenesis
PMID: 32753650
6
ISL2 participates in U2AF2/circRNA ARF1/miR-342-3p feedback loop promoting glioma angiogenesis via VEGFA-mediated ERK signaling
PMID: 32894165
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
Meniere diseaseOpen Targets
0.26Weak
diverticular diseaseOpen Targets
0.16Weak
smoking cessationOpen Targets
0.15Weak
sleep apneaOpen Targets
0.14Weak
meningitisOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
inflammatory bowel diseaseOpen Targets
0.08Suggestive
breast benign neoplasmOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
obstructive sleep apneaOpen Targets
0.06Suggestive
viral eye infectionOpen Targets
0.06Suggestive
amyotrophic lateral sclerosisOpen Targets
0.06Suggestive
liver diseaseOpen Targets
0.06Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
cleft palateOpen Targets
0.05Suggestive
pericarditisOpen Targets
0.04Suggestive
rheumatic diseaseOpen Targets
0.04Suggestive
Lumbar hyperlordosisOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LDB1Protein interaction97%SSBP2Protein interaction97%SSBP3Protein interaction97%LHX4Protein interaction97%LMO4Protein interaction85%IDI2Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Lung
14%
Bone Marrow
13%
Liver
3%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ISL2LDB1SSBP2SSBP3LHX4LMO4IDI2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96A47
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.38–0.90]
RankingsWhere ISL2 stands among ~20K protein-coding genes
  • #12,169of 20,598
    Most Researched29
  • #8,131of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedISL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cloning and analysis of axolotl ISL2 and LHX2 LIM-homeodomain transcription factors.
PMID: 15048808
Genesis · 2004
1.00
2
ISL2 is a putative tumor suppressor whose epigenetic silencing reprograms the metabolism of pancreatic cancer.
PMID: 35508175
Dev Cell · 2022
0.90
3
ISL2 modulates angiogenesis through transcriptional regulation of ANGPT2 to promote cell proliferation and malignant transformation in oligodendroglioma.
PMID: 32753650
Oncogene · 2020
0.80
4
Transcriptional control of motor pool formation and motor circuit connectivity by the LIM-HD protein Isl2.
PMID: 37869988
Elife · 2023
0.70
5
Cloning and expression of a novel human gene, Isl-2, encoded a LIM-homeodomain protein.
PMID: 17091338
Mol Biol Rep · 2007
0.60