HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ISL1
ISL LIM homeobox 1
Chromosome 5 · 5q11.1
NCBI Gene: 3670Ensembl: ENSG00000016082.16HGNC: HGNC:6132UniProt: P61371
127PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cardiac cell fate determinationsequence-specific double-stranded DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingbHLH transcription factor bindingneurodegenerative diseaserisk-taking behaviourbladder exstrophycongenital heart disease
✦AI Summary

ISL1 (ISL LIM homeobox 1) is a DNA-binding transcriptional activator that recognizes the octamer consensus sequence 5'-ATAATTAA-3' in target gene promoters. Beyond its established roles in retinal ganglion cell differentiation and motor neuron specification, ISL1 functions as a critical regulator of cardiac development and tissue repair. During cardiogenesis, ISL1 marks progenitor populations giving rise to the outflow tract, right ventricle, and atrial cells, controlling FGF and BMP expression essential for cardiac progenitor proliferation, survival, and migration 1. Post-myocardial infarction, ISL1 cooperates with GATA5 in fibroblasts to promote cardiomyocyte transformation via Wnt pathway regulation, ameliorating cardiac dysfunction and fibrosis 2. EphrinB2-mediated CDK5 activation enhances ISL1 nuclear translocation, driving cardiac lymphangiogenesis and reducing post-MI inflammation through VEGFR3 regulation 3. In germ cell development, ISL1 functions in amniotic ectoderm-like cells to induce primordial germ cell-like cell specification through paracrine signaling 4. Clinically, ISL1 variants are associated with congenital heart defects: genome-wide association studies identified ISL1 as the primary susceptibility locus for bladder exstrophy 5, while promoter variants reduce transcriptional activity in atrial septal defect patients 6. These findings establish ISL1 as a multifunctional developmental regulator with therapeutic potential for cardiac and urogenital conditions.

Sources cited
1
ISL1 is a core cardiac transcription factor involved in complex regulatory networks governing cardiac development
PMID: 38884718
2
GATA5/ISL1+ fibroblasts promote cardiomyocyte transformation and cardiac repair post-MI via Wnt signaling regulation
PMID: 40460294
3
EphrinB2 activates CDK5-dependent ISL1 nuclear translocation to enhance cardiac lymphangiogenesis and reduce post-MI inflammation through VEGFR3 regulation
PMID: 39557830
4
ISL1 functions in amniotic ectoderm-like cells to induce primordial germ cell-like cell specification through paracrine signaling
PMID: 38167821
5
ISL1 is the genome-wide significant susceptibility gene for bladder exstrophy, with expression in peri-cloacal mesenchyme during critical developmental windows
PMID: 25763902
6
ISL1 promoter variants significantly decrease transcriptional activity and are associated with atrial septal defects in humans
PMID: 36170181
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
risk-taking behaviourOpen Targets
0.43Moderate
bladder exstrophyOpen Targets
0.42Moderate
congenital heart diseaseOpen Targets
0.41Moderate
Umbilical herniaOpen Targets
0.39Weak
diabetes mellitusOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.35Weak
hemorrhoidOpen Targets
0.32Weak
attention deficit hyperactivity disorderOpen Targets
0.31Weak
substance abuseOpen Targets
0.30Weak
male reproductive organ cancerOpen Targets
0.28Weak
smoking initiationOpen Targets
0.26Weak
insomniaOpen Targets
0.25Weak
non-alcoholic fatty liver diseaseOpen Targets
0.22Weak
Barrett's esophagusOpen Targets
0.21Weak
HypocalcemiaOpen Targets
0.21Weak
injuryOpen Targets
0.21Weak
complicationOpen Targets
0.20Weak
medical procedureOpen Targets
0.20Weak
obesityOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LHX3Protein interaction100%LDB1Protein interaction100%LHX4Protein interaction98%LDB2Protein interaction97%SSBP2Protein interaction90%POU4F2Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Ovary
0%
Lung
0%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ISL1LHX3LDB1LHX4LDB2SSBP2POU4F2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P61371
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.09 [0.04–0.23]
RankingsWhere ISL1 stands among ~20K protein-coding genes
  • #3,692of 20,598
    Most Researched127 · top quartile
  • #669of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedISL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
EphrinB2-mediated CDK5/ISL1 pathway enhances cardiac lymphangiogenesis and alleviates ischemic injury by resolving post-MI inflammation.
PMID: 39557830
Signal Transduct Target Ther · 2024
1.00
2
The emergence of human primordial germ cell-like cells in stem cell-derived gastruloids.
PMID: 40138398
Sci Adv · 2025
0.90
3
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
PMID: 25763902
PLoS Genet · 2015
0.80
4
Single-cell epigenomic and transcriptomic analysis unveils the pivotal role of GATA5/ISL1+ fibroblasts in cardiac repair post-myocardial infarction.
PMID: 40460294
Cardiovasc Res · 2025
0.70
5
Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects.
PMID: 36170181
J Gene Med · 2022
0.60