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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BARHL2
BarH like homeobox 2
Chromosome 1 · 1p22.2
NCBI Gene: 343472Ensembl: ENSG00000143032.8HGNC: HGNC:954UniProt: Q9NY43
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II transcription regulatory region sequence-specific DNA bindingsmoking initiationAbnormality of the skeletal systemalcohol drinkingrisk-taking behaviour
✦AI Summary

BARHL2 (BarH like homeobox 2) is a homeodomain-containing transcription factor that plays crucial roles in neural development and cell fate specification. In the developing brain, BARHL2 functions downstream of orthodentricle-2 (otx2) and cooperates with iroquois-3 (irx3) to establish the Zona limitans intrathalamica (ZLI), a signaling center that secretes Sonic Hedgehog to control caudal forebrain growth and regionalization 1. The gene is essential for ZLI and thalamus fate determination within the p2 alar plate 1. In retinal development, BARHL2 acts as both a positive and negative regulator, specifically promoting glycinergic amacrine cell differentiation while inhibiting bipolar and Müller glial cell formation 2. The protein exhibits sequence-specific DNA binding activity and regulates transcription by RNA polymerase II. BARHL2 also contributes to neural progenitor survival and proliferation control through interactions with apoptotic machinery, particularly caspase-3 3. In disease contexts, BARHL2 shows clinical relevance as a hypermethylated gene in astrocytomas 4 and appears in novel fusion events in lung cancer patients, with potential therapeutic implications 5.

Sources cited
1
BARHL2 acts downstream of otx2 and with irx3 in ZLI formation and is required for ZLI and thalamus fate determination
PMID: 25281935
2
BARHL2 promotes glycinergic amacrine cell differentiation while inhibiting bipolar and Müller glial cell formation in retinal development
PMID: 14998930
3
BARHL2 contributes to neural progenitor survival and proliferation control through interactions with caspase-3
PMID: 25619400
4
BARHL2 is hypermethylated in astrocytomas
PMID: 20233874
5
BARHL2 appears in novel fusion events (BARHL2-APC) in lung cancer with potential therapeutic implications
PMID: 39011998
Disease Associationsⓘ20
smoking initiationOpen Targets
0.51Moderate
Abnormality of the skeletal systemOpen Targets
0.51Moderate
alcohol drinkingOpen Targets
0.49Moderate
risk-taking behaviourOpen Targets
0.48Moderate
mathematical abilityOpen Targets
0.46Moderate
cannabis dependenceOpen Targets
0.46Moderate
intelligenceOpen Targets
0.43Moderate
HypermetropiaOpen Targets
0.43Moderate
smoking cessationOpen Targets
0.41Moderate
substance-related disorderOpen Targets
0.41Moderate
opioid use disorderOpen Targets
0.40Moderate
health study participationOpen Targets
0.39Weak
attention deficit hyperactivity disorderOpen Targets
0.34Weak
substance abuseOpen Targets
0.34Weak
Abnormality of refractionOpen Targets
0.34Weak
refractive errorOpen Targets
0.34Weak
schizophreniaOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.34Weak
smoking behaviorOpen Targets
0.32Weak
obesityOpen Targets
0.32Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXB2Shared pathway100%MOBPShared pathway100%SCRG1Shared pathway100%IRF2BPLShared pathway100%NRSN2Shared pathway100%GNG8Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
4%
Lung
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
BARHL2HOXB2MOBPSCRG1IRF2BPLNRSN2GNG8
PROTEIN STRUCTURE
Preparing viewer…
PDB8PMF · 0.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.62Intermediate
Observed/Expected LoF0.37 [0.23–0.63]
RankingsWhere BARHL2 stands among ~20K protein-coding genes
  • #17,270of 20,598
    Most Researched9
  • #4,445of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedBARHL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The conserved barH-like homeobox-2 gene barhl2 acts downstream of orthodentricle-2 and together with iroquois-3 in establishment of the caudal forebrain signaling center induced by Sonic Hedgehog.
PMID: 25281935
Dev Biol · 2014
1.00
2
Role of the Barhl2 homeobox gene in the specification of glycinergic amacrine cells.
PMID: 14998930
Development · 2004
0.90
3
Fusion Genes Landscape of Lung Cancer Patients From Inner Mongolia, China.
PMID: 39011998
Genes Chromosomes Cancer · 2024
0.80
4
Combination of artificial intelligence-based endoscopy and miR148a methylation for gastric indefinite dysplasia diagnosis.
PMID: 34811809
J Clin Lab Anal · 2022
0.70
5
Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS.
PMID: 10814725
Hum Mol Genet · 2000
0.60