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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DMBX1
diencephalon/mesencephalon homeobox 1
Chromosome 1 · 1p33
NCBI Gene: 127343Ensembl: ENSG00000197587.13HGNC: HGNC:19026UniProt: Q8NFW5
14PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingdevelopmental growthnucleuschromatinpreeclampsiaStrabismusHypermetropiaSeizure
✦AI Summary

DMBX1 (diencephalon/mesencephalon homeobox 1) is a paired-class homeodomain transcription factor that functions as a transcriptional repressor 1. It forms heterodimers with OTX2 on specific DNA sequences to repress OTX2-mediated transactivation, particularly of p21, thereby regulating cell cycle progression 1. During embryonic development, DMBX1 is expressed in the anterior head folds and becomes restricted to the caudal diencephalon and mesencephalon neuroepithelium, serving as a marker of developing anterior nervous system 2. In normal physiology, DMBX1 plays essential roles in energy homeostasis and feeding behavior 34. Adult DMBX1 expression in the lateral parabrachial nucleus is required for agouti-related peptide's long-lasting orexigenic effects, with Dmbx1 knockout mice exhibiting severe leanness, hypophagia, and hyperactivity 34. Clinically, DMBX1 has emerged as an oncogenic factor across multiple cancers. It is overexpressed in lung adenocarcinoma, hepatocellular carcinoma, and colon cancer, correlating with poorer prognosis and advanced clinicopathological features 156. DMBX1 knockdown inhibits cancer cell proliferation, migration, and invasion while suppressing epithelial-mesenchymal transition markers 56. DMBX1 has been identified as a disease gene in autosomal recessive neurological disorders 78.

Sources cited
1
DMBX1 represses OTX2-mediated transcription of p21 to promote tumor proliferation and G1/S cell cycle progression in lung adenocarcinoma
PMID: 30928384
2
DMBX1 is a paired-like homeobox gene expressed during early mouse embryogenesis in anterior head folds and develops with caudal diencephalon and mesencephalon
PMID: 11744391
3
Dmbx1-deficient mice exhibit severe leanness, hypophagia, and hyperactivity; DMBX1 is essential for agouti-related protein action in energy homeostasis
PMID: 17873059
4
Adult DMBX1 in lateral parabrachial nucleus is required for long-lasting orexigenic effects of agouti-related peptide in energy homeostasis
PMID: 26505115
5
DMBX1 overexpression in hepatocellular carcinoma correlates with metastasis, poor prognosis, and promotes EMT; DMBX1 knockdown inhibits migration and proliferation
PMID: 33524552
6
DMBX1 is highly expressed in colon cancer with poor prognostic significance; high DMBX1 promotes EMT, invasion and migration through regulation of epithelial-mesenchymal transition markers
PMID: 41634710
7
DMBX1 is a candidate disease gene for autosomal recessive genetic disorders, confirmed through autozygome analysis
PMID: 30237576
8
DMBX1 is a novel recessive disease gene associated with neurological disorders identified through whole-exome sequencing of consanguineous families
PMID: 25558065
Disease Associationsⓘ20
preeclampsiaOpen Targets
0.31Weak
StrabismusOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
Hearing impairmentOpen Targets
0.26Weak
HypermetropiaOpen Targets
0.26Weak
HypotoniaOpen Targets
0.26Weak
SeizureOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.25Weak
Alzheimer diseaseOpen Targets
0.21Weak
Parkinson diseaseOpen Targets
0.21Weak
multiple sclerosisOpen Targets
0.21Weak
lysosomal storage diseaseOpen Targets
0.21Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
COVID-19Open Targets
0.10Suggestive
breast angiosarcomaOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.08Suggestive
Pathogenic Variants1
NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp)Likely pathogenic
6 conditions
☆☆☆☆2014→ Residue 118
View on ClinVar ↗
Related Genes
NOTOShared pathway50%GSX1Shared pathway50%VAX1Shared pathway50%ZIC2Shared pathway50%EMX2Shared pathway50%EMX1Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
36%
Ovary
18%
Lung
18%
Liver
12%
Heart
0%
Gene Interaction Network
Click a node to explore
DMBX1NOTOGSX1VAX1ZIC2EMX2EMX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NFW5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.12–0.41]
RankingsWhere DMBX1 stands among ~20K protein-coding genes
  • #15,847of 20,598
    Most Researched14
  • #5,442of 5,498
    Most Pathogenic Variants1
  • #2,074of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedDMBX1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med · 2019
1.00
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID: 25558065
Cell Rep · 2015
0.90
3
DMBX1 expression in colon cancer and its impact on prognosis and the tumor microenvironment.
PMID: 41634710
BMC Med Genomics · 2026
0.80
4
Roles of diencephalon/mesencephalon homeobox 1 in the development and prognosis of hepatocellular carcinoma.
PMID: 33524552
Ann Hepatol · 2021
0.70
5
DMBX1 promotes tumor proliferation and regulates cell cycle progression via repressing OTX2-mediated transcription of p21 in lung adenocarcinoma cell.
PMID: 30928384
Cancer Lett · 2019
0.60