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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HMGXB4
HMG-box containing 4
Chromosome 22 · 22q12.3
NCBI Gene: 10042Ensembl: ENSG00000100281.15HGNC: HGNC:5003UniProt: Q7Z641
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingNURF complexnegative regulation of Wnt signaling pathwayulcerative colitisinflammatory bowel diseasesensory perception of smelltype 2 diabetes mellitus
✦AI Summary

HMGXB4 (also known as HMG2L1) is a non-histone DNA-binding protein containing a single HMG-box domain that functions as a negative regulator of Wnt/β-catenin signaling 1. In smooth muscle cells, HMGXB4 represses smooth muscle-specific gene expression by disrupting myocardin-serum response factor interactions, thereby inhibiting myocardin-induced activation of differentiation markers 2. The protein also regulates transcriptional activity of transposable elements and is itself subject to feedback regulation by transposase 3. In hematopoietic contexts, HMGXB4 loss-of-function has cell-type specific effects: copy number loss and transcriptional downregulation of HMGXB4 in primary myelofibrosis patients correlates with megakaryocyte hyperplasia, as HMGXB4 silencing promotes megakaryocyte differentiation while inhibiting erythroid development 4. Dental pulp fibroblast-derived exosomes contain regulatory axes involving miR-493-5p targeting HMGXB4, linking the protein to mesenchymal stem cell-associated molecular programs 5. Clinically, biallelic frameshift mutations in HMGXB4 cause intellectual disability, global developmental delay, and dysmorphic facial features, establishing a neurodevelopmental role 1. Genetic association studies suggest HMGXB4 variants may contribute to psychotic bipolar affective disorder, consistent with its role in Wnt signaling pathways targeted by psychiatric medications 6.

Sources cited
1
HMGXB4 is a non-histone DNA-binding protein with HMG-box domain that negatively regulates Wnt/β-catenin signaling; biallelic mutations cause intellectual disability and developmental delay
PMID: 39166056
2
HMGXB4 represses smooth muscle differentiation by disrupting myocardin-SRF interactions
PMID: 20511232
3
HMGXB4 upregulates transcription from transposon UTRs and is subject to feedback regulation by transposase
PMID: 18071335
4
HMGXB4 copy number loss in primary myelofibrosis correlates with megakaryocyte hyperplasia; HMGXB4 silencing promotes megakaryocyte while inhibiting erythroid differentiation
PMID: 26547506
5
miR-493-5p targets HMGXB4 in dental pulp fibroblast exosomes associated with mesenchymal stem cell-like features
PMID: 41521291
6
HMGXB4 variants show genetic association with psychotic bipolar affective disorder; protein is negative regulator of Wnt signaling pathway
PMID: 17671966
Disease Associationsⓘ20
ulcerative colitisOpen Targets
0.29Weak
inflammatory bowel diseaseOpen Targets
0.27Weak
sensory perception of smellOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.09Suggestive
PainOpen Targets
0.08Suggestive
glaucomaOpen Targets
0.03Suggestive
endometriosisOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
hypotrichosis 1Open Targets
0.01Suggestive
Global developmental delayOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
serum lipopolysaccharide activityOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
bipolar disorderOpen Targets
0.01Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
autism spectrum disorderOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BPTFProtein interaction97%SMARCA1Protein interaction97%SMARCA5Protein interaction96%RBBP4Protein interaction96%TOM1Protein interaction93%CECR2Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
38%
Heart
32%
Brain
32%
Lung
26%
Liver
22%
Gene Interaction Network
Click a node to explore
HMGXB4BPTFSMARCA1SMARCA5RBBP4TOM1CECR2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q7Z641
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.36–0.70]
RankingsWhere HMGXB4 stands among ~20K protein-coding genes
  • #8,563of 20,598
    Most Researched52
  • #5,328of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedHMGXB4
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Integrative analysis of copy number and gene expression data suggests novel pathogenetic mechanisms in primary myelofibrosis.
PMID: 26547506
Int J Cancer · 2016
1.00
2
Exosomal miRNA-mRNA interactions highlight MSC-like molecular signatures in dental pulp fibroblasts.
PMID: 41521291
Stem Cell Res Ther · 2026
0.83
3
Biallelic
PMID: 39166056
Heliyon · 2024
0.67
4
Transcriptional activities of the Sleeping Beauty transposon and shielding its genetic cargo with insulators.
PMID: 18071335
Mol Ther · 2008
0.50
5
Repression of smooth muscle differentiation by a novel high mobility group box-containing protein, HMG2L1.
PMID: 20511232
J Biol Chem · 2010
0.33