HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HMGB1
high mobility group box 1
Chromosome 13 Β· 13q12.3
NCBI Gene: 3146Ensembl: ENSG00000189403.15HGNC: HGNC:4983UniProt: B7Z965
1,499PubMed Papers
20Diseases
1Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical Trials
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIT-helper 1 cell differentiationpositive regulation of interleukin-1 productionpositive regulation of interleukin-10 productionandrogenetic alopeciatype 2 diabetes mellitussmoking initiationbrachyphalangy, polydactyly, and tibial aplasia/hypoplasia
✦AI Summary

HMGB1 is a nonhistone chr13 protein with dual roles as both a nuclear DNA-binding transcription factor and an extracellular damage-associated molecular pattern (DAMP) 1. Intracellularly, HMGB1 regulates autophagy and apoptosis balance during cancer progression and therapy through subcellular localization and oxidative state-dependent mechanisms 2. Upon cell activation or death, HMGB1 translocates to the extracellular space where it functions as an alarmin, binding pattern recognition receptors TLR2, TLR4, and RAGE to mediate innate immune responses 1. HMGB1 is released by ferroptotic cells in an autophagy-dependent manner through HDAC inhibition-mediated acetylation, triggering AGER-dependent macrophage inflammation 3. In disease contexts, HMGB1 drives macrophage pyroptosis in chr13 endometritis and intestinal inflammation through PARP1-induced secretion 45. Elevated HMGB1 serves as a critical biomarker in autoimmune diseases including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease 1. In non-alcoholic fatty liver disease, cytoplasmic HMGB1 accumulation promotes lipophagy and lipid catabolism 6. Platelet HMGB1 regulates thromboinflammatory responses and vascular remodeling 7. HMGB1 inhibition shows therapeutic promise across multiple inflammatory and malignant conditions, establishing it as an emerging therapeutic target.

Sources cited
1
HMGB1 coordinates autophagy and apoptosis in cancer, regulated by subcellular localization, oxidative state, and binding partners
PMID: 38007142
2
HMGB1 is released by ferroptotic cells in autophagy-dependent manner; autophagy-mediated HDAC inhibition promotes HMGB1 acetylation; AGER required for HMGB1-mediated inflammation
PMID: 30686534
3
HMGB1 translocates extracellularly during cell activation/death; binds TLR2, TLR4, and RAGE; elevated in multiple sclerosis, rheumatoid arthritis, inflammatory bowel disease, lupus, vitiligo
PMID: 40308590
4
Cytoplasmic HMGB1 translocation from nucleus induces lipophagy in NAFLD; RNF186 ubiquitinates HMGB1 for proteasomal degradation
PMID: 38158076
5
HMGB1 regulates inflammation, genome stability, immune function, cell proliferation, autophagy, metabolism, and apoptosis in cancer
PMID: 37757902
6
HMGB1 induces macrophage pyroptosis in chronic endometritis; HMGB1 inhibition suppresses pyroptosis and inflammation
PMID: 37541110
7
Platelet HMGB1 regulates thromboinflammatory responses and microvascular remodeling; serves as biomarker for thrombotic and microvascular disease
PMID: 39173879
8
PARP1 activation promotes HMGB1 acetylation and secretion in intestinal inflammation; PARP1 inhibition reduces HMGB1 release in colitis
PMID: 37108260
Disease Associationsβ“˜20
androgenetic alopeciaOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.45Moderate
smoking initiationOpen Targets
0.42Moderate
brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaOpen Targets
0.42Moderate
goutOpen Targets
0.38Weak
inborn error of immunityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
metabolic syndromeOpen Targets
0.35Weak
obesityOpen Targets
0.35Weak
DNA methylationOpen Targets
0.35Weak
liver diseaseOpen Targets
0.33Weak
Neurodevelopmental disorderOpen Targets
0.30Weak
COVID-19Open Targets
0.29Weak
chronic kidney diseaseOpen Targets
0.28Weak
Crohn's diseaseOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.25Weak
amyotrophic lateral sclerosisOpen Targets
0.25Weak
ovarian neoplasmOpen Targets
0.24Weak
celiac diseaseOpen Targets
0.24Weak
genetic disorderOpen Targets
0.18Weak
Pathogenic Variants6
NM_002128.7(HMGB1):c.551_554del (p.Lys184fs)Pathogenic
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
β˜…β˜†β˜†β˜†2026β†’ Residue 184
NM_002128.7(HMGB1):c.466G>T (p.Glu156Ter)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 156
NM_002128.7(HMGB1):c.220_221del (p.Glu74fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 74
NM_002128.7(HMGB1):c.47_48del (p.Tyr16fs)Likely pathogenic
HMGB1-associated disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 16
NM_002128.7(HMGB1):c.406_407del (p.Thr136fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 136
NM_002128.7(HMGB1):c.556_559del (p.Glu186fs)Pathogenic
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
β˜†β˜†β˜†β˜†2022β†’ Residue 186
View on ClinVar β†—
Drug Targets1
CD24FCPhase III
Heat shock 70 kDa protein 1A/1B inhibitor
Related Genes
TP53Protein interaction100%TLR6Protein interaction100%GSDMEProtein interaction100%CD24Protein interaction100%S100BProtein interaction100%TLR2Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
66%
Ovary
45%
Lung
40%
Liver
39%
Heart
22%
Gene Interaction Network
Click a node to explore
HMGB1TP53TLR6GSDMECD24S100BTLR2
PROTEIN STRUCTURE
Preparing viewer…
PDB9CG9 Β· 2.94 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.17Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.17]
RankingsWhere HMGB1 stands among ~20K protein-coding genes
  • #85of 20,598
    Most Researched1,499 Β· top 1%
  • #3,280of 5,498
    Most Pathogenic Variants6
  • #286of 17,882
    Most Constrained (LOEUF)0.17 Β· top 5%
Genes detectedHMGB1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
HMGB1 in the interplay between autophagy and apoptosis in cancer.
PMID: 38007142
Cancer Lett Β· 2024
1.00
2
The release and activity of HMGB1 in ferroptosis.
PMID: 30686534
Biochem Biophys Res Commun Β· 2019
0.90
3
Production of recombinant human HMGB1 and anti-HMGB1 rabbit serum.
PMID: 21255697
Int Immunopharmacol Β· 2011
0.90
4
Antigene and Antiproliferative Effects of Triplex-Forming Oligonucleotide (TFO) Targeted on hmgb1 Gene in Human Hepatoma Cells.
PMID: 32560618
Anticancer Agents Med Chem Β· 2020
0.86
5
HMGB1 and HMGB2 proteins up-regulate cellular expression of human topoisomerase IIalpha.
PMID: 19223331
Nucleic Acids Res Β· 2009
0.84