Gene Gene information from NCBI Gene database.
Entrez ID 3146
Gene name High mobility group box 1
Gene symbol HMGB1
Synonyms (NCBI Gene)
HMG-1HMG1HMG3SBP-1
Chromosome 13
Chromosome location 13q12.3
Summary This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular proces
miRNA miRNA information provided by mirtarbase database.
1217
miRTarBase ID miRNA Experiments Reference
MIRT007157 hsa-miR-22-3p Luciferase reporter assayqRT-PCRWestern blot 23303785
MIRT016305 hsa-miR-193b-3p Microarray 20304954
MIRT052166 hsa-let-7b-5p CLASH 23622248
MIRT051522 hsa-let-7e-5p CLASH 23622248
MIRT050047 hsa-miR-26b-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NFIC Activation 11245470
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
176
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 11748232
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IGI 19158276
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19158276
GO:0000400 Function Four-way junction DNA binding ISS
GO:0000405 Function Bubble DNA binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
163905 4983 ENSG00000189403
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09429
Protein name High mobility group protein B1 (High mobility group protein 1) (HMG-1)
Protein function Multifunctional redox sensitive protein with various roles in different cellular compartments. In the nucleus is one of the major chromatin-associated non-histone proteins and acts as a DNA chaperone involved in replication, transcription, chrom
PDB 2LY4 , 2RTU , 2YRQ , 6CG0 , 6CIJ , 6CIK , 6CIL , 6CIM , 6OEM , 6OEN , 6OEO , 8I9M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09011 HMG_box_2 6 78 HMG-box domain Domain
PF00505 HMG_box 95 163 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed in platelets (PubMed:11154118). {ECO:0000269|PubMed:11154118}.
Sequence
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Base excision repair
Autophagy - animal
Necroptosis
Neutrophil extracellular trap formation
  Apoptosis induced DNA fragmentation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Regulation of TLR by endogenous ligand
Neutrophil degranulation
Advanced glycosylation endproduct receptor signaling
TRAF6 mediated NF-kB activation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia Pathogenic rs2500460578, rs2500460631 RCV002508858
RCV002508859
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HMGB1-associated disorder Likely pathogenic rs2500473984 RCV003448547
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA-HYPOPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 29041001
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 23393335
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 25954971
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 19451748, 28440506, 28618057, 28754974, 28755135, 28894846, 29393354, 29511434, 30136704, 30365121, 30537729, 30947809
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18425372
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 29745087, 31399104
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 31831860
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23467607, 26042604, 26840258
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15789216
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 24928512, 31731454
★☆☆☆☆
Found in Text Mining only