Gene Gene information from NCBI Gene database.
Entrez ID 3149
Gene name High mobility group box 3
Gene symbol HMGB3
Synonyms (NCBI Gene)
HMG-2aHMG-4HMG2AHMG4
Chromosome X
Chromosome location Xq28
Summary This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs431825172 ->TA Not-provided, pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
617
miRTarBase ID miRNA Experiments Reference
MIRT018990 hsa-miR-335-5p Microarray 18185580
MIRT019470 hsa-miR-148b-3p Microarray 17612493
MIRT031042 hsa-miR-21-5p Microarray 18591254
MIRT046106 hsa-miR-124-3p CLASH 23622248
MIRT037218 hsa-miR-877-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000400 Function Four-way junction DNA binding ISS
GO:0002376 Process Immune system process IEA
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding ISS
GO:0003723 Function RNA binding HDA 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300193 5004 ENSG00000029993
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15347
Protein name High mobility group protein B3 (High mobility group protein 2a) (HMG-2a) (High mobility group protein 4) (HMG-4)
Protein function Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference for non-canonical DNA structures such as single-stranded DNA. Can bend
PDB 2EQZ , 2YQI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09011 HMG_box_2 6 79 HMG-box domain Domain
PF00505 HMG_box 93 161 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in placenta.
Sequence
Sequence length 200
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HMGB3-related disorder Benign; Likely benign rs782021512, rs782301597, rs782085206 RCV003919593
RCV003911737
RCV003901402
RCV003936827
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome Uncertain significance rs431825172 RCV000128635
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36397035
Autistic Disorder Associate 32291385
Breast Neoplasms Inhibit 22655796
Breast Neoplasms Associate 24098490, 31755218, 36267313, 37338518
Breast Neoplasms Stimulate 31773719
Carcinoma Hepatocellular Associate 30343649
Carcinoma Non Small Cell Lung Associate 16619573, 23609034, 30446524
Carcinoma Ovarian Epithelial Associate 37328851
Carcinoma Pancreatic Ductal Associate 39684631
Carcinoma Squamous Cell Associate 32871048