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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
HMGB3-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 13 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
X-LINKED COLOBOMATOUS MICROPHTHALMIA, MICROCEPHALY, INTELLECTUAL DISABILITY, SHORT STATURE SYNDROME 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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19949890
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 32291385 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28678825, 30639441
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 30639441
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24098490, 31213919, 31773719
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22655796 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24098490, 31755218, 36267313, 37338518 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31773719 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30343649 Associate
★☆☆☆☆
Found in Text Mining only