HMGB1 Chromosome 13
High mobility group box 1
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What This Gene Does
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 processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Canonical high mobility group
Locus Type
gene with protein product
Location
13q12.3
Ensembl
ENSG00000189403
Associated Conditions (4)
HMGB1-associated disorder
Brachyphalangy
polydactyly
and tibial aplasia/hypoplasia
Key Variants
RS2137396956
Likely pathogenic
Health Risk
RS2500473984
Likely pathogenic
HMGB1-associated disorder, HMGB1-associated disorder
Health Risk
RS2500460578
Pathogenic
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Health Risk
RS2500460631
Pathogenic
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2137396956 | Health Risk | Likely pathogenic | — |
| RS2500473984 | Health Risk | Likely pathogenic | HMGB1-associated disorder, HMGB1-associated disorder |
| RS2500460578 | Health Risk | Pathogenic | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia |
| RS2500460631 | Health Risk | Pathogenic | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia |