HMGA2 Chromosome 12
High mobility group AT-hook 2
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What This Gene Does
This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Canonical high mobility group
Locus Type
gene with protein product
Location
12q14.3
Ensembl
ENSG00000149948
Associated Conditions (2)
Silver-Russell syndrome 5
Silver-Russell syndrome 1
Key Variants
RS2498929809
Likely pathogenic
Silver-Russell syndrome 5, Silver-Russell syndrome 5
Health Risk
RS1114167319
Pathogenic
Silver-Russell syndrome 1, Silver-Russell syndrome 5, Silver-Russell syndrome 1
Health Risk
RS1114167320
Pathogenic
Silver-Russell syndrome 1, Silver-Russell syndrome 5, Silver-Russell syndrome 1
Health Risk
RS1876803958
Pathogenic
Silver-Russell syndrome 5, Silver-Russell syndrome 5
Health Risk
RS2120807666
Pathogenic
Silver-Russell syndrome 5, Silver-Russell syndrome 5
Health Risk
RS2498933809
Pathogenic
Silver-Russell syndrome 5, Silver-Russell syndrome 5
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2498929809 | Health Risk | Likely pathogenic | Silver-Russell syndrome 5, Silver-Russell syndrome 5 |
| RS1114167319 | Health Risk | Pathogenic | Silver-Russell syndrome 1, Silver-Russell syndrome 5, Silver-Russell syndrome 1 |
| RS1114167320 | Health Risk | Pathogenic | Silver-Russell syndrome 1, Silver-Russell syndrome 5, Silver-Russell syndrome 1 |
| RS1876803958 | Health Risk | Pathogenic | Silver-Russell syndrome 5, Silver-Russell syndrome 5 |
| RS2120807666 | Health Risk | Pathogenic | Silver-Russell syndrome 5, Silver-Russell syndrome 5 |
| RS2498933809 | Health Risk | Pathogenic | Silver-Russell syndrome 5, Silver-Russell syndrome 5 |