HMGA2
high mobility group AT-hook 2
Summary
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]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2070808 | 12:66,217,872 | T/C | — | — |
| rs537950543 | 12:66,218,799 | C/T | — | — |
| rs1448432644 | 12:66,219,065 | T/G | — | likely benign |
| rs2498929974 | 12:66,219,167 | T/A | — | uncertain significance |
| rs1870297238 | 12:66,221,823 | C/T | — | uncertain significance |
| rs1114167319 | 12:66,221,862 | C/T | — | pathogenic |
| rs1241586108 | 12:66,221,868 | G/A | — | uncertain significance |
| rs1460121 | 12:66,222,152 | C/G | — | — |
| rs2272046 | 12:66,224,461 | A/C | regulatory region variant | — |
| rs7979673 | 12:66,227,257 | C/T | intron variant | — |
| rs55674630 | 12:66,232,291 | A/G | — | likely benign |
| rs1483054103 | 12:66,232,312 | C/T | — | uncertain significance |
| rs1173416748 | 12:66,232,323 | C/T | — | uncertain significance |
| rs748429657 | 12:66,232,331 | A/G | — | likely benign |
| rs2583934 | 12:66,232,810 | G/A | — | — |
| rs2612059 | 12:66,239,111 | A/T | — | — |
| rs10878339 | 12:66,239,874 | A/G | regulatory region variant | — |
| rs116257126 | 12:66,245,053 | G/A | downstream gene variant | — |
| rs118003500 | 12:66,245,955 | G/A | downstream gene variant | — |
| rs343093 | 12:66,255,005 | G/T | — | — |
| rs567796399 | 12:66,272,780 | T/C | — | — |
| rs571287053 | 12:66,282,645 | G/A | — | — |
| rs745539688 | 12:66,308,674 | C/T | — | likely benign |
| rs2499068331 | 12:66,308,861 | G/A | — | uncertain significance |
| rs77970919 | 12:66,308,896 | A/G | — | benign |
| rs2306436 | 12:66,308,915 | T/C | — | benign |
| rs11175967 | 12:66,321,344 | C/G | upstream gene variant | — |
| rs11175968 | 12:66,321,633 | A/G | — | — |
| rs4992846 | 12:66,327,028 | C/T | downstream gene variant | — |
| rs10878349 | 12:66,327,632 | A/T | — | — |
| rs12810758 | 12:66,328,027 | C/T | downstream gene variant | — |
| rs17101923 | 12:66,338,202 | G/T | regulatory region variant | — |
| rs1038196 | 12:66,343,400 | G/A | — | — |
| rs10784502 | 12:66,343,810 | C/T | regulatory region variant | — |
| rs151017786 | 12:66,345,187 | C/G | — | likely benign |
| rs577654784 | 12:66,345,204 | T/C | — | likely benign |
| rs142432942 | 12:66,346,128 | C/T | — | likely benign |
| rs74097833 | 12:66,346,207 | T/C | — | benign |
| rs1871674 | 12:66,348,134 | T/A | intron variant | — |
| rs17179670 | 12:66,349,812 | A/G | intron variant | — |
| rs1351394 | 12:66,351,826 | T/G | — | — |
| rs11175980 | 12:66,352,572 | C/T | regulatory region variant | — |
| rs1592471112 | 12:66,357,023 | A/G | — | uncertain significance |
| rs143880692 | 12:66,357,042 | A/T | — | likely benign |
| rs2499136244 | 12:66,357,053 | A/G | — | uncertain significance |
| rs201860923 | 12:66,357,057 | T/C | — | likely benign |
| rs772000269 | 12:66,357,073 | G/A | — | likely benign |
| rs1042725 | 12:66,358,347 | C/T | 3 prime UTR variant | — |
| rs8756 | 12:66,359,752 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.