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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]
HMGA2 (High Mobility Group AT-Hook 2) is a Protein Coding gene. Diseases associated with HMGA2 include Silver-Russell Syndrome 5 and Salivary Gland Adenoma, Pleomorphic. Among its related pathways are Transcriptional misregulation in cancer and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include enzyme binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is LYRM4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 17426251 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 14627817 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 14627817 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 18832382 |
GO:0003677 | DNA binding | IEA,NAS | 8198613 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | ISS | -- |
GO:0000785 | chromatin | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 16901784 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0032993 | protein-DNA complex | IDA | 19465398 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cellular Senescence (REACTOME) | ||
2 | DNA Damage/Telomere Stress Induced Senescence | ||
3 | Chromatin Regulation / Acetylation | ||
4 | MicroRNAs in cancer | ||
5 | Transcriptional misregulation in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 14627817 |
GO:0001837 | epithelial to mesenchymal transition | IMP | 18832382 |
GO:0002062 | chondrocyte differentiation | IDA | 21484705 |
GO:0003131 | mesodermal-endodermal cell signaling | IMP | 17624332 |
GO:0006284 | base-excision repair | IBA,IDA | 19465398 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | HMGA2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hmga2 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | HMGA2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HMGI-C 31 |
|
OneToOne | |
HMGA2 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | HMGA2 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33871 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.8936 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hmga2 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708544 | Likely Benign: not provided | 65,963,262(+) | A/T | SYNONYMOUS_VARIANT | |
720005 | Likely Benign: not provided | 65,838,551(+) | A/G | SYNONYMOUS_VARIANT | |
726798 | Likely Benign: not provided | 65,963,277(+) | T/C | SYNONYMOUS_VARIANT | |
750623 | Likely Benign: not provided | 65,951,424(+) | T/C | INTRON_VARIANT | |
768565 | Benign: not provided | 65,838,511(+) | A/G | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3629792 | CNV | loss | 21293372 |
esv3629793 | CNV | loss | 21293372 |
esv8071 | CNV | gain | 19470904 |
nsv507649 | OTHER | sequence alteration | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
silver-russell syndrome 5 |
|
|
salivary gland adenoma, pleomorphic |
|
|
silver-russell syndrome 1 |
|
|
stature quantitative trait locus 9 |
|
|
leiomyoma |
|