HMGA2 high mobility group AT-hook 2
Gene ID: 8091, updated on 7-Apr-2024Gene type: protein coding
Also known as: BABL; LIPO; SRS5; HMGIC; HMGI-C; STQTL9
- See all available tests in GTR for this gene
- Go to complete Gene record for HMGA2
- Go to Variation Viewer for HMGA2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A common variant of HMGA2 is associated with adult and childhood height in the general population. GeneReviews: Not available | |
| A genome-wide association study for diabetic nephropathy genes in African Americans. GeneReviews: Not available | |
| A novel common variant in DCST2 is associated with length in early life and height in adulthood. GeneReviews: Not available | |
| Common variants at 12q15 and 12q24 are associated with infant head circumference. GeneReviews: Not available | |
| Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. GeneReviews: Not available | |
| Genome-wide association analysis identifies 20 loci that influence adult height. GeneReviews: Not available | |
| Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. GeneReviews: Not available | |
| Genome-wide association study identifies four loci associated with eruption of permanent teeth. GeneReviews: Not available | |
| Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). GeneReviews: Not available | |
| Genome-wide association study of height and body mass index in Australian twin families. GeneReviews: Not available | |
| Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. GeneReviews: Not available | |
| Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Identification of common variants associated with human hippocampal and intracranial volumes. GeneReviews: Not available | |
| Identification of ten loci associated with height highlights new biological pathways in human growth. GeneReviews: Not available | |
| Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. GeneReviews: Not available | |
| New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. GeneReviews: Not available | |
| Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available | |
| Silver-Russell syndrome 5 | not available |
| Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2021-09-14) ClinGen Genome Curation PagePubMedTriplosensitivity |
Genomic context
- Location:
- 12q14.3
- Sequence:
- Chromosome: 12; NC_000012.12 (65824460..65966291)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HMGA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HMGA2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.