Gene: HMGA2

Alternate names for this Gene: BABL|HMGI-C|HMGIC|LIPO|SRS5|STQTL9

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.3

Description of this Gene: high mobility group AT-hook 2

Type of Gene: protein-coding

rs76456255 in HMGA2 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs1042725 in HMGA2 gene and Birth Weight PMID 23202124 2013 New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.

PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs1351394 in HMGA2 gene and Birth length PMID 25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.

rs1042725 in HMGA2 gene and Body Height PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 17767157 2007 A common variant of HMGA2 is associated with adult and childhood height in the general population.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 18391950 2008 Identification of ten loci associated with height highlights new biological pathways in human growth.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

PMID 20397748 2010 Genome-wide association study of height and body mass index in Australian twin families.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 19343178 2009 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

rs8756 in HMGA2 gene and Chronic Obstructive Airway Disease PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs1480474 in HMGA2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs1042725 in HMGA2 gene and Height PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 18391950 2008 Identification of ten loci associated with height highlights new biological pathways in human growth.

PMID 17767157 2007 We estimate that rs1042725 explains approximately 0.3% of population variation in height (approximately 0.4 cm increased adult height per C allele).

PMID 21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

PMID 19343178 2009 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

PMID 20397748 2010 Genome-wide association study of height and body mass index in Australian twin families.

rs1351394 in HMGA2 gene and Hip circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

rs7970350 in HMGA2 gene and Infant length PMID 25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.

rs2272046 in HMGA2 gene and Polycystic Ovary Syndrome PMID 22885925 2012 Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.

rs8756 in HMGA2 gene and RESTING HEART RATE PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs7970350 in HMGA2 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs7970350 in HMGA2 gene and Smoking Behaviors PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs10784502 in HMGA2 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1042725 in HMGA2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7970350 in HMGA2 gene and adiposity PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.