HMGA2

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]

Description

High mobility group AT-hook 2

Tissue specificity

Tissue enhanced (bone marrow, testis)

Subcell location

Nucleoplasm, Nucleoli, Nucleoli rim

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

12 (65824460 - 65966291)

Ensembl ID

ENSG00000149948  (ver. 103.38)

Orthologs

-

UniProt

P52926

neXtProt

NX_P52926

Human splice variants

Protein structure