HMGA2

Chr 12q14.3

high mobility group AT-hook 2

Aliases:: BABL, LIPO
MANE:: ENST00000403681.7

OMIM: 600698 ↗NCBI: 8091 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

HMGA2 · P52926

v62025-08-01

Predicted Aligned Error matrix for HMGA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.9/ 100

Low

109 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)37%
Low(50–70)50%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Silver Russell syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Multiple lipomas
Unknown

Disease associations (Open Targets)

Silver-Russell syndrome 5
0.76
type 2 diabetes mellitus
0.55
diabetes mellitus
0.54
Abnormality of the skeletal system
0.45
Silver-Russell syndrome
0.43
diabetic eye disease
0.41
lipoma
0.40
leiomyoma
0.40
Inguinal hernia
0.39
diabetic retinopathy
0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

High mobility group protein HMGI-C

Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity). Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner (PubMed:28796236)