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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HMGA2
high mobility group AT-hook 2
Chromosome 12 · 12q14.3
NCBI Gene: 8091Ensembl: ENSG00000149948.14HGNC: HGNC:5009UniProt: F5H2A4
535PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SMAD bindingnucleic acid bindingmesenchymal cell differentiationstem cell differentiationSilver-Russell syndrome 5type 2 diabetes mellitusdiabetes mellitusAbnormality of the skeletal system
✦AI Summary

HMGA2 is a nonhistone chr12-binding transcriptional regulator that functions as a key determinant of stem cell and progenitor cell fate across multiple tissues. In hematopoietic stem cells (HSCs), HMGA2 expression is highly enriched in the most immature populations and promotes long-term engraftment and myeloerythroid differentiation 1. Under stress conditions, HMGA2 is phosphorylated by casein kinase 2 to facilitate HSC expansion and suppress inflammatory gene transcription 2. HMGA2 is regulated developmentally through the let-7/LIN28 axis and the BRCA1/ZNF350/CtIP repressor complex 3. Beyond normal hematopoiesis, HMGA2 is aberrantly overexpressed in multiple malignancies. In colorectal cancer, HMGA2 directly activates STAT3 transcription, promoting CCL2-mediated tumor-associated macrophage recruitment and M2 polarization 4. In acute myeloid leukemia, HMGA2+ cases display an immature transcriptional signature with upregulated G2/M checkpoint genes, conferring synthetic lethality with G2/M inhibitors 5. HMGA2 fusion genes involving PLAG1 or NFIB are recurrent oncogenic drivers in pleomorphic adenomas and cutaneous mixed tumors 6 7. In lens epithelial cells, HMGA2 modulates TGFβ/Smad and Notch signaling to promote epithelial-mesenchymal transition 8. These findings establish HMGA2 as a stem cell regulator and oncogenic driver across diverse tissues.

Sources cited
1
HMGA2 is highly expressed in HSCs and most immature progenitors; its overexpression promotes long-term hematopoietic reconstitution and myeloerythroid differentiation
PMID: 30808686
2
HMGA2 phosphorylation by CK2 promotes HSC expansion under stress conditions and suppresses inflammatory gene transcription via TNF-α/CK2/phospho-Hmga2 axis
PMID: 38811851
3
HMGA2 is regulated by the let-7/LIN28 axis and repressed by the BRCA1/ZNF350/CtIP complex in placental cells
PMID: 30137214
4
HMGA2 directly binds the STAT3 promoter to activate its transcription, promoting CCL2 secretion and tumor-associated macrophage recruitment in colorectal cancer
PMID: 34976223
5
HMGA2+ AML cases display immature transcriptional signature with elevated G2/M checkpoint genes and synthetic lethality with G2/M inhibitors
PMID: 35797243
6
NFIB gene fusions activate PLAG1 and HMGA2 through enhancer-hijacking in pleomorphic adenomas
PMID: 32654217
7
HMGA2 fusions (HMGA2::WIF1 and HMGA2::NFIB) are oncogenic drivers in apocrine-type cutaneous mixed tumors
PMID: 38266920
8
HMGA2 modulates TGFβ/Smad, TGFβ/ERK and Notch signaling pathways to promote epithelial-mesenchymal transition in lens fibrosis
PMID: 29974827
Disease Associationsⓘ21
Silver-Russell syndrome 5Open Targets
0.74Strong
type 2 diabetes mellitusOpen Targets
0.56Moderate
diabetes mellitusOpen Targets
0.54Moderate
Abnormality of the skeletal systemOpen Targets
0.47Moderate
Inguinal herniaOpen Targets
0.45Moderate
Silver-Russell syndromeOpen Targets
0.42Moderate
diabetic eye diseaseOpen Targets
0.42Moderate
osteoarthritisOpen Targets
0.41Moderate
osteoarthritis, kneeOpen Targets
0.41Moderate
lipomaOpen Targets
0.40Weak
leiomyomaOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.39Weak
diabetic retinopathyOpen Targets
0.39Weak
diabetic neuropathyOpen Targets
0.38Weak
esophageal adenocarcinomaOpen Targets
0.38Weak
Hernia of the abdominal wallOpen Targets
0.38Weak
Silver-Russell syndrome due to a point mutationOpen Targets
0.38Weak
tooth eruptionOpen Targets
0.38Weak
type 2 diabetes nephropathyOpen Targets
0.37Weak
glaucomaOpen Targets
0.37Weak
Silver-Russell syndrome 5UniProt
Pathogenic Variants9
NM_003483.6(HMGA2):c.112-2A>GLikely pathogenic
Silver-Russell syndrome 5
★☆☆☆2025
NM_003483.6(HMGA2):c.112-1G>ALikely pathogenic
Silver-Russell syndrome 5
★☆☆☆2025
NM_003483.6(HMGA2):c.138_141delinsCT (p.Lys46fs)Pathogenic
Silver-Russell syndrome 5
★☆☆☆2024→ Residue 46
NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)Pathogenic
Silver-Russell syndrome 1|Silver-Russell syndrome 5|not provided
★☆☆☆2022→ Residue 65
NM_003483.6(HMGA2):c.44_48del (p.Ala15fs)Likely pathogenic
Silver-Russell syndrome 5
★☆☆☆2022→ Residue 15
NM_003483.6(HMGA2):c.47dup (p.Gln18fs)Pathogenic
Silver-Russell syndrome 5
★☆☆☆2021→ Residue 18
NM_003483.6(HMGA2):c.52_56del (p.Gln18fs)Likely pathogenic
Silver-Russell syndrome 5
★☆☆☆→ Residue 18
NM_003483.6(HMGA2):c.189del (p.Ala64fs)Pathogenic
Silver-Russell syndrome 1|Silver-Russell syndrome 5
☆☆☆☆2024→ Residue 64
NM_003483.6(HMGA2):c.283-6_283delPathogenic
Silver-Russell syndrome 5
☆☆☆☆2020
View on ClinVar ↗
Related Genes
IGF2BP1Protein interaction98%SMAD1Protein interaction94%SMAD5Protein interaction94%SMAD9Protein interaction94%TP53Protein interaction92%IGF2BP3Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
15%
Heart
4%
Lung
4%
Liver
4%
Brain
2%
Gene Interaction Network
Click a node to explore
HMGA2IGF2BP1SMAD1SMAD5SMAD9TP53IGF2BP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P52926
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.69LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.80 [0.39–1.69]
RankingsWhere HMGA2 stands among ~20K protein-coding genes
  • #470of 20,598
    Most Researched535 · top 5%
  • #2,905of 5,498
    Most Pathogenic Variants9
  • #16,058of 17,882
    Most Constrained (LOEUF)1.69
Genes detectedHMGA2
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
HMGA2 facilitates colorectal cancer progression via STAT3-mediated tumor-associated macrophage recruitment.
PMID: 34976223
Theranostics · 2022
1.00
2
PMID: 20301499
0.90
3
Oncological role of HMGA2 (Review).
PMID: 31432151
Int J Oncol · 2019
0.86
4
Prognostic significance and immune infiltration analysis of HMGA2 in endometrial cancer.
PMID: 40703517
Front Immunol · 2025
0.82
5
Chromatin modifier Hmga2 promotes adult hematopoietic stem cell function and blood regeneration in stress conditions.
PMID: 38811851
EMBO J · 2024
0.80