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Gene

HMGA2

high mobility group AT-hook 2

Summary

Cytogenetic location
12q14.3
Coordinates
Chromosome 12: 65,824,483–65,966,291 (GRCh38)
Exons
5 exons across 141.8 kb
Protein
109 amino acids
Also known as
BABL, LIPO
Previous symbols
HMGIC
MANE Select transcript
ENST00000403681.7NM_003483.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-Wiedemann

    • Silver-Russell syndrome

      A growth disorder, usually caused by methylation changes at 11p15 or maternal uniparental disomy of chromosome 7 and occasionally by variants in IGF2, PLAG1, HMGA2 or CDKN1C, that causes growth restriction before and after birth and body asymmetry.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides nutrition, blood-sugar and growth management.

How HMGA2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where HMGA2 sits. HMGA2 and 7 genes near it on chromosome 12, from 65,395,387 to 66,395,386.Chromosome 1212q14.3p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3365.4 Mb65.6 Mb65.8 Mb66 Mb66.2 MbMSRB3: 65,278,542–65,505,156, forward strandMSRB3HMGA2: 65,824,483–65,966,291, forward strandHMGA2LLPH: 66,114,523–66,130,761, reverse strandLLPH: 66,123,917–66,169,985, reverse strandTMBIM4: 66,135,846–66,170,074, reverse strandTMBIM4IRAK3: 66,188,995–66,254,622, forward strandIRAK3HELB: 66,302,452–66,343,643, forward strandHELBGRIP1: 66,347,431–67,069,162, reverse strandGRIP1Diagram of HMGA2: 5 exons on the forward strand of chromosome 12Exon 1: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 65,824,483–65,825,381, 899 basesExon 2: 65,828,001–65,828,087, 87 basesExon 3: 65,838,519–65,838,569, 51 basesExon 4: 65,951,383–65,951,415, 33 basesExon 5: 65,963,245–65,966,291, 3,047 bases123455′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.1 kb of the gene's 141.8 kb; 330 of those bases code for the protein.

How a genome test reads HMGA2

6

positions in HMGA2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 141.8 kb of HMGA2, introns included, not only the 4.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). HMGA2 gene: high mobility group AT-hook 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/hmga2

Vancouver

Dante Labs. HMGA2 gene: high mobility group AT-hook 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hmga2

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