HMGA2
High mobility group protein HMGI-C
Also known as: BABL, HMGA2_HUMAN, HMGIC, LIPO
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P52926
- Gene
- HMGA2
- Ensembl
- ENSG00000149948
- Chromosome
- 12
- Canonical length
- 109 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nucleoli,Nucleoli rim
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
109 residues, UniProt reviewed canonical sequence.
>P52926|HMGA2
1 MSARGEGAGQ PSTSAQGQPA APAPQKRGRG RPRKQQQEPT GEPSPKRPRG RPKGSKNKSP
61 SKAAQKKAEA TGEKRPRGRP RKWPQQVVQK KPAQEETEET SSQESAEEDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HMGA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.72
- Highest tissue expression
- 4.6 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 4.6 nTPM
- testis: 3.6 nTPM
- rectum: 2.2 nTPM
- colon: 1.9 nTPM
- skeletal muscle: 1.5 nTPM
- duodenum: 1.2 nTPM
Single-cell type
- pituicytes/fscs: 455 nCPM
- hematopoietic stem cells: 428 nCPM
- endometrial secretory cells: 168 nCPM
- megakaryocyte-erythroid progenitors: 154 nCPM
- erythrocyte progenitors: 150 nCPM
- megakaryocyte progenitors: 108 nCPM
Immune cell
- basophil: 1.5 nTPM
- neutrophil: 0.6 nTPM
- non-classical monocyte: 0.6 nTPM
- NK-cell: 0.3 nTPM
- classical monocyte: 0.2 nTPM
- eosinophil: 0.2 nTPM
Brain region
- cerebellum: 4.8 nTPM
- medulla oblongata: 4.4 nTPM
- cerebral cortex: 4.3 nTPM
- white matter: 4.2 nTPM
- midbrain: 3.8 nTPM
- amygdala: 3.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HMGA2.
Disease | AllUniProt
Conditions HMGA2 is implicated in, by any mechanism.
- Silver-Russell syndrome 5 (SRS5) MIM:618908
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 55 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Silver-Russell syndrome 5
- Silver-Russell syndrome 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.45
- gnomAD pLI
- 0.87
- gnomAD missense Z
- 1.34
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adrenal gland development
- astrocyte differentiation
- base-excision repair
- cell division
- cell proliferation in forebrain
- chondrocyte differentiation
- chondrocyte proliferation
- chromatin organization
- chromosome condensation
- endodermal cell differentiation
- epithelial to mesenchymal transition
- epithelial tube branching involved in lung morphogenesis
- fat cell differentiation
- fat pad development
- fibroblast proliferation
- heterochromatin formation
- host-mediated suppression of viral transcription
- intracellular signal transduction
- lung epithelium development
- male gonad development
- mesenchymal cell differentiation
- mesodermal cell differentiation
- multicellular organism growth
- negative regulation of apoptotic process
- negative regulation of astrocyte differentiation
- negative regulation of cellular senescence
- negative regulation of DNA binding
- negative regulation of DNA-templated transcription
- negative regulation of double-strand break repair via nonhomologous end joining
- negative regulation of intracellular steroid hormone receptor signaling pathway
- negative regulation of receptor signaling pathway via JAK-STAT
- negative regulation of single stranded viral RNA replication via double stranded DNA intermediate
- negative regulation of transcription by RNA polymerase II
- negative regulation of Wnt signaling pathway
- oncogene-induced cell senescence
- pituitary gland development
- positive regulation of angiogenesis
- positive regulation of cell proliferation in bone marrow
- positive regulation of DNA-templated transcription
- positive regulation of epithelial cell proliferation involved in lung morphogenesis
- positive regulation of fibroblast proliferation
- positive regulation of gene expression
- positive regulation of multicellular organism growth
- positive regulation of protein serine/threonine kinase activity
- positive regulation of stem cell proliferation
- positive regulation of transcription by RNA polymerase II
- regulation of cell cycle process
- regulation of DNA-templated transcription
- regulation of growth hormone secretion
- regulation of stem cell population maintenance
- response to virus
- somatic stem cell population maintenance
- spermatogenesis
- stem cell differentiation
- stem cell proliferation
- mesodermal-endodermal cell signaling
Molecular functions
- 5'-deoxyribose-5-phosphate lyase activity
- C2H2 zinc finger domain binding
- cAMP response element binding
- DNA binding, bending
- DNA-(apurinic or apyrimidinic site) endonuclease activity
- enzyme binding
- MH2 domain binding
- minor groove of adenine-thymine-rich DNA binding
- nucleic acid binding
- nucleosomal DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- SMAD binding
- transcription cis-regulatory region binding
- transcription coregulator activity
- transcription corepressor activity
- MH1 domain binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HMGA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HMGA2 as an antibody target. Whether an autoantibody or antibody against HMGA2 could matter depends on whether native HMGA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HMGA2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HMGA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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