Aliases for HMGA2 Gene
Aliases for HMGA2 Gene
External Ids for HMGA2 Gene
- HGNC: 5009
- Entrez Gene: 8091
- Ensembl: ENSG00000149948
- OMIM: 600698
- UniProtKB: P52926
Previous HGNC Symbols for HMGA2 Gene
- HMGIC
Previous GeneCards Identifiers for HMGA2 Gene
- GC12P065624
- GC12P066105
- GC12P065934
- GC12P064504
- GC12P066218
- GC12P063271
Summaries for HMGA2 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]
GeneCards Summary for HMGA2 Gene
HMGA2 (High Mobility Group AT-Hook 2) is a Protein Coding gene. Diseases associated with HMGA2 include Salivary Gland Adenoma, Pleomorphic and Silver-Russell Syndrome. Among its related pathways are MicroRNAs in cancer and DNA Damage/Telomere Stress Induced Senescence. Gene Ontology (GO) annotations related to this gene include enzyme binding and transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding.
UniProtKB/Swiss-Prot for HMGA2 Gene
-
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).
Additional gene information for HMGA2 Gene
- Monarch Initiative
- Search for HMGA2 at DataMed
- Search for HMGA2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMGA2 Gene
Genomics for HMGA2 Gene
GeneHancer (GH) Regulatory Elements for HMGA2 Gene
Promoters and enhancers for HMGA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around HMGA2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the HMGA2 gene promoter:
-
- TBP
- TFIID
- PPAR-gamma1
Regulatory Element Products
Genomic Locations for HMGA2 Gene
Genomic Locations for HMGA2 Gene
- chr12:65,824,131-65,966,295
- (GRCh38/hg38)
- Size:
- 142,165 bases
- Orientation:
- Plus strand
- chr12:66,217,911-66,360,075
- (GRCh37/hg19)
- Size:
- 142,165 bases
- Orientation:
- Plus strand
Genomic View for HMGA2 Gene
Genes around HMGA2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q14.3 by Entrez Gene
- 12q14.3 by HGNC
- 12q14.3 by Ensembl
HMGA2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HMGA2 Gene
Proteins for HMGA2 Gene
-
Protein details for HMGA2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P52926-HMGA2_HUMAN
- Recommended name:
- High mobility group protein HMGI-C
- Protein Accession:
- P52926
- E7EP85
- E7EWA2
- Q1M182
- Q1M185
- Q1M186
- Q1M187
- Q1M188
Protein attributes for HMGA2 Gene
- Size:
- 109 amino acids
- Molecular mass:
- 11832 Da
- Quaternary structure:
-
- Interacts with E4F1 (PubMed:14645522). Interacts with NEK2 (By similarity).
Protein Expression for HMGA2 Gene
Post-translational modifications for HMGA2 Gene
- Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for HMGA2 Gene
Antibody Products
- R&D Systems Antibodies for HMGA2 (HMGA2)
- Novus Biologicals Antibodies for HMGA2
-
Abcam antibodies for HMGA2
- Invitrogen Antibodies for HMGA2
- GeneTex HMGA2 Antibody for HMGA2
-
Boster Bio Antibodies for HMGA2
-
Santa Cruz Biotechnology (SCBT) Antibodies for HMGA2
- Sino Biological Antibodies for HMGA2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HMGA2
- Origene Custom Protein Services for HMGA2
- ProSpec Recombinant Proteins for HMGA2
- Search GeneTex for Proteins for HMGA2
-
Abcam proteins for HMGA2
Assay Products
No data available for DME Specific Peptides for HMGA2 Gene
Domains & Families for HMGA2 Gene
Gene Families for HMGA2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for HMGA2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HMGA2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P52926- Family:
-
- Belongs to the HMGA family.
Function for HMGA2 Gene
Molecular function for HMGA2 Gene
- UniProtKB/Swiss-Prot Function:
- 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).
Phenotypes From GWAS Catalog for HMGA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | ISA | -- |
| GO:0000989 | contributes_to transcription factor activity, transcription factor binding | IDA | 18832382 |
| GO:0001047 | core promoter binding | IDA | 14627817 |
| GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 18832382 |
| GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 14627817 |
Phenotypes for HMGA2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HMGA2
-
CRISPR Products
-
OriGene CRISPR knockouts for HMGA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGA2
- genomics-online: gRNA clones - Search results for available HMGA2 gene related products
- Applied Biological Materials CRISPR for HMGA2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMGA2
- GenScript: Design CRISPR guide RNA sequences for HMGA2
miRNA for HMGA2 Gene
- miRTarBase miRNAs that target HMGA2
-
- hsa-mir-26a-5p (MIRT000109)
- hsa-mir-125b-5p (MIRT000348)
- hsa-mir-34a-5p (MIRT000748)
- hsa-let-7d-5p (MIRT002005)
- hsa-let-7e-5p (MIRT002081)
- hsa-let-7b-5p (MIRT002082)
- hsa-let-7g-5p (MIRT002097)
- hsa-let-7c-5p (MIRT002322)
- hsa-let-7a-5p (MIRT002323)
- hsa-mir-98-5p (MIRT002999)
- hsa-mir-370-3p (MIRT003713)
- hsa-mir-185-5p (MIRT004702)
- hsa-mir-29b-3p (MIRT006054)
- hsa-mir-196a-5p (MIRT006803)
- hsa-mir-16-5p (MIRT006804)
- hsa-mir-15a-5p (MIRT006805)
- hsa-mir-204-5p (MIRT024977)
- hsa-mir-760 (MIRT036768)
- hsa-let-7f-5p (MIRT051403)
- hsa-mir-154-5p (MIRT053326)
- hsa-mir-3199 (MIRT066442)
- hsa-mir-8052 (MIRT066450)
- hsa-mir-25-3p (MIRT066473)
- hsa-mir-32-5p (MIRT066474)
- hsa-mir-92a-3p (MIRT066475)
- hsa-let-7i-5p (MIRT066476)
- hsa-mir-363-3p (MIRT066477)
- hsa-mir-367-3p (MIRT066478)
- hsa-mir-196b-5p (MIRT066479)
- hsa-mir-491-5p (MIRT066480)
- hsa-mir-92b-3p (MIRT066481)
- hsa-mir-1296-3p (MIRT066482)
- hsa-mir-4257 (MIRT066485)
- hsa-mir-4458 (MIRT066487)
- hsa-mir-4461 (MIRT066488)
- hsa-mir-4500 (MIRT066489)
- hsa-mir-4727-3p (MIRT066490)
- hsa-mir-6847-5p (MIRT066496)
- hsa-mir-6857-5p (MIRT066497)
- hsa-mir-6869-5p (MIRT066498)
- hsa-mir-33a-5p (MIRT066499)
- hsa-mir-33b-5p (MIRT066509)
- hsa-mir-142-3p (MIRT066518)
- hsa-let-7c-3p (MIRT066526)
- hsa-mir-508-3p (MIRT066527)
- hsa-mir-648 (MIRT066528)
- hsa-mir-2052 (MIRT066529)
- hsa-mir-3529-3p (MIRT066530)
- hsa-mir-365a-5p (MIRT274478)
- hsa-mir-365b-5p (MIRT274479)
- hsa-mir-145-5p (MIRT437833)
- hsa-mir-23b-3p (MIRT438260)
- hsa-mir-493-5p (MIRT507014)
- hsa-let-7g-3p (MIRT507015)
- hsa-let-7a-2-3p (MIRT507016)
- hsa-mir-19b-2-5p (MIRT507017)
- hsa-mir-19b-1-5p (MIRT507018)
- hsa-mir-19a-5p (MIRT507019)
- hsa-mir-4445-5p (MIRT507020)
- hsa-mir-1244 (MIRT507021)
- hsa-mir-219a-5p (MIRT507022)
- hsa-mir-4782-3p (MIRT507023)
- hsa-mir-6766-3p (MIRT507024)
- hsa-mir-3143 (MIRT557270)
- hsa-mir-4450 (MIRT557271)
- hsa-mir-4262 (MIRT557272)
- hsa-mir-181d-5p (MIRT557273)
- hsa-mir-181c-5p (MIRT557274)
- hsa-mir-181b-5p (MIRT557275)
- hsa-mir-181a-5p (MIRT557276)
- hsa-mir-543 (MIRT557277)
- hsa-mir-490-3p (MIRT732551)
- hsa-mir-33b-3p (MIRT733106)
- hsa-mir-633 (MIRT733673)
- hsa-mir-495-3p (MIRT734067)
- hsa-mir-107 (MIRT734676)
- hsa-mir-485-5p (MIRT734733)
- hsa-mir-1297 (MIRT734816)
- hsa-mir-106a-5p (MIRT735431)
- hsa-mir-10a-3p (MIRT735850)
- hsa-mir-1245b-3p (MIRT736349)
- hsa-mir-1252-3p (MIRT736504)
- hsa-mir-1304-5p (MIRT737277)
- hsa-mir-16-1-3p (MIRT737970)
- hsa-mir-17-3p (MIRT737997)
- hsa-mir-194-5p (MIRT738607)
- hsa-mir-202-3p (MIRT738791)
- hsa-mir-222-5p (MIRT739087)
- hsa-mir-30a-3p (MIRT739727)
- hsa-mir-30d-3p (MIRT739903)
- hsa-mir-30e-3p (MIRT739916)
- hsa-mir-3191-5p (MIRT741000)
- hsa-mir-326 (MIRT741271)
- hsa-mir-330-5p (MIRT741329)
- hsa-mir-335-3p (MIRT741342)
- hsa-mir-3662 (MIRT741996)
- hsa-mir-3688-3p (MIRT742222)
- hsa-mir-3978 (MIRT743228)
- hsa-mir-4261 (MIRT743475)
- hsa-mir-4418 (MIRT744151)
- hsa-mir-4720-3p (MIRT747535)
- hsa-mir-4738-3p (MIRT748019)
- hsa-mir-4775 (MIRT748705)
- hsa-mir-4796-3p (MIRT748970)
- hsa-mir-4804-3p (MIRT749023)
- hsa-mir-490-5p (MIRT749189)
- hsa-mir-5003-3p (MIRT749390)
- hsa-mir-506-5p (MIRT749599)
- hsa-mir-509-3-5p (MIRT749668)
- hsa-mir-509-5p (MIRT749704)
- hsa-mir-518c-5p (MIRT749903)
- hsa-mir-548ah-3p (MIRT750511)
- hsa-mir-548am-3p (MIRT750538)
- hsa-mir-548ar-3p (MIRT750583)
- hsa-mir-548o-3p (MIRT750770)
- hsa-mir-5681b (MIRT751162)
- hsa-mir-591 (MIRT751580)
- hsa-mir-627-3p (MIRT752625)
- hsa-mir-629-3p (MIRT752642)
- hsa-mir-6502-3p (MIRT752911)
- hsa-mir-6760-5p (MIRT754925)
- hsa-mir-6764-3p (MIRT755043)
- hsa-mir-6824-3p (MIRT756935)
- hsa-mir-6830-3p (MIRT757121)
- hsa-mir-6878-5p (MIRT758206)
- hsa-mir-892c-5p (MIRT760456)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGA2
- Browse OriGene Inhibitory RNA Products For HMGA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGA2
- genomics-online: shRNA clones - Search results for available HMGA2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for HMGA2
- VectorBuilder custom plasmid, inducible vectors for HMGA2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HMGA2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HMGA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGA2
- genomics-online: cdna clones - Search results for available HMGA2 gene related products
- orf clones - Search results for available HMGA2 gene related products
- Applied Biological Materials Clones for HMGA2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HMGA2
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HMGA2 Gene
Localization for HMGA2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HMGA2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| endosome | 1 |
- Nucleoli (3)
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | ISS | -- |
| GO:0000785 | chromatin | IEA | -- |
| GO:0005634 | nucleus | IDA,IEA | 16901784 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0032993 | protein-DNA complex | IDA | 19465398 |
Pathways & Interactions for HMGA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cellular Senescence (REACTOME) | ||
| 2 | DNA Damage/Telomere Stress Induced Senescence | ||
| 3 | MicroRNAs in cancer | ||
| 4 | Transcriptional misregulation in cancer | ||
| 5 | Chromatin Regulation / Acetylation | ||
Pathways by source for HMGA2 Gene
1 GeneTex pathway for HMGA2 Gene
1 BioSystems pathway for HMGA2 Gene
2 KEGG pathways for HMGA2 Gene
1 Cell Signaling Technology pathway for HMGA2 Gene
Interacting Proteins for HMGA2 Gene
Selected Interacting proteins:
ENSP00000384026
P52926-HMGA2_HUMAN
for HMGA2 Gene via
STRING
IID
UniProtKB
GPS-Prot Interaction Network for HMGA2
SIGNOR curated interactions for HMGA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 14627817 |
| GO:0001837 | epithelial to mesenchymal transition | IMP | 18832382 |
| GO:0002062 | chondrocyte differentiation | IDA | 21484705 |
| GO:0003131 | mesodermal-endodermal cell signaling | IMP | 17624332 |
| GO:0006284 | base-excision repair | IDA | 19465398 |
Transcripts for HMGA2 Gene
mRNA/cDNA for HMGA2 Gene
- (6) REFSEQ mRNAs :
- (24) Additional mRNA sequences :
- (175) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000403681 4473 bps (uc001ssx.4)
- ENST00000537275 1508 bps (uc010ssv.2)
- ENST00000393578 1993 bps (uc058qmb.1)
- ENST00000537429 1527 bps (uc001sss.2)
- ENST00000425208 1444 bps (uc001sst.3)
Unigene Clusters for HMGA2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HMGA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGA2
- genomics-online: gRNA clones - Search results for available HMGA2 gene related products
- Applied Biological Materials CRISPR for HMGA2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMGA2
- GenScript: Design CRISPR guide RNA sequences for HMGA2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGA2
- Browse OriGene Inhibitory RNA Products For HMGA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGA2
- genomics-online: shRNA clones - Search results for available HMGA2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for HMGA2
- VectorBuilder custom plasmid, inducible vectors for HMGA2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HMGA2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HMGA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGA2
- genomics-online: cdna clones - Search results for available HMGA2 gene related products
- orf clones - Search results for available HMGA2 gene related products
- Applied Biological Materials Clones for HMGA2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for HMGA2 Gene
This gene is overexpressed in Amniocyte (48.6) and Fetal ovary (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HMGA2 Gene
NURSA nuclear receptor signaling pathways regulating expression of HMGA2 Gene:
HMGA2SOURCE GeneReport for Unigene cluster for HMGA2 Gene:
Hs.505924Evidence on tissue expression from TISSUES for HMGA2 Gene
- Liver(2.5)
- Lung(2.5)
- Nervous system(2.4)
- Skin(2.3)
- Spleen(2.3)
- Blood(2.2)
- Intestine(2.2)
- Thyroid gland(2.2)
- Bone marrow(2.1)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HMGA2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- reproductive
- skeleton
Regions:
Head and neck:
- brain
- head
Pelvis:
- uterus
General:
- skin
Primer Products
-
OriGene qPCR primer pairs and template standards for HMGA2
-
OriGene qPCR primer pairs for HMGA2
- genomics-online: primer clones - Search results for available HMGA2 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HMGA2 Gene
Orthologs for HMGA2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | HMGA2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Hmga2 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | HMGA2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HMGI-C 34 |
|
OneToOne | |
| HMGA2 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | HMGA2 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33871 33 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.8936 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hmga2 34 |
|
OneToOne |
- Species where no ortholog for HMGA2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for HMGA2 Gene
- ENSEMBL:
- Gene Tree for HMGA2 (if available)
- TreeFam:
- Gene Tree for HMGA2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HMGA2: view image
Paralogs for HMGA2 Gene
(45) SIMAP similar genes for HMGA2 Gene using alignment to 6 proteins:
- HMGA2_HUMAN
- F5H2A4_HUMAN
- F5H2U8_HUMAN
- F5H6H0_HUMAN
- H0YFY4_HUMAN
- Q1M183_HUMAN
- HMGIC
- HMGA2/RAD51L1 fusion
- HMGA2/WIF1 fusion
- LAMB4
- SLC4A8
- BTBD2
- TMEM14B
- ERBB2
- C4orf22
- AURA2
- CASP7
- NF2
- RUFY1
- FAM175A
- FP1523
- AGBL3
- c-myb
- MYB
- BECN1
- ZNF100
- NFS1
- HKR1
- ZNF564
- SPATS2L
- LINC00596
- GVQW1
- OCEL1
- PKN1
- LEPROTL1
- TSEN2
- DNAPTP3
- CCDC132
- ZNF385A
- SHANK2
- ZNF195
- GLT8D2
- EDRF1
- ZNF20
- LYRM4
- EIF2B3
- C16orf89
- UTY
- ENSA
- SH3PXD2A
- RBP7
Pseudogenes.org Pseudogenes for HMGA2 Gene
No data available for Paralogs for HMGA2 Gene
Variants for HMGA2 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for HMGA2 Gene
- HMGA2_HUMAN-P52926
- Genetic variations in HMGA2 define the stature quantitative trait locus 9 (STQTL9) [MIM:611547]. Human height is a classic, highly heritable quantitative trait.
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000010497 | -- | 65,902,245(+) | C/T | genic_downstream_transcript_variant, intron_variant | |
| rs1000036093 | -- | 65,861,071(+) | A/T | genic_downstream_transcript_variant, intron_variant | |
| rs1000039239 | -- | 65,944,169(+) | A/G | genic_downstream_transcript_variant, intron_variant | |
| rs1000092139 | -- | 65,833,714(+) | C/T | intron_variant | |
| rs1000115932 | -- | 65,954,281(+) | C/T | genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3629792 | CNV | loss | 21293372 |
| esv3629793 | CNV | loss | 21293372 |
| esv8071 | CNV | gain | 19470904 |
| nsv507649 | OTHER | sequence alteration | 20534489 |
Residual Variation Intolerance Score:
57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.28;
25.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HMGA2 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for HMGA2 Gene
(58) MalaCards diseases for HMGA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| salivary gland adenoma, pleomorphic |
|
|
| silver-russell syndrome |
|
|
| leiomyoma, uterine |
|
|
| stature quantitative trait locus 9 |
|
|
| well-differentiated liposarcoma |
|
|
Search HMGA2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HMGA2_HUMAN- Note=A chromosomal aberration involving HMGA2 is associated with a subclass of benign mesenchymal tumors known as lipomas. Translocation t(3;12)(q27-q28;q13-q15) with LPP is shown in lipomas. HMGA2 is also fused with a number of other genes in lipomas. {ECO:0000269 PubMed:8824803}.
- Note=A chromosomal aberration involving HMGA2 is associated with pulmonary chondroid hamartomas. Translocation t(3;12)(q27-q28;q14-q15) with LPP is detected in pulmonary chondroid hamartomas. {ECO:0000269 PubMed:11066083}.
- Note=A chromosomal aberration involving HMGA2 is associated with parosteal lipomas. Translocation t(3;12)(q28;q14) with LPP is also shown in one parosteal lipoma. {ECO:0000269 PubMed:9772904}.
- Note=A chromosomal aberration involving HMGA2 is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with RAD51B. Chromosomal rearrangements involving HMGA2 do not seem to be the principle pathobiological mechanism in uterine leiomyoma. {ECO:0000269 PubMed:12649198, ECO:0000269 PubMed:9892177}.
Additional Disease Information for HMGA2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for HMGA2 Gene
Publications for HMGA2 Gene
- Genomic characterization of human HMGIC, a member of the accessory transcription factor family found at translocation breakpoints in lipomas. (PMID: 8824803) Ashar HR … Chada K (Genomics 1996) 2 3 4 22 58
- HMGA2 is confirmed to be associated with human adult height. (PMID: 19930247) Yang TL … Deng HW (Annals of human genetics 2010) 3 22 44 58
- Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele. (PMID: 19132395) Hodge JC … Morton CC (Human genetics 2009) 3 22 44 58
- Association of a high mobility group gene (HMGA2) variant with bone mineral density. (PMID: 19376282) Kuipers A … Zmuda JM (Bone 2009) 3 22 44 58
- A common variant of HMGA2 is associated with adult and childhood height in the general population. (PMID: 17767157) Weedon MN … Frayling TM (Nature genetics 2007) 3 4 44 58
Products for HMGA2 Gene
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- antibodies-online: Search results for available HMGA2 related products ranked by validation data
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- GeneTex HMGA2 Antibody for HMGA2
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- genomics-online: cdna clones - Search results for available HMGA2 gene related products
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Sources for HMGA2 Gene
- (1) GeneCards
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