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HMGA2 Gene

protein-coding   GIFtS: 62
GCID: GC12P066218

High Mobility Group AT-Hook 2

(Previous name: high-mobility group (nonhistone chromosomal) protein isoform...)
(Previous symbol: HMGIC)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
High Mobility Group AT-Hook 21 2     HMGI-C2
HMGIC1 2 3 5     LIPO2
High-Mobility Group (Nonhistone Chromosomal) Protein Isoform I-C1 2     STQTL92
High Mobility Group AT-Hook Protein 22 3     High Mobility Group Protein HMGI-C2
BABL2 5     High-Mobility Group Protein HMGI-C2

External Ids:    HGNC: 50091   Entrez Gene: 80912   Ensembl: ENSG000001499487   OMIM: 6006985   UniProtKB: P529263   

Export aliases for HMGA2 gene to outside databases

Previous GC identifers: GC12P065624 GC12P066105 GC12P065934 GC12P064504 GC12P063271


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 diffuse lipomatosis, and 12q14 microdeletion syndrome. GO annotations related to this gene include DNA binding, bending and transcription factor binding.

UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926
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

Gene Wiki entry for HMGA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HMGA2 gene promoter:
         TBP   PPAR-gamma1   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMGA2 promoter sequence
   Search Chromatin IP Primers for HMGA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HMGA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q15   Ensembl cytogenetic band:  12q14.3   HGNC cytogenetic band: 12q15

HMGA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMGA2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P066218:  view genomic region     (about GC identifiers)

Start:
66,217,911 bp from pter      End:
66,360,075 bp from pter
Size:
142,165 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926 (See protein sequence)
Recommended Name: High mobility group protein HMGI-C  
Size: 109 amino acids; 11832 Da
Subunit: Interacts with E4F1. Interacts with NEK2 (By similarity)
Developmental stage: Expressed predominantly during embryogenesis
Secondary accessions: E7EP85 E7EWA2 Q1M182 Q1M185 Q1M186 Q1M187 Q1M188
Alternative splicing: 6 isoforms:  P52926-1   P52926-2   P52926-3   P52926-4   P52926-5   P52926-6   

Explore the universe of human proteins at neXtProt for HMGA2: NX_P52926

Explore proteomics data for HMGA2 at MOPED

Post-translational modifications: 

  • Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2
    (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HMGA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003474.1  NP_003475.1  

    ENSEMBL proteins: 
     ENSP00000384026   ENSP00000437747   ENSP00000377206   ENSP00000443372   ENSP00000407306  
     ENSP00000437621   ENSP00000346658   ENSP00000439317   ENSP00000377205   ENSP00000440919  
    Reactome Protein details: P52926

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    HMG: High-mobility group / Canonical

    4 InterPro protein domains:
     IPR020478 AT_hook-like
     IPR017956 AT_hook_DNA-bd_motif
     IPR000116 HMGI/HMGY
     IPR000637 HMGI/Y_DNA-bd_CS

    Graphical View of Domain Structure for InterPro Entry P52926

    ProtoNet protein and cluster: P52926

    1 Blocks protein domain: IPB000116 High mobility group protein (HMGY) signature

    UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926
    Similarity: Belongs to the HMGA family
    Similarity: Contains 3 A.T hook DNA-binding domains


    HMGA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HMGA2_HUMAN, P52926
    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

         Gene Ontology (GO): Selected molecular function terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000975regulatory region DNA binding IDA17426251
    GO:0000988contributes to protein binding transcription factor activity IDA18832382
    GO:0001047core promoter binding IDA14627817
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA18832382
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA14627817
         
    HMGA2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HMGA2:
     Decreased viability  Increased HPV18 LCR reporter a 

         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hmga2):
     adipose tissue  behavior/neurological  craniofacial  endocrine/exocrine gland  growth/size/body 
     hearing/vestibular/ear  homeostasis/metabolism  integument  limbs/digits/tail  nervous system 
     reproductive system 

    HMGA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hmga2tm1Cha for HMGA2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HMGA2
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    miRTarBase miRNAs that target HMGA2:
    hsa-mir-185-5p (MIRT004702), hsa-let-7d-5p (MIRT002005), hsa-mir-26a-5p (MIRT000109), hsa-let-7b-5p (MIRT002082), hsa-mir-370-3p (MIRT003713), hsa-mir-125b-5p (MIRT000348), hsa-mir-760 (MIRT036768), hsa-let-7f-5p (MIRT051403), hsa-mir-98-5p (MIRT002999), hsa-mir-34a-5p (MIRT000748), hsa-let-7c-5p (MIRT002322), hsa-let-7e-5p (MIRT002081), hsa-let-7g-5p (MIRT002097), hsa-let-7a-5p (MIRT002323)

    Block miRNA regulation of human, mouse, rat HMGA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HMGA2 (see all 103):
    hsa-miR-579 hsa-miR-15a hsa-miR-106a hsa-miR-219-5p hsa-miR-578 hsa-miR-890 hsa-miR-298 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidHMGA2 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HMGA2_HUMAN, P52926: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular2
    plasma membrane2
    cytoskeleton1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome ISS--
    GO:0000785chromatin ----
    GO:0005634nucleus IDA16901784
    GO:0005654nucleoplasm TAS--
    GO:0032993protein-DNA complex IDA19465398

    HMGA2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HMGA2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Cellular responses to stress0.81
    2Packaging Of Telomere Ends
    DNA Damage/Telomere Stress Induced Senescence0.65
    Formation of Senescence-Associated Heterochromatin Foci (SAHF)0.00
    3Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    4MicroRNAs in cancer
    MicroRNAs in cancer
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for HMGA2
        Chromatin Regulation / Acetylation

    1 Reactome Pathway for HMGA2
        Formation of Senescence-Associated Heterochromatin Foci (SAHF)


    2 Kegg Pathways  (Kegg details for HMGA2):
        Transcriptional misregulation in cancer
    MicroRNAs in cancer


    HMGA2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HMGA2
    Interactions:

        GeneGlobe Interaction Network for HMGA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for HMGA2 (P529261, 3 ENSP000003840264) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRMT6Q96LA81, 3, ENSP000003551454EBI-912511,EBI-912440 I2D: score=2 STRING: ENSP00000355145
    NFKB1P198383, ENSP000002265744I2D: score=3 STRING: ENSP00000226574
    CSNK2A2P197843, ENSP000002625064I2D: score=1 STRING: ENSP00000262506
    NPM1P067483, ENSP000002969304I2D: score=1 STRING: ENSP00000296930
    SMAD3P840223, ENSP000003329734I2D: score=1 STRING: ENSP00000332973
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 62):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA14627817
    GO:0000737DNA catabolic process, endonucleolytic IDA19465398
    GO:0001837epithelial to mesenchymal transition IMP18832382
    GO:0002062chondrocyte differentiation IDA--
    GO:0003131mesodermal-endodermal cell signaling IMP17624332

    HMGA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HMGA2

    7 Novoseek inferred chemical compound relationships for HMGA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hmga 94.4 22 12930952 (2), 16056249 (2), 11576996 (1), 14645522 (1) (see all 17)
    dbds 52.8 1 11034995 (1)
    paraffin 8.69 2 19262251 (1)
    actinomycin d 0 1 9312114 (1)
    cisplatin 0 1 17222355 (1)
    doxorubicin 0 9 16061642 (4), 17222355 (3)
    retinoic acid 0 12 10344762 (3), 15650238 (1)



    HMGA2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HMGA2 gene (3 alternative transcripts): 
    NM_003483.4  NM_003484.1  NM_001015886.1  

    Unigene Cluster for HMGA2:

    High mobility group AT-hook 2
    Hs.505924  [show with all ESTs]
    Unigene Representative Sequence: AB209853
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403681(uc001ssx.3) ENST00000537275(uc010ssv.1) ENST00000393578
    ENST00000537429(uc001sss.1) ENST00000425208(uc001sst.1) ENST00000536545(uc001ssu.1)
    ENST00000354636(uc001ssv.3) ENST00000545998 ENST00000541363(uc001ssw.1)
    ENST00000393577(uc001ssp.1) ENST00000539662(uc001ssy.3)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB209853.1 AF533652.1 AF533653.1 AF533654.1 AK311399.1 AK311443.1 AK311447.1 AY387667.1 
    AY601861.1 AY601863.1 AY601864.1 AY601865.1 AY601866.1 AY601867.1 EU263623.1 FJ469146.1 
    JF268496.1 U28749.1 U29112.1 U29113.1 U29114.1 U29115.1 U29120.1 Z31595.1 

    16 DOTS entries:

    DT.75106085  DT.70104951  DT.75184403  DT.95235329  DT.91741622  DT.75171619  DT.121179198  DT.121179242 
    DT.100770504  DT.75167847  DT.95368610  DT.121179237  DT.121179239  DT.91803500  DT.92458188  DT.95222731 

    Selected AceView cDNA sequences (see all 175):

    CB143702 AU151888 AW862562 AU123955 AI803639 AU129812 BM999409 BQ213973 
    BM905079 CB132509 AA305713 AW957685 BU172379 BM782659 BU739975 CA422738 
    BU156305 U29115 BG120434 BM478410 AU125914 AA427962 N44774 AI056193 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HMGA2 expression in normal human tissues (normalized intensities)      HMGA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCACCGAG
    HMGA2 Expression
    About this image


    HMGA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
             Islets of Langerhans
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Basal Cells Respiratory Bronchioles
             Trachea
    HMGA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HMGA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505924
        Custom PCR Arrays for HMGA2
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HMGA2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hmga25 high mobility group AT-hook 2   --   10 (67.94 cM) 120361275 
    chicken
    (Gallus gallus)
    Aves HMGA21 high mobility group AT-hook 2 82.87(n)
    91.74(a)
      395851  NM_205001.1  NP_990332.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMGA26
    high mobility group AT-hook 2
    93(a)
    1 ↔ 1
    GL343256.1(99086-231029)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.338712 Xenopus laevis transcribed sequences 80.33(n)    BJ639832.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hmga26
    high mobility group AT-hook 2
    48(a)
    1 ↔ 1
    4(11883794-11926611) ENSDARG00000069912


    ENSEMBL Gene Tree for HMGA2 (if available)
    TreeFam Gene Tree for HMGA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HMGA2 gene
    Selected SIMAP similar genes for HMGA2 using alignment to 6 protein entries:     HMGA2_HUMAN (see all proteins) (see all similar genes):
    HMGIC    HMGA2/RAD51L1 fusion    HMGA2/WIF1 fusion    LAMB4    SLC4A8    BTBD2
    AURA2    C4orf22    ERBB2    TMEM14B    CASP7    FAM175A
    NF2    RUFY1    FP1523    AGBL3    BECN1    MYB

    HMGA2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for HMGA2 (see all 2003)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1138834251,2
    C,F--63269294(+) CTGTGC/TTTCTC 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1869330071,2
    --63269353(+) GCTGAC/TCTCTG 2 -- us2k10--------
    rs2003676781,2
    C--63269370(+) TTACC-/AAAAAA 2 -- us2k10--------
    rs785408571,2
    C,F--63269449(+) CTGCAT/CTCACC 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs124271871,2
    H--63269459(+) CTTCAA/GAATTT 2 -- us2k10--------
    rs1432727141,2
    --63269498(+) ACAACA/GCAAAC 2 -- us2k10--------
    rs1124838961,2
    C,F--63269504(+) CAAACC/ACAAAA 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs96688081,2
    C,F,A--63269514(+) AACCTA/GTTTTG 2 -- us2k13Minor allele frequency- G:0.22WA NA EA 358
    rs1152222781,2
    C,F--63270284(+) AGGGAG/AAGTTG 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs65816581,2
    C,F,A,H--63270347(+) GGAACA/GTCGGA 2 -- us2k117Minor allele frequency- G:0.23NS EA NA CSA WA 2338

    HapMap Linkage Disequilibrium report for HMGA2 (66217911 - 66360075 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HMGA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507649CNV Insertion20534489
    esv8071CNV Gain19470904

    Human Gene Mutation Database (HGMD): HMGA2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HMGA2
    DNA2.0 Custom Variant and Variant Library Synthesis for HMGA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600698   
    OMIM disorders: 150699  
    UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926
  • 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
  • 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
  • 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
  • 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

  • Selected diseases for HMGA2 (see all 92):    About MalaCards
    diffuse lipomatosis    12q14 microdeletion syndrome    mesenchymoma    benign mesenchymoma
    lipoadenoma    encephalocraniocutaneous lipomatosis    leiomyoma, uterine, somatic    nodular tenosynovitis
    lipomatosis    miller fisher syndrome    pelvic lipomatosis    ring chromosome 1
    atypical lipomatous tumor    dedifferentiated liposarcoma    lipoma    chondroma
    myxoid liposarcoma    liposarcoma    myoma    non-functioning pituitary adenoma

    10 diseases from the University of Copenhagen DISEASES database for HMGA2:
    Lipoma     Pelvic lipomatosis     Uterine fibroid     Guillain-Barre syndrome
    Cancer     Pleomorphic adenoma     Diffuse lipomatosis     Lipodystrophy
    Adenoma     Leiomyoma

    HMGA2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for HMGA2 gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipoma 88.6 121 18663748 (5), 19431195 (5), 10329012 (5), 12781451 (5) (see all 52)
    uterine leiomyoma 81.6 58 12419585 (4), 11223542 (4), 10679920 (3), 10550310 (3) (see all 28)
    salivary gland adenoma, pleomorphic 79.5 2 8908160 (1), 17171686 (1)
    hamartoma 76.8 18 8637707 (2), 10744071 (2), 8603366 (1), 8780755 (1) (see all 15)
    adenoma pleomorphic 76.7 21 9484777 (4), 8988031 (3), 18604193 (2), 10347561 (1) (see all 14)
    lipoma pleomorphic 74.5 3 8780755 (1), 8908160 (1), 15618963 (1)
    benign tumor 73.3 17 10347561 (1), 11576996 (1), 15882911 (1), 15755872 (1) (see all 14)
    liposarcoma dedifferentiated 70.7 2 18214854 (1), 19737942 (1)
    liposarcoma 66.9 7 14612541 (2), 11391797 (2), 17426251 (1), 17372913 (1)
    neoplastic transformation 65.7 3 18413806 (1), 16061642 (1), 14571323 (1)

    Genetic Association Database (GAD): HMGA2
    Human Genome Epidemiology (HuGE) Navigator: HMGA2 (22 documents)

    Export disorders for HMGA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HMGA2 gene, integrated from 10 sources (see all 378):
    (articles sorted by number of sources associating them with HMGA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic characterization of human HMGIC, a member of the accessory transcription factor family found at translocation breakpoints in lipomas. (PubMed id 8824803)1, 2, 3, 9 Ashar H.R.... Chada K. (Genomics 1996)
    2. A common variant of HMGA2 is associated with adult and childhood height in the general population. (PubMed id 17767157)1, 2, 4 Weedon M.N....Frayling T.M. (Nat. Genet. 2007)
    3. Extensive expression studies revealed a complex alternative splicing pattern of the HMGA2 gene. (PubMed id 15882911)1, 2, 9 Hauke S.... Bullerdiek J. (Biochim. Biophys. Acta 2005)
    4. Association of a high mobility group gene (HMGA2) variant with bone mineral density. (PubMed id 19376282)1, 4, 9 Kuipers A....Zmuda J.M. (Bone 2009)
    5. Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. (PubMed id 12649198)1, 2, 9 Quade B.J....Morton C.C. (Cancer Res. 2003)
    6. Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele. (PubMed id 19132395)1, 4, 9 Hodge J.C....Morton C.C. (Hum. Genet. 2009)
    7. HMGA2 is confirmed to be associated with human adult height. (PubMed id 19930247)1, 4, 9 Yang T.L....Deng H.W. (Ann. Hum. Genet. 2010)
    8. Transcriptional activation of the cyclin A gene by the architectural transcription factor HMGA2. (PubMed id 14645522)1, 2, 9 Tessari M.A.... Manfioletti G. (Mol. Cell. Biol. 2003)
    9. Expression of reciprocal fusion transcripts of the HMGIC and LPP genes in parosteal lipoma. (PubMed id 9772904)1, 2, 9 Petit M.M.... Van de Ven W.J.M. (Cancer Genet. Cytogenet. 1998)
    10. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4, 9 Weedon M.N....Frayling T.M. (Nat. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8091 HGNC: 5009 AceView: HMGA2 Ensembl:ENSG00000149948 euGenes: HUgn8091
    ECgene: HMGA2 Kegg: 8091 H-InvDB: HMGA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HMGA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HMGA2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HMGA2 gene:
    Search GeneIP for patents involving HMGA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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