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Aliases & Descriptions for HMGA2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BABL 1 , 2 , 5 HMGI-C 2 HMGIC 2 , 3 , 5 LIPO 1 , 2 , 5 STQTL9 2
Descriptions High mobility group AT-hook protein 2 3 High-mobility group protein HMGI-C 2 high mobility group AT-hook 2 2 high-mobility group (nonhistone chromosomal) protein isoform I-C 1 , 2
Search outside databases for aliases for HMGA2 genePrevious GC identifers: GC12P065624 GC12P066105 GC12P065934
Summaries for HMGA2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for HMGA2 : 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 theenhancesome. This protein contains structural DNA-binding domains and may act as a transcriptionalregulating factor. Identification of the deletion, amplification, and rearrangement of this genethat are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymaldifferentiation. A gene knock out study of the mouse counterpart demonstrated that this gene isinvolved in diet-induced obesity. Alternate transcriptional splice variants, encoding differentisoforms, have been characterized. [provided by RefSeq] UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926 Function : Functions as a transcriptional regulator. Functions in cell cycle regulation throughCCNA2
Gene Wiki entry for HMGA2
Genomic Location for HMGA2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
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UCSC and
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Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the HMGA2 gene 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) GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12P064504:
(about GC identifiers )
Start:
64,504,507 bp from pter
End:
64,646,338 bp from pter
Size:
141,832 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000012.10 NT_029419.11 Proteins for HMGA2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
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Sigma-Aldrich ,
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OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
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R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
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R&D Systems ,
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Abnova , and/or
Novus Biologicals )
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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
Subcellular location : Nucleus
Developmental stage : Expressed predominantly during embryogenesis
Post-translational modifications:
Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_003474.1 NP_003475.1 ENSEMBL proteins: ENSP00000377206 ENSP00000346658 ENSP00000377205 ENSP00000384026 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: HMGA2 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for HMGA2: Assays for HMGA2:
Protein
Domains/ Families for HMGA2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P52926 ProtoNet protein and cluster: P52926
1 Blocks protein family : IPB000116 High mobility group protein (HMGY) signature UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926 Similarity : Belongs to the HMGA familySimilarity : Contains 3 A.T hook DNA-binding domains
Gene Function for HMGA2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
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Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_003483 Applied Biosystems Silencer ® siRNAs for HMGA2 Sigma-Aldrich siRNA for HMGA2 Sigma-Aldrich shRNA for HMGA2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_003483                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_003483                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001015886  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003483 UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926 Function : Functions as a transcriptional regulator. Functions in cell cycle regulation throughCCNA2
12 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Hmga2) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for HMGA2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for HMGA2 5/22 Interacting proteins for HMGA2 (ENSP00000346658 3 P52926 1 ) via UniProtKB, MINT, and/or STRING (see all 22
)About this table 5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
):
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Drugs & Compounds for HMGA2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for HMGA2 1 Novoseek chemical compound relationship for HMGA2 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
dbds
55.24
1
11034995 (1)
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Transcripts for HMGA2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_003483 Sigma-Aldrich siRNA for HMGA2 Sigma-Aldrich shRNA for HMGA2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_003483 NM_003484
REFSEQ mRNAs for HMGA2 gene (2 alternative transcripts): NM_003483.4 NM_003484.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003483 NM_003484
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_003483                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_003483                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001015886  
Additional cDNA sequence: AB209853.1 AF533652.1 AF533653.1 AF533654.1 AK311399.1 AK311443.1 AK311447.1 AY138860.1 AY387667.1 AY601861.1 AY601863.1 AY601864.1 AY601865.1 AY601866.1 AY601867.1 EU263623.1 U28749.1 U29112.1 U29113.1 U29114.1 U29115.1 U29120.1 Z31595.1
17 DOTS entries : DT.75106085 DT.70104951 DT.75184403 DT.95235329 DT.91741622 DT.75171619 DT.121179198 DT.121179242 DT.75167847 DT.100770504 DT.95368610 DT.121179237 DT.121179239 DT.91803500 DT.121179195 DT.92458188 DT.95222731
24/175 AceView cDNA sequences (see all 175
):AA427962 BG120434 AU123955 BM905079 BU156305 AU151888 AI803639 AA375593 BM782659 BU739975 BU172379 BM715067 BU170551 BU166421 AI056193 CA422738 BM758678 CB143702 U29115 BM989530 AU129812 BQ213973 N44774 BU618588
highest scoring ESTs for HMGA2 :AA064767 AA064824 AA074195 AA074701 AA093525 AA171531 AA171778 AA197282 AA205853 AA223259
Unigene Cluster for HMGA2: High mobility group AT-hook 2 Hs.505924 [show with all ESTs ] Unigene Representative Sequence: AB209853 GeneLoc Exon Structure 4 Ensembl transcripts including schematic representations : ENST00000393578
ENST00000354636
ENST00000393577
ENST00000403681
Expression for HMGA2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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HMGA2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for HMGA2 1 / 2 / 3
11 probe-sets matching HMGA2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTGCACCGAGSOURCE GeneReport for Unigene cluster: Hs.505924 Expression variation in blood from EXPOLDB for HMGA2
Orthologs for HMGA2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for HMGA2 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for HMGA2 ENSEMBL Gene Tree for HMGA2 Paralogs for HMGA2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for HMGA2 gene HMGA1 2
SNPs/Variants for HMGA2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926 Polymorphism : Genetic variation in HMGA2 has been associated with stature as a quantitative trait(STQTL9) [MIM:611547]. Human height is a classic, highly heritable quantitative trait
HapMap Linkage Disequilibrium images for HMGA2 (up to first 250kb)
Disorders & Mutations for HMGA2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600698 UniProtKB/Swiss-Prot: HMGA2_HUMAN, P52926
A chromosomal aberration involving HMGA2 is associated with a subclass of benignmesenchymal tumors known as lipomas. Translocation t(3;12)(q27-q28;q13-q15) with LPP is shown inlipomas. HMGA2 is also fused with a number of other genes in lipomas A chromosomal aberration involving HMGA2 is associated with pulmonary chondroidhamartomas. Translocation t(3;12)(q27-q28;q14-q15) with LPP is detected in pulmonary chondroidhamartomas 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 A chromosomal aberration involving HMGA2 is found in uterine leiomyoma (UL) [MIM:150699].Translocation t(12;14)(q15;q23-24) with RAD51L1. Chromosomal rearrangements involving HMGA2 do notseem to be the principle pathobiological mechanism in uterine leiomyoma
10/52 Novoseek disease relationships for HMGA2 gene (see all 52
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
lipoma
88.07
102
18663748 (5), 10329012 (5), 12781451 (5), 9212729 (4) (see all 47 )
uterine leiomyoma
82.29
54
12419585 (4), 11223542 (4), 10679920 (3), 10550310 (3) (see all 26 )
salivary gland adenoma, pleomorphic
80.73
2
8908160 (1), 17171686 (1)
hamartoma
78.17
18
8637707 (2), 10744071 (2), 8603366 (1), 8780755 (1) (see all 15 )
adenoma pleomorphic
76.63
19
9484777 (4), 8988031 (3), 18604193 (2), 10347561 (1) (see all 12 )
benign tumor
72.00
17
10347561 (1), 11576996 (1), 15882911 (1), 15755872 (1) (see all 14 )
lipoma pleomorphic
70.81
3
8780755 (1), 8908160 (1), 15618963 (1)
neoplastic transformation
67.41
3
18413806 (1), 16061642 (1), 14571323 (1)
myxoma
66.12
13
11550285 (3), 16990720 (2), 16568309 (2), 11943015 (1) (see all 8 )
liposarcoma
63.81
7
14612541 (2), 11391797 (2), 17426251 (1), 17372913 (1)
About this table Human Gene Mutation Database : HMGA2 Human Genome Epidemiology Navigator: HMGA2 (7 documents)
Medical News for HMGA2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for HMGA2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/246 PubMed articles for HMGA2 gene (see all 246
): 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, 4 Ashar H.R.... Chada K. (1996) Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. (PubMed id 12649198) 1, 3, 4 Quade B.J....Morton C.C. (2003) Transcriptional activation of the cyclin A gene by the architectural transcription factor HMGA2. (PubMed id 14645522) 1, 3, 4 Tessari M.A....Manfioletti G. (2003) Expression of reciprocal fusion transcripts of the HMGIC and LPP genes in parosteal lipoma. (PubMed id 9772904) 1, 3, 4 Petit M.M.... Van de Ven W.J.M. (1998) Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas. (PubMed id 9892177) 1, 3, 4 Schoenmakers E.F.P.M.... Van de Ven W.J.M. (1999) A common variant of HMGA2 is associated with adult and childhood height in the general population. (PubMed id 17767157) 3, 4 Weedon M.N....Frayling T.M. (2007) An identical HMGIC-LPP fusion transcript is consistently expressed in pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15). (PubMed id 11066083) 3, 4 Rogalla P.... Bullerdiek J. (2000) The high mobility group I-C gene (HMGI-C): polymorphism and genetic localization. (PubMed id 9003504) 2, 3 Ishwad C.S....Ferrell R.E. (1997) The gene for the human architectural transcription factor HMGI-C consists of five exons each coding for a distinct functional element. (PubMed id 7501444) 3, 4 Chau K.-Y.... Crane-Robinson C. (1995) Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. (PubMed id 7670494) 3, 4 Schoenmakers E.F.P.M.... van de Ven W.J.M. (1995)
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Genome Databases showing HMGA2
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Ensembl ,
miRBase ,
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and/or
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Incremental update: 13 Oct 2009