Reviewed, UniProtKB/Swiss-Prot P52926 (HMGA2_HUMAN)

Names and origin

Protein names

Recommended name:
    High mobility group protein HMGI-C
Alternative name(s):
    High mobility group AT-hook protein 2

Gene names

Name:	HMGA2
Synonyms:	HMGIC

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	109 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2.
Subunit structure	Interacts with E4F1.
Subcellular location	Nucleus.
Developmental stage	Expressed predominantly during embryogenesis.
Post-translational modification	Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity.
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.
Involvement in disease	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. 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. 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 not seem to be the principle pathobiological mechanism in uterine leiomyoma.
Sequence similarities	Belongs to the HMGA family. Contains 3 A.T hook DNA-binding domains.

Ontologies

Keywords
Biological process	Cell cycle Cell division Growth regulation Mitosis Transcription Transcription regulation
Cellular component	Chromosomal protein Nucleus
Coding sequence diversity	Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Repeat
Ligand	DNA-binding
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	cell division Inferred from electronic annotation. Source: UniProtKB-KW establishment or maintenance of chromatin architecture Traceable author statement. Source: ProtInc mitosis Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Traceable author statement. Source: ProtInc regulation of cell growth Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Traceable author statement. Source: ProtInc
Cellular component	chromatin Inferred from electronic annotation. Source: InterPro
Molecular function	AT DNA binding Traceable author statement. Source: ProtInc protein binding Inferred from physical interaction. Source: IntAct transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PRMT6	Q96LA8	1	EBI-912511,EBI-912440

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 109	109	High mobility group protein HMGI-C		PRO_0000206711
Regions
	DNA binding	24 – 34	11	A.T hook 1
	DNA binding	44 – 54	11	A.T hook 2
	DNA binding	71 – 82	12	A.T hook 3
	Region	44 – 63	20	Interaction with E4F1
Amino acid modifications
	Modified residue	105	1	Phosphoserine By similarity

Sequences

	Sequence		Length	Mass (Da)
	P52926-1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: F36BABE623DA4615	FASTA	109	11,832
	10 20 30 40 50 60 MSARGEGAGQ PSTSAQGQPA APAPQKRGRG RPRKQQQEPT GEPSPKRPRG RPKGSKNKSP 70 80 90 100 SKAAQKKAEA TGEKRPRGRP RKWPQQVVQK KPAQEETEET SSQESAEED

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Expression and cDNA cloning of human HMGI-C phosphoprotein." Patel U.A., Bandiera A., Manfioletti G., Giancotti V., Chau K.-Y., Crane-Robinson C. Biochem. Biophys. Res. Commun. 201:63-70(1994) [PubMed: 8198613] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Hepatoma.
[2]	"Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours." Schoenmakers E.F.P.M., Wanschura S., Mols R., Bullerdiek J., van den Berghe H., van de Ven W.J.M. Nat. Genet. 10:436-444(1995) [PubMed: 7670494] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]	"The gene for the human architectural transcription factor HMGI-C consists of five exons each coding for a distinct functional element." Chau K.-Y., Patel U.A., Lee K.-L.D., Lam H.-Y.P., Crane-Robinson C. Nucleic Acids Res. 23:4262-4266(1995) [PubMed: 7501444] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Genomic characterization of human HMGIC, a member of the accessory transcription factor family found at translocation breakpoints in lipomas." Ashar H.R., Cherath L., Przysybz K., Chada K. Genomics 31:207-214(1996) [PubMed: 8824803] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Expression of reciprocal fusion transcripts of the HMGIC and LPP genes in parosteal lipoma." Petit M.M., Swarts S., Bridge J.A., Van de Ven W.J.M. Cancer Genet. Cytogenet. 106:18-23(1998) [PubMed: 9772904] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH LPP.
[7]	"Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas." Schoenmakers E.F.P.M., Huysmans C., Van de Ven W.J.M. Cancer Res. 59:19-23(1999) [PubMed: 9892177] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH RAD51L1.
[8]	"An identical HMGIC-LPP fusion transcript is consistently expressed in pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15)." Rogalla P., Lemke I., Kazmierczak B., Bullerdiek J. Genes Chromosomes Cancer 29:363-366(2000) [PubMed: 11066083] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH LPP.
[9]	"Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15." Quade B.J., Weremowicz S., Neskey D.M., Vanni R., Ladd C., Dal Cin P., Morton C.C. Cancer Res. 63:1351-1358(2003) [PubMed: 12649198] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH RAD51L1.
[10]	"Transcriptional activation of the cyclin A gene by the architectural transcription factor HMGA2." Tessari M.A., Gostissa M., Altamura S., Sgarra R., Rustighi A., Salvagno C., Caretti G., Imbriano C., Mantovani R., Del Sal G., Giancotti V., Manfioletti G. Mol. Cell. Biol. 23:9104-9116(2003) [PubMed: 14645522] [Abstract] Cited for: FUNCTION, INTERACTION WITH E4F1.
[11]	"A common variant of HMGA2 is associated with adult and childhood height in the general population." The Diabetes Genetics Initiative, The Wellcome Trust case control consortium Weedon M.N., Lettre G., Freathy R.M., Lindgren C.M., Voight B.F., Perry J.R.B., Elliott K.S., Hackett R., Guiducci C., Shields B., Zeggini E., Lango H., Lyssenko V., Timpson N.J., Burtt N.P., Rayner N.W., Saxena R., Ardlie K. , Tobias J.H., Ness A.R., Ring S.M., Palmer C.N.A., Morris A.D., Peltonen L., Salomaa V., Smith G.D., Groop L.C., Hattersley A.T., McCarthy M.I., Hirschhorn J.N., Frayling T.M. Nat. Genet. 39:1245-1250(2007) [PubMed: 17767157] [Abstract] Cited for: INVOLVEMENT IN STQTL9.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	Z31595 mRNA. Translation: CAA83472.1. U28749 mRNA. Translation: AAA68613.1. U28754 , U28750, U28751, U28752, U28753 Genomic DNA. Translation: AAA68614.1. L46353, L41044, L44578 Genomic DNA. Translation: AAA96484.1. X92518 mRNA. Translation: CAA63295.1. AC090673 Genomic DNA. No translation available. AC107308 Genomic DNA. No translation available.
PIR	JC2232.
RefSeq	NP_003474.1. NP_003475.1.
UniGene	Hs.505924
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P52926.
PTM databases
PhosphoSite	P52926.
Genome annotation databases
Ensembl	ENSG00000149948. Homo sapiens. [Contig view]
GeneID	8091.
KEGG	hsa:8091.
Organism-specific databases
H-InvDB	HIX0036730.
HGNC	HGNC:5009. HMGA2.
HPA	CAB017809.
MIM	150699. phenotype. 600698. gene. 611547. phenotype.
PharmGKB	PA35093.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	P52926.
Gene expression databases
CleanEx	HS_HMGA2.
Family and domain databases
InterPro	IPR000637. AT_hook_DNA_bd. IPR000116. Highmoblty_IY. [Graphical view]
Pfam	PF02178. AT_hook. 3 hits. [Graphical view]
PRINTS	PR00929. ATHOOK. PR00930. HIGHMOBLTYIY.
ProDom	PD005593. Highmoblty_IY. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00384. AT_hook. 3 hits. [Graphical view]
PROSITE	PS00354. HMGI_Y. 2 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	30727.
SOURCE	Search...

Entry information

Entry name

HMGA2_HUMAN

Accession

Primary (citable) accession number: P52926

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	November 25, 2008
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)