HMGA2
entrez
8091
canonical
uniprot
P52926
canonical
ensembl
ENSG00000149948
resolver
ensp
ENSP00000346658
resolver
ensp
ENSP00000377205
resolver
ensp
ENSP00000377206
resolver
ensp
ENSP00000384026
resolver
ensp
ENSP00000437621
resolver
enst
ENST00000393577
resolver
enst
ENST00000536545
resolver
genesymbol
HMGA2
resolver
genesymbol_syn
HMGIC
resolver
hgnc
HGNC:5009
resolver
uniprot
E7EP85
resolver
uniprot
E7EWA2
resolver
uniprot
F5H2A4
resolver
uniprot
F5H6H0
resolver
uniprot
Q1M182
resolver
uniprot
Q1M183
resolver
uniprot
Q1M185
resolver
uniprot
Q1M186
resolver
uniprot
Q1M187
resolver
uniprot
Q1M188
resolver
uniprot_entry
F5H2A4_HUMAN
resolver
uniprot_entry
F5H6H0_HUMAN
resolver
uniprot_entry
HMGA2_HUMAN
resolver
uniprot_entry
Q1M183_HUMAN
resolver
uniprot_sec
E7EP85
resolver
uniprot_sec
E7EWA2
resolver
uniprot_sec
Q1M182
resolver
uniprot_sec
Q1M185
resolver
uniprot_sec
Q1M186
resolver
uniprot_sec
Q1M187
resolver
uniprot_sec
Q1M188
resolver
amino_acid_sequence
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWPQQVVQKKPAQEETEETSSQESAEED
uniprot
proteins
disease_involvement
DISEASE: Silver-Russell syndrome 5 (SRS5) [MIM:618908]: A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS5 inheritance is autosomal dominant. {ECO:0000269|PubMed:25809938, ECO:0000269|PubMed:28796236}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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}.; DISEASE: 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}.; DISEASE: 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}.; DISEASE: 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}.
uniprot
proteins
function
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). Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner (PubMed:28796236). {ECO:0000250|UniProtKB:P52927, ECO:0000269|PubMed:14645522, ECO:0000269|PubMed:28796236}.
uniprot
proteins
mass_dalton
11832
uniprot
proteins
post_translational_modification
PTM: Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity). {ECO:0000250|UniProtKB:P52927}.
uniprot
proteins
protein_family
HMGA family
uniprot
proteins
pubmed
11066083
uniprot
proteins
pubmed
12649198
uniprot
proteins
pubmed
14645522
uniprot
proteins
pubmed
15882911
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17767157
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
25809938
uniprot
proteins
pubmed
28796236
uniprot
proteins
pubmed
7501444
uniprot
proteins
pubmed
7670494
uniprot
proteins
pubmed
8198613
uniprot
proteins
pubmed
8824803
uniprot
proteins
pubmed
9772904
uniprot
proteins
pubmed
9892177
uniprot
proteins
sequence_length
109
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins