HMGA2 (high mobility group AT-hook 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8091
Gene name High mobility group AT-hook 2
Gene symbol HMGA2
Synonyms (NCBI Gene)
BABLHMGI-CHMGICLIPOSRS5STQTL9
Chromosome 12
Chromosome location 12q14.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
858
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (858)
miRTarBase ID miRNA Experiments Reference
MIRT002323 hsa-let-7a-5p qRT-PCRWestern blot 17600087
MIRT002322 hsa-let-7c-5p qRT-PCRWestern blot 17600087
MIRT002097 hsa-let-7g-5p Western blot 18413726
MIRT002097 hsa-let-7g-5p Luciferase reporter assayWestern blotqRT-PCR 17600087
MIRT002097 hsa-let-7g-5p Luciferase reporter assayWestern blotqRT-PCR 17600087
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
Transcription factor Regulation Reference
BRCA1 Repression 20007691
SP1 Unknown 11802722
SP3 Unknown 11802722
ZNF350 Repression 20007691
ZNF382 Repression 20682794
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
112
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (112)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 14627817
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000228 Component Nuclear chromosome IEA
GO:0000228 Component Nuclear chromosome ISS
GO:0000785 Component Chromatin IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600698 5009 ENSG00000149948
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52926
Protein name High mobility group protein HMGI-C (High mobility group AT-hook protein 2)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02178 AT_hook 26 → 38 AT hook motif Motif
PF02178 AT_hook 46 → 58 AT hook motif Motif
PF02178 AT_hook 74 → 86 AT hook motif Motif
Sequence 
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSP
SKAAQKKAEATGEKRPRGRPRKWPQQVVQKKPAQEETEETSSQESAEED
Sequence length 109
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Transcriptional misregulation in cancer
MicroRNAs in cancer 		  Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Silver-Russell syndrome 1 Pathogenic rs1114167319, rs1114167320 RCV000491113
RCV000491565
Silver-Russell syndrome 5 Pathogenic; Likely pathogenic rs2120807666, rs2498929809, rs1114167319, rs1114167320, rs2498933809, rs1876803958 RCV002227000
RCV002283710
RCV001174518
RCV001174519
RCV004545971
RCV001174517
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HMGA2-related disorder Likely benign; Benign rs1448432644, rs2306436, rs77970919, rs772000269, rs74097833, rs151017786, rs55674630 RCV003911816
RCV003911402
RCV003939650
RCV003937096
RCV003972227
RCV003916201
RCV003913230
Uterine leiomyoma Uncertain significance rs1592471112 RCV000985215
Show/Hide Text Mining Associations (170)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrophobia Associate 19132395
Adenocarcinoma Stimulate 22613496
Adenocarcinoma Associate 37787719
Adenocarcinoma of Lung Associate 28752530, 32719345, 34236145
Adenoma Stimulate 30999005
Adenoma Pleomorphic Associate 11839563, 18604193, 22485045, 23630011, 24893972, 25439740, 27379604, 29135520, 29437290, 34176176, 34986855
Adenosarcoma of the uterus Associate 26592504, 27255164
Ascites Associate 22790015
Astrocytoma Associate 40379848
Atelosteogenesis type 2 Associate 16567472