HMGA2 (high mobility group AT-hook 2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8091
Gene name Gene Name - the full gene name approved by the HGNC.
High mobility group AT-hook 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HMGA2
Synonyms (NCBI Gene) Gene synonyms aliases
BABL, HMGI-C, HMGIC, LIPO, SRS5, STQTL9
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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-PCR, Western blot 17600087
MIRT002322 hsa-let-7c-5p qRT-PCR, Western blot 17600087
MIRT002097 hsa-let-7g-5p Western blot 18413726
MIRT002097 hsa-let-7g-5p Luciferase reporter assay, Western blot, qRT-PCR 17600087
MIRT002097 hsa-let-7g-5p Luciferase reporter assay, Western blot, qRT-PCR 17600087
Transcription factors
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600698 5009 ENSG00000149948
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Silver-Russell Syndrome Silver-Russell syndrome 1, Silver-Russell syndrome 5 rs1114167319, rs1114167320 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes (PheCode 250.2), Type 2 diabetes or schizophrenia (pleiotropy), Type 2 diabetes N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Melanoma Melanoma N/A N/A GWAS
Show/Hide Text Mining Associations (170)
Associations from Text Mining Disease 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