Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
600698 5009 ENSG00000149948
Protein Protein information from UniProt database.
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.
  KEGG  Reactome
  Transcriptional misregulation in cancer
MicroRNAs in cancer
  Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Silver-Russell syndrome 1 Pathogenic rs1114167319, rs1114167320 RCV000491113
RCV000491565
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Silver-Russell syndrome 5 Pathogenic; Likely pathogenic rs2120807666, rs2498929809, rs1114167319, rs1114167320, rs2498933809, rs1876803958 RCV002227000
RCV002283710
RCV001174518
RCV001174519
RCV004545971
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
12Q14 MICRODELETION SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
12q14 microdeletion syndrome 12q14 microdeletion syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12851685
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 26319392, 31173171
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17477356, 26858029
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18843278
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of ampulla of Vater Adenocarcinoma BEFREE 28524160
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28710822
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28752530, 30535487
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma BEFREE 20597139
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16322327, 16885341, 18375116, 28152577, 30999005, 8908160, 9484777
★☆☆☆☆
Found in Text Mining only