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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 domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement ... See more...
Aliases for HMGA2 Gene
Aliases for HMGA2 Gene
External Ids for HMGA2 Gene
- HGNC: 5009
- Entrez Gene: 8091
- Ensembl: ENSG00000149948
- OMIM: 600698
- UniProtKB: P52926
Previous HGNC Symbols for HMGA2 Gene
- HMGIC
Previous GeneCards Identifiers for HMGA2 Gene
- GC12P065624
- GC12P066105
- GC12P065934
- GC12P064504
- GC12P066218
- GC12P063271
Summaries for HMGA2 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 domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for HMGA2 Gene
HMGA2 (High Mobility Group AT-Hook 2) is a Protein Coding gene. Diseases associated with HMGA2 include Silver-Russell Syndrome 5 and Salivary Gland Adenoma, Pleomorphic. Among its related pathways are Transcriptional misregulation in cancer and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include enzyme binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is LYRM4.
UniProtKB/Swiss-Prot Summary for HMGA2 Gene
-
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).
Additional gene information for HMGA2 Gene
- HGNC(5009)
- Entrez Gene(8091)
- Ensembl(ENSG00000149948)
- OMIM(600698)
- UniProtKB(P52926)
- Open Targets Platform(ENSG00000149948)
- Monarch Initiative
- Search for HMGA2 at DataMed
- Search for HMGA2 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HMGA2 Gene
Genomics for HMGA2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HMGA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HMGA2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMGA2
- Top Transcription factor binding sites by QIAGEN in the HMGA2 gene promoter:
-
- PPAR-gamma1
- TBP
- TFIID
Genomic Locations for HMGA2 Gene
Genomic Locations for HMGA2 Gene
- chr12:65,824,131-65,966,295
- (GRCh38/hg38)
- Size:
- 142,165 bases
- Orientation:
- Plus strand
- chr12:66,217,911-66,360,075
- (GRCh37/hg19)
- Size:
- 142,165 bases
- Orientation:
- Plus strand
Genomic View for HMGA2 Gene
Genes around HMGA2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q14.3 by HGNC
- 12q14.3 by Entrez Gene
- 12q14.3 by Ensembl
HMGA2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HMGA2 Gene
Proteins for HMGA2 Gene
-
Protein details for HMGA2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P52926-HMGA2_HUMAN
- Recommended name:
- High mobility group protein HMGI-C
- Protein Accession:
- P52926
- E7EP85
- E7EWA2
- Q1M182
- Q1M185
- Q1M186
- Q1M187
- Q1M188
Protein attributes for HMGA2 Gene
- Size:
- 109 amino acids
- Molecular mass:
- 11832 Da
- Quaternary structure:
-
- Interacts with E4F1 (PubMed:14645522). Interacts with NEK2 (By similarity).
Protein Expression for HMGA2 Gene
Post-translational modifications for HMGA2 Gene
- Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for HMGA2 Gene
Antibody Products
- G Biosciences Immunotag™ HMGA2 Antibody
- NSJ Bioreagents HMGA2 Antibody
- Novus Biologicals Antibodies for HMGA2
-
Abcam antibodies for HMGA2
- Invitrogen Antibodies for HMGA2 (AFLGC-Hmga2)
-
Boster Bio Antibodies for HMGA2
-
Santa Cruz Biotechnology (SCBT) Antibodies for HMGA2
- Sino Biological Antibodies for HMGA2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HMGA2
- Origene Custom Protein Services for HMGA2
- ProSpec Recombinant Proteins for HMGA2
-
Signalway Proteins for HMGA2
-
Abcam proteins for HMGA2
Assay Products
No data available for DME Specific Peptides for HMGA2 Gene
Domains & Families for HMGA2 Gene
Gene Families for HMGA2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for HMGA2 Gene
- InterPro:
- Blocks:
-
- High mobility group protein (HMGY) signature
- ProtoNet:
Suggested Antigen Peptide Sequences for HMGA2 Gene
- GenScript: Design optimal peptide antigens:
-
- High mobility group AT-hook protein 2 (HMGA2_HUMAN)
- HMGA2e' (Q1M183_HUMAN)
- High-mobility group protein isoform C (Q8IZX8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P52926- Family:
-
- Belongs to the HMGA family.
Function for HMGA2 Gene
Molecular function for HMGA2 Gene
- UniProtKB/Swiss-Prot 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).
Phenotypes From GWAS Catalog for HMGA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 17426251 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 14627817 |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 14627817 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 18832382 |
| GO:0003677 | DNA binding | IEA,NAS | 8198613 |
Phenotypes for HMGA2 Gene
- GenomeRNAi human phenotypes for HMGA2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HMGA2 - Select products 50% OFF >
- * HMGA2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HMGA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGA2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMGA2
miRNA for HMGA2 Gene
- miRTarBase miRNAs that target HMGA2
-
- hsa-miR-26a-5p (MIRT000109)
- hsa-miR-125b-5p (MIRT000348)
- hsa-miR-34a-5p (MIRT000748)
- hsa-let-7d-5p (MIRT002005)
- mmu-let-7a-5p (MIRT002019)
- hsa-let-7e-5p (MIRT002081)
- hsa-let-7b-5p (MIRT002082)
- hsa-let-7g-5p (MIRT002097)
- hsa-let-7c-5p (MIRT002322)
- hsa-let-7a-5p (MIRT002323)
- hsa-miR-98-5p (MIRT002999)
- hsa-miR-370-3p (MIRT003713)
- mmu-miR-196a-5p (MIRT004002)
- hsa-miR-185-5p (MIRT004702)
- hsa-miR-29b-3p (MIRT006054)
- hsa-miR-196a-5p (MIRT006803)
- hsa-miR-16-5p (MIRT006804)
- hsa-miR-15a-5p (MIRT006805)
- hsa-miR-204-5p (MIRT024977)
- hsa-miR-760 (MIRT036768)
- hsa-let-7f-5p (MIRT051403)
- hsa-miR-154-5p (MIRT053326)
- hsa-miR-3199 (MIRT066442)
- hsa-miR-8052 (MIRT066450)
- hsa-miR-25-3p (MIRT066473)
- hsa-miR-32-5p (MIRT066474)
- hsa-miR-92a-3p (MIRT066475)
- hsa-let-7i-5p (MIRT066476)
- hsa-miR-363-3p (MIRT066477)
- hsa-miR-367-3p (MIRT066478)
- hsa-miR-196b-5p (MIRT066479)
- hsa-miR-491-5p (MIRT066480)
- hsa-miR-92b-3p (MIRT066481)
- hsa-miR-1296-3p (MIRT066482)
- hsa-miR-4257 (MIRT066485)
- hsa-miR-4458 (MIRT066487)
- hsa-miR-4461 (MIRT066488)
- hsa-miR-4500 (MIRT066489)
- hsa-miR-4727-3p (MIRT066490)
- hsa-miR-6847-5p (MIRT066496)
- hsa-miR-6857-5p (MIRT066497)
- hsa-miR-6869-5p (MIRT066498)
- hsa-miR-33a-5p (MIRT066499)
- hsa-miR-33b-5p (MIRT066509)
- hsa-miR-142-3p (MIRT066518)
- hsa-let-7c-3p (MIRT066526)
- hsa-miR-508-3p (MIRT066527)
- hsa-miR-648 (MIRT066528)
- hsa-miR-2052 (MIRT066529)
- hsa-miR-3529-3p (MIRT066530)
- hsa-miR-365a-5p (MIRT274478)
- hsa-miR-365b-5p (MIRT274479)
- hsa-miR-145-5p (MIRT437833)
- hsa-miR-23b-3p (MIRT438260)
- hsa-miR-493-5p (MIRT507014)
- hsa-let-7g-3p (MIRT507015)
- hsa-let-7a-2-3p (MIRT507016)
- hsa-miR-19b-2-5p (MIRT507017)
- hsa-miR-19b-1-5p (MIRT507018)
- hsa-miR-19a-5p (MIRT507019)
- hsa-miR-4445-5p (MIRT507020)
- hsa-miR-1244 (MIRT507021)
- hsa-miR-219a-5p (MIRT507022)
- hsa-miR-4782-3p (MIRT507023)
- hsa-miR-6766-3p (MIRT507024)
- hsa-miR-3143 (MIRT557270)
- hsa-miR-4450 (MIRT557271)
- hsa-miR-4262 (MIRT557272)
- hsa-miR-181d-5p (MIRT557273)
- hsa-miR-181c-5p (MIRT557274)
- hsa-miR-181b-5p (MIRT557275)
- hsa-miR-181a-5p (MIRT557276)
- hsa-miR-543 (MIRT557277)
- mmu-miR-33-5p (MIRT732197)
- hsa-miR-490-3p (MIRT732551)
- rno-let-7d-3p (MIRT732817)
- hsa-miR-33b-3p (MIRT733106)
- hsa-miR-633 (MIRT733673)
- hsa-miR-495-3p (MIRT734067)
- hsa-miR-107 (MIRT734676)
- hsa-miR-485-5p (MIRT734733)
- hsa-miR-1297 (MIRT734816)
- hsa-miR-106a-5p (MIRT735431)
- hsa-miR-10a-3p (MIRT735850)
- hsa-miR-1245b-3p (MIRT736349)
- hsa-miR-1252-3p (MIRT736504)
- hsa-miR-1304-5p (MIRT737277)
- hsa-miR-16-1-3p (MIRT737970)
- hsa-miR-17-3p (MIRT737997)
- hsa-miR-194-5p (MIRT738607)
- hsa-miR-202-3p (MIRT738791)
- hsa-miR-222-5p (MIRT739087)
- hsa-miR-30a-3p (MIRT739727)
- hsa-miR-30d-3p (MIRT739903)
- hsa-miR-30e-3p (MIRT739916)
- hsa-miR-3191-5p (MIRT741000)
- hsa-miR-326 (MIRT741271)
- hsa-miR-330-5p (MIRT741329)
- hsa-miR-335-3p (MIRT741342)
- hsa-miR-3662 (MIRT741996)
- hsa-miR-3688-3p (MIRT742222)
- hsa-miR-3978 (MIRT743228)
- hsa-miR-4261 (MIRT743475)
- hsa-miR-4418 (MIRT744151)
- hsa-miR-4720-3p (MIRT747535)
- hsa-miR-4738-3p (MIRT748019)
- hsa-miR-4775 (MIRT748705)
- hsa-miR-4796-3p (MIRT748970)
- hsa-miR-4804-3p (MIRT749023)
- hsa-miR-490-5p (MIRT749189)
- hsa-miR-5003-3p (MIRT749390)
- hsa-miR-506-5p (MIRT749599)
- hsa-miR-509-3-5p (MIRT749668)
- hsa-miR-509-5p (MIRT749704)
- hsa-miR-518c-5p (MIRT749903)
- hsa-miR-548ah-3p (MIRT750511)
- hsa-miR-548am-3p (MIRT750538)
- hsa-miR-548ar-3p (MIRT750583)
- hsa-miR-548o-3p (MIRT750770)
- hsa-miR-5681b (MIRT751162)
- hsa-miR-591 (MIRT751580)
- hsa-miR-627-3p (MIRT752625)
- hsa-miR-629-3p (MIRT752642)
- hsa-miR-6502-3p (MIRT752911)
- hsa-miR-6760-5p (MIRT754925)
- hsa-miR-6764-3p (MIRT755043)
- hsa-miR-6824-3p (MIRT756935)
- hsa-miR-6830-3p (MIRT757121)
- hsa-miR-6878-5p (MIRT758206)
- hsa-miR-892c-5p (MIRT760456)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGA2
- Browse OriGene Inhibitory RNA Products For HMGA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGA2
Clone Products
- Applied Biological Materials (abm): Clones for HMGA2 - Select products 50% OFF >
- * HMGA2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG221841
- MR221841
- MR221841L3
- MR221841L4
- RC214629
- RC214629L1
- RC214629L2
- RC214629L3
- RC214629L4
- RC214681
- RC214681L3
- RC214681L4
- RC235760
- RC236056
- RG214629
- RG214681
- RR212261
- RR212261L3
- RR212261L4
- MR221841L3V
- MR221841L4V
- RC214629L1V
- RC214629L2V
- RC214629L3V
- RC214629L4V
- RC214681L3V
- RC214681L4V
- RR212261L3V
- RR212261L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HMGA2
- Addgene plasmids for HMGA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGA2
Cell Line Products
-
Horizon Cell Lines for HMGA2
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HMGA2 Gene
Localization for HMGA2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HMGA2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Nucleoli (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | ISS | -- |
| GO:0000785 | chromatin | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 16901784 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0032993 | protein-DNA complex | IDA | 19465398 |
Pathways & Interactions for HMGA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cellular Senescence (REACTOME) | ||
| 2 | DNA Damage/Telomere Stress Induced Senescence | ||
| 3 | Chromatin Regulation / Acetylation | ||
| 4 | MicroRNAs in cancer | ||
| 5 | Transcriptional misregulation in cancer | ||
Pathways by source for HMGA2 Gene
1 BioSystems pathway for HMGA2 Gene
4 Reactome pathways for HMGA2 Gene
2 KEGG pathways for HMGA2 Gene
1 Cell Signaling Technology pathway for HMGA2 Gene
1 GeneTex pathway for HMGA2 Gene
Interacting Proteins for HMGA2 Gene
Selected Interacting proteins:
P52926-HMGA2_HUMAN
ENSP00000437621
for HMGA2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HMGA2
SIGNOR curated interactions for HMGA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 14627817 |
| GO:0001837 | epithelial to mesenchymal transition | IMP | 18832382 |
| GO:0002062 | chondrocyte differentiation | IDA | 21484705 |
| GO:0003131 | mesodermal-endodermal cell signaling | IMP | 17624332 |
| GO:0006284 | base-excision repair | IBA,IDA | 19465398 |
Transcripts for HMGA2 Gene
mRNA/cDNA for HMGA2 Gene
- 6 REFSEQ mRNAs :
- 28 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000354636 1529 nts (view in UCSC)
- ENST00000393577 611 nts (view in UCSC)
- ENST00000393578 1993 nts (view in UCSC)
- ENST00000403681 4473 nts (view in UCSC)
- ENST00000425208 1444 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HMGA2 - Select products 50% OFF >
- * HMGA2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HMGA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGA2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMGA2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGA2
- Browse OriGene Inhibitory RNA Products For HMGA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGA2
Clone Products
- Applied Biological Materials (abm): Clones for HMGA2 - Select products 50% OFF >
- * HMGA2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG221841
- MR221841
- MR221841L3
- MR221841L4
- RC214629
- RC214629L1
- RC214629L2
- RC214629L3
- RC214629L4
- RC214681
- RC214681L3
- RC214681L4
- RC235760
- RC236056
- RG214629
- RG214681
- RR212261
- RR212261L3
- RR212261L4
- MR221841L3V
- MR221841L4V
- RC214629L1V
- RC214629L2V
- RC214629L3V
- RC214629L4V
- RC214681L3V
- RC214681L4V
- RR212261L3V
- RR212261L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HMGA2
- Addgene plasmids for HMGA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGA2
Relevant External Links for HMGA2 Gene
- GeneLoc Exon Structure for
- HMGA2
Expression for HMGA2 Gene
This gene is overexpressed in Amniocyte (48.6) and Fetal ovary (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HMGA2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMGA2
SOURCE GeneReport for Unigene cluster for HMGA2 Gene:
Hs.505924Evidence on tissue expression from TISSUES for HMGA2 Gene
- Blood(2.6)
- Liver(2.4)
- Skin(2.4)
- Intestine(2.3)
- Nervous system(2.3)
- Muscle(2.3)
- Kidney(2.3)
- Lymph node(2.2)
- Spleen(2.2)
- Heart(2.1)
- Lung(2.1)
- Bone marrow(2.1)
- Pancreas(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HMGA2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- reproductive
- skeleton
Regions:
Head and neck:
- brain
- head
Pelvis:
- uterus
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for HMGA2
-
OriGene qPCR primer pairs and template standards for HMGA2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HMGA2 Gene
Orthologs for HMGA2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Cow (Bos Taurus) |
Mammalia | HMGA2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hmga2 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | HMGA2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HMGI-C 31 |
|
OneToOne | |
| HMGA2 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | HMGA2 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33871 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.8936 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hmga2 31 |
|
OneToOne |
- Species where no ortholog for HMGA2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Dog (Canis familiaris)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for HMGA2 Gene
- ENSEMBL:
- Gene Tree for HMGA2 (if available)
- TreeFam:
- Gene Tree for HMGA2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HMGA2: view image
Paralogs for HMGA2 Gene
(45) SIMAP similar genes for HMGA2 Gene using alignment to 6 proteins:
- HMGA2_HUMAN
- F5H2A4_HUMAN
- F5H2U8_HUMAN
- F5H6H0_HUMAN
- H0YFY4_HUMAN
- Q1M183_HUMAN
- HMGIC
- HMGA2/RAD51L1 fusion
- HMGA2/WIF1 fusion
- LAMB4
- SLC4A8
- BTBD2
- TMEM14B
- ERBB2
- C4orf22
- AURA2
- CASP7
- NF2
- RUFY1
- FAM175A
- FP1523
- AGBL3
- c-myb
- MYB
- BECN1
- ZNF100
- NFS1
- HKR1
- ZNF564
- SPATS2L
- LINC00596
- GVQW1
- OCEL1
- PKN1
- LEPROTL1
- TSEN2
- DNAPTP3
- CCDC132
- ZNF385A
- SHANK2
- ZNF195
- GLT8D2
- EDRF1
- ZNF20
- LYRM4
- EIF2B3
- C16orf89
- UTY
- ENSA
- SH3PXD2A
- RBP7
Pseudogenes.org Pseudogenes for HMGA2 Gene
Variants for HMGA2 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for HMGA2 Gene
- HMGA2_HUMAN-P52926
- Genetic variations in HMGA2 define the stature quantitative trait locus 9 (STQTL9) [MIM:611547]. Human height is a classic, highly heritable quantitative trait.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMGA2 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 708544 | Likely Benign: not provided | 65,963,262(+) | A/T | SYNONYMOUS_VARIANT | |
| 720005 | Likely Benign: not provided | 65,838,551(+) | A/G | SYNONYMOUS_VARIANT | |
| 726798 | Likely Benign: not provided | 65,963,277(+) | T/C | SYNONYMOUS_VARIANT | |
| 750623 | Likely Benign: not provided | 65,951,424(+) | T/C | INTRON_VARIANT | |
| 768565 | Benign: not provided | 65,838,511(+) | A/G | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3629792 | CNV | loss | 21293372 |
| esv3629793 | CNV | loss | 21293372 |
| esv8071 | CNV | gain | 19470904 |
| nsv507649 | OTHER | sequence alteration | 20534489 |
Residual Variation Intolerance Score:
57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.28;
25.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HMGA2 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for HMGA2 Gene
(56) MalaCards diseases for HMGA2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| silver-russell syndrome 5 |
|
|
| salivary gland adenoma, pleomorphic |
|
|
| silver-russell syndrome 1 |
|
|
| stature quantitative trait locus 9 |
|
|
| leiomyoma |
|
Search HMGA2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HMGA2_HUMAN- 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}.
- 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}.
- 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}.
- 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}.
Additional Disease Information for HMGA2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for HMGA2 Gene
Publications for HMGA2 Gene
- Genomic characterization of human HMGIC, a member of the accessory transcription factor family found at translocation breakpoints in lipomas. (PMID: 8824803) Ashar HR … Chada K (Genomics 1996) 2 3 4 23
- HMGA2 is confirmed to be associated with human adult height. (PMID: 19930247) Yang TL … Deng HW (Annals of human genetics 2010) 3 23 41
- Association of a high mobility group gene (HMGA2) variant with bone mineral density. (PMID: 19376282) Kuipers A … Zmuda JM (Bone 2009) 3 23 41
- Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele. (PMID: 19132395) Hodge JC … Morton CC (Human genetics 2009) 3 23 41
- A common variant of HMGA2 is associated with adult and childhood height in the general population. (PMID: 17767157) Weedon MN … Frayling TM (Nature genetics 2007) 3 4 41
ExternalLinks
Products for HMGA2 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for HMGA2
- Origene Custom Protein Services for HMGA2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HMGA2
- Browse OriGene Inhibitory RNA Products For HMGA2
- OriGene qPCR primer pairs for HMGA2
- OriGene qPCR primer pairs and template standards for HMGA2
- OriGene CRISPR knockouts for HMGA2
- MG221841
- MR221841
- MR221841L3
- MR221841L4
- RC214629
- RC214629L1
- RC214629L2
- RC214629L3
- RC214629L4
- RC214681
- RC214681L3
- RC214681L4
- RC235760
- RC236056
- RG214629
- RG214681
- RR212261
- RR212261L3
- RR212261L4
- MR221841L3V
- MR221841L4V
- RC214629L1V
- RC214629L2V
- RC214629L3V
- RC214629L4V
- RC214681L3V
- RC214681L4V
- RR212261L3V
- RR212261L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HMGA2
- Sino Biological Human cDNA Clone for HMGA2
- Browse Sino Biological Recombinant Proteins
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- Sino Biological Antibodies for HMGA2
- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for HMGA2
- Browse Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for HMGA2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HMGA2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HMGA2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HMGA2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HMGA2
- Addgene plasmids for HMGA2
- antibodies-online: Search results for available HMGA2 related products ranked by validation data
- antibodies-online: Search results for available HMGA2 related products ranked by validation data
- antibodies-online: Search results for available HMGA2 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for HMGA2
- Search Santa Cruz Biotechnology (SCBT) for HMGA2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HMGA2
- Horizon Cell Lines for HMGA2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HMGA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HMGA2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for HMGA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGA2
- Boster Bio Antibodies for HMGA2
- Browse Boster Bio ELISA Kits
Sources for HMGA2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB