Gene Symbol | HMGA2 |
Entrez ID | 8091 |
Uniprot ID | P52926 |
Description | high mobility group AT-hook 2 |
Chromosomal Location | chr12: 65,824,131-65,966,295 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000122 |
negative regulation of transcription from RNA polymerase II promoter |
Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
IDA |
BP |
GO:0001837 |
epithelial to mesenchymal transition |
A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
IMP |
BP |
GO:0002062 |
chondrocyte differentiation |
The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage. |
IDA |
BP |
GO:0003131 |
mesodermal-endodermal cell signaling |
Any process that mediates the transfer of information from mesodermal cells to endodermal cells. |
IMP |
BP |
GO:0006284 |
base-excision repair |
In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
IDA |
BP |
GO:0006325 |
chromatin organization |
Any process that results in the specification, formation or maintenance of the physical structure of eukaryotic chromatin. |
TAS |
BP |
GO:0006355 |
regulation of transcription, DNA-templated |
Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
IMP |
BP |
GO:0006366 |
transcription from RNA polymerase II promoter |
The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
IEA |
BP |
GO:0007067 |
mitotic nuclear division |
A cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. |
IEA |
BP |
GO:0007095 |
mitotic G2 DNA damage checkpoint |
A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage. |
IDA |
BP |
GO:0007275 |
multicellular organism development |
The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). |
TAS |
BP |
GO:0009615 |
response to virus |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
IEP |
BP |
GO:0010564 |
regulation of cell cycle process |
Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. |
IDA |
BP |
GO:0010628 |
positive regulation of gene expression |
Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. |
IDA |
BP |
GO:0030261 |
chromosome condensation |
The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. |
IEA |
BP |
GO:0031052 |
chromosome breakage |
Regulated cleavage of the developing macronuclear genome at a limited number of chromosome breakage sites (CBS). The macronuclear destined segment (MDS) sequence adjacent to the CBS (or separated from it by a BES) receives a macronuclear telomere following chromosome breakage. |
IDA |
BP |
GO:0031507 |
heterochromatin assembly |
The assembly of chromatin into heterochromatin, a compact and highly condensed form that is often, but not always, transcriptionally silent. |
IDA |
BP |
GO:0035978 |
histone H2A-S139 phosphorylation |
The modification of histone H2A by the addition of an phosphate group to a serine residue at position 139 of the histone. |
IDA |
BP |
GO:0035986 |
senescence-associated heterochromatin focus assembly |
The assembly of chromatin into senescence-associated heterochromatin foci (SAHF), transcriptionally-silent heterochromatin structures present in senescent cells, containing the condensed chromatin of one chromosome, and enriched for histone modifications. Formation of these chromatin structures is thought to repress expression of proliferation-promoting genes. |
IDA |
BP |
GO:0035987 |
endodermal cell differentiation |
The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. |
IMP |
BP |
GO:0035988 |
chondrocyte proliferation |
The multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage. |
IDA |
BP |
GO:0040008 |
regulation of growth |
Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development. |
IEA |
BP |
GO:0042769 |
DNA damage response, detection of DNA damage |
The series of events required to receive a stimulus indicating DNA damage has occurred and convert it to a molecular signal. |
IDA |
BP |
GO:0043065 |
positive regulation of apoptotic process |
Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
IDA |
BP |
GO:0043066 |
negative regulation of apoptotic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
IDA |
BP |
GO:0043392 |
negative regulation of DNA binding |
Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). |
IDA |
BP |
GO:0043922 |
negative regulation by host of viral transcription |
Any process in which a host organism stops, prevents, or reduces the frequency, rate or extent of viral transcription. |
IDA |
BP |
GO:0045444 |
fat cell differentiation |
The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. |
IMP |
BP |
GO:0045869 |
negative regulation of single stranded viral RNA replication via double stranded DNA intermediate |
Any process that stops, prevents, or reduces the frequency, rate or extent of single stranded viral RNA replication via double stranded DNA intermediate. |
IDA |
BP |
GO:0045892 |
negative regulation of transcription, DNA-templated |
Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
IDA|IMP |
BP |
GO:0045893 |
positive regulation of transcription, DNA-templated |
Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
IDA|IMP |
BP |
GO:0045944 |
positive regulation of transcription from RNA polymerase II promoter |
Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
IDA |
BP |
GO:0048333 |
mesodermal cell differentiation |
The process in which a relatively unspecialized cell acquires the specialized features of a mesoderm cell. |
IMP |
BP |
GO:0048762 |
mesenchymal cell differentiation |
The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. |
IMP |
BP |
GO:0048863 |
stem cell differentiation |
The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
IEP |
BP |
GO:0051301 |
cell division |
The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
IEA |
BP |
GO:0071158 |
positive regulation of cell cycle arrest |
Any process that increases the rate, frequency, or extent of cell cycle arrest, the process in which the cell cycle is halted during one of the normal phases. |
IDA |
BP |
GO:0090402 |
oncogene-induced cell senescence |
A cellular senescence process associated with the dismantling of a cell as a response to oncogenic stress, such as the activation of the Ras oncogenic family. |
IDA |
BP |
GO:2000036 |
regulation of stem cell population maintenance |
Any process that modulates the frequency, rate or extent of stem cell population maintenance. |
IMP|TAS |
BP |
GO:2000648 |
positive regulation of stem cell proliferation |
Any process that activates or increases the frequency, rate or extent of stem cell proliferation. |
IDA|IMP |
BP |
GO:2000679 |
positive regulation of transcription regulatory region DNA binding |
Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding. |
IDA |
BP |
GO:2000685 |
positive regulation of cellular response to X-ray |
Any process that activates or increases the frequency, rate or extent of cellular response to X-ray. |
IDA |
BP |
GO:2000774 |
positive regulation of cellular senescence |
Any process that activates or increases the frequency, rate or extent of cellular senescence. |
IMP |
BP |
GO:2001022 |
positive regulation of response to DNA damage stimulus |
Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. |
IDA |
BP |
GO:2001033 |
negative regulation of double-strand break repair via nonhomologous end joining |
Any process that stops, prevents or reduces the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
IDA |
BP |
GO:2001038 |
regulation of cellular response to drug |
Any process that modulates the frequency, rate or extent of cellular response to drug. |
IDA |
CC |
GO:0000228 |
nuclear chromosome |
A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. |
ISS |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA|TAS |
CC |
GO:0032993 |
protein-DNA complex |
A macromolecular complex containing both protein and DNA molecules. |
IDA |
CC |
GO:0035985 |
senescence-associated heterochromatin focus |
A transcriptionally-silent heterochromatin structure present in senescent cells. Contains the condensed chromatin of one chromosome and is enriched for histone modifications. Thought to repress expression of proliferation-promoting genes. |
IDA |
CC |
GO:0071141 |
SMAD protein complex |
A protein complex that consists of SMAD proteins; may be homomeric or heteromeric. |
IDA |
MF |
GO:0000975 |
regulatory region DNA binding |
Interacting selectively and non-covalently with a DNA region that regulates a DNA-based process. Such processes include transcription, DNA replication, and DNA repair. |
IDA |
MF |
GO:0000989 |
transcription factor activity, transcription factor binding |
Interacting selectively and non-covalently with a specific transcription factor, which may be a single protein or a complex, in order to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well. |
IDA |
MF |
GO:0001047 |
core promoter binding |
Interacting selectively and non-covalently with the regulatory region composed of the transcription start site and binding sites for the basal transcription machinery. Binding may occur as a sequence specific interaction or as an interaction observed only once a factor has been recruited to the DNA by other factors. |
IDA |
MF |
GO:0001077 |
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding |
Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II (RNAP II) in order to activate or increase the frequency, rate or extent of transcription from the RNAP II promoter. |
IDA |
MF |
GO:0001078 |
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding |
Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II (RNAP II) in order to stop, prevent, or reduce the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
IDA |
MF |
GO:0003677 |
DNA binding |
Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
NAS |
MF |
GO:0003680 |
AT DNA binding |
Interacting selectively and non-covalently with oligo(A) and oligo(T) tracts of DNA (AT DNA). |
IDA|IMP |
MF |
GO:0003906 |
DNA-(apurinic or apyrimidinic site) lyase activity |
Catalysis of the cleavage of the C-O-P bond 3' to the apurinic or apyrimidinic site in DNA by a beta-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate. |
IDA |
MF |
GO:0004677 |
DNA-dependent protein kinase activity |
Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires the presence of DNA. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0008134 |
transcription factor binding |
Interacting selectively and non-covalently with a transcription factor, any protein required to initiate or regulate transcription. |
IPI |
MF |
GO:0008301 |
DNA binding, bending |
The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. |
IDA|IMP |
MF |
GO:0031492 |
nucleosomal DNA binding |
Interacting selectively and non-covalently with the DNA portion of a nucleosome. |
IDA |
MF |
GO:0035497 |
cAMP response element binding |
Interacting selectively and non-covalently with the cyclic AMP response element (CRE), a short palindrome-containing sequence found in the promoters of genes whose expression is regulated in response to cyclic AMP. |
IDA |
MF |
GO:0035500 |
MH2 domain binding |
Interacting selectively and non-covalently with the MH2 (MAD homology 2) domain of a protein. The MH2 domain is found at the carboxy terminus of MAD related proteins such as Smads. The MH2 domain mediates interaction with a wide variety of proteins and provides specificity and selectivity to Smad function and also is critical for mediating interactions in Smad oligomers. |
IDA |
MF |
GO:0035501 |
MH1 domain binding |
Interacting selectively and non-covalently with the MH1 (MAD homology 1) domain of a protein. The MH1 domain is found at the amino terminus of MAD related proteins such as Smads and can mediate DNA binding in some proteins. Smads also use the MH1 domain to interact with some transcription factors. |
IDA |
MF |
GO:0046332 |
SMAD binding |
Interacting selectively and non-covalently with a SMAD signaling protein. |
IPI |
MF |
GO:0051575 |
5'-deoxyribose-5-phosphate lyase activity |
Catalysis of the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site in DNA where a DNA-(apurinic or apyrimidinic site) lyase has already cleaved the C-O-P bond 3' to the apurinic or apyrimidinic site. |
IDA |
MF |
GO:0070742 |
C2H2 zinc finger domain binding |
Interacting selectively and non-covalently with a C2H2-type zinc finger domain of a protein. The C2H2 zinc finger is the classical zinc finger domain, in which two conserved cysteines and histidines co-ordinate a zinc ion. |
IMP |
Domain ID | Description |
---|---|
IPR000116 |
High mobility group protein HMGA |
IPR000637 |
HMG-I/HMG-Y, DNA-binding, conserved site |
IPR017956 |
AT hook, DNA-binding motif |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa05202 |
Transcriptional misregulation in cancer |
KEGG |
hsa05206 |
MicroRNAs in cancer |
KEGG |
WP2857 |
Mesodermal Commitment Pathway |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0005612 |
Birth Weight |
C0011860 |
Diabetes Mellitus, Non-Insulin-Dependent |
C0205824 |
Liposarcoma, Dedifferentiated |
C3489413 |
Lipomatosis, Multiple |
Database Name |
---|
GWASdb |
GWAScatalog |
DisGeNET |
Pubmed ID | Author | Year | Title |
---|---|---|---|
19141577 |
Kim et al. |
2009 |
Transcriptional Profiling with a Pathway-Oriented Analysis Identifies Dysregulated Molecular Phenotypes in the Endometrium of Patients with Polycystic Ovary Syndrome |
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
CSNK2A1 |
1457 |
P68400 |
0.52 |
CSNK2A2 |
1459 |
P19784 |
0.52 |
SMAD3 |
4088 |
P84022 |
0.52 |
APEX1 |
328 |
P27695 |
0.56 |
PCBP2 |
5094 |
Q15366 |
0.56 |
PTBP1 |
5725 |
P26599 |
0.56 |
ATM |
472 |
Q13315 |
0.63 |
H2AFX |
3014 |
P16104 |
0.63 |
SMAD1 |
4086 |
Q15797 |
0.63 |
SMAD5 |
4090 |
Q99717 |
0.63 |
SMAD9 |
4093 |
O15198 |
0.63 |
XRCC6 |
2547 |
P12956 |
0.68 |
PA2G4 |
5036 |
Q9UQ80 |
0.68 |
SYNCRIP |
10492 |
O60506 |
0.68 |
PSIP1 |
11168 |
O75475 |
0.68 |
NPM1 |
4869 |
P06748 |
0.73 |
E4F1 |
1877 |
Q66K89 |
0.75 |
RELA |
5970 |
Q04206 |
0.75 |
NFKB1 |
4790 |
P19838 |
0.78 |
HIST1H3A |
8350 |
P68431 |
0.49 |
PRKCA |
5578 |
P17252 |
0.52 |
HDGF |
3068 |
P51858 |
0.63 |
OBSL1 |
23363 |
O75147 |
0.63 |
PRMT1 |
3276 |
Q99873 |
0.68 |
CREB1 |
1385 |
P16220 |
0.72 |
NFATC1 |
4772 |
O95644 |
0.72 |
PRMT6 |
55170 |
Q96LA8 |
0.75 |
PIAS3 |
10401 |
Q9Y6X2 |
0.77 |
RB1 |
5925 |
P06400 |
0.81 |