Gene Symbol | MSH2 |
Entrez ID | 4436 |
Uniprot ID | P43246 |
Description | mutS homolog 2 |
Chromosomal Location | chr2: 47,402,969-47,562,311 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000710 |
meiotic mismatch repair |
A system for the identification and correction of base-base mismatches, small insertion-deletion loops, and regions of heterology that are present in duplex DNA formed with strands from two recombining molecules. Correction of the mismatch can result in non-Mendelian segregation of alleles following meiosis. |
IBA |
BP |
GO:0001701 |
in utero embryonic development |
The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
IEA |
BP |
GO:0006119 |
oxidative phosphorylation |
The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. |
IEA |
BP |
GO:0006281 |
DNA repair |
The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
IDA |
BP |
GO:0006298 |
mismatch repair |
A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
IDA|IGI|TAS |
BP |
GO:0006301 |
postreplication repair |
The conversion of DNA-damage induced single-stranded gaps into large molecular weight DNA after replication. Includes pathways that remove replication-blocking lesions in conjunction with DNA replication. |
IDA |
BP |
GO:0006302 |
double-strand break repair |
The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
IBA |
BP |
GO:0006311 |
meiotic gene conversion |
The cell cycle process in which genetic information is transferred from one helix to another. It often occurs in association with general genetic recombination events, and is believed to be a straightforward consequence of the mechanisms of general recombination and DNA repair. For example, meiosis might yield three copies of the maternal version of an allele and only one copy of the paternal allele, indicating that one of the two copies of the paternal allele has been changed to a copy of the maternal allele. |
IBA |
BP |
GO:0007050 |
cell cycle arrest |
A regulatory process that halts progression through the cell cycle during one of the normal phases (G1, S, G2, M). |
IEA |
BP |
GO:0007131 |
reciprocal meiotic recombination |
The cell cycle process in which double strand breaks are formed and repaired through a double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity. |
IBA |
BP |
GO:0007281 |
germ cell development |
The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. |
IEA |
BP |
GO:0008340 |
determination of adult lifespan |
The control of viability and duration in the adult phase of the life-cycle. |
IEA |
BP |
GO:0008584 |
male gonad development |
The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
ISS |
BP |
GO:0010165 |
response to X-ray |
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 X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz). |
IBA|ISS |
BP |
GO:0010224 |
response to UV-B |
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 UV-B radiation stimulus. UV-B radiation (UV-B light) spans the wavelengths 280 to 315 nm. |
IBA|ISS |
BP |
GO:0016446 |
somatic hypermutation of immunoglobulin genes |
Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins. |
IBA |
BP |
GO:0016447 |
somatic recombination of immunoglobulin gene segments |
The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. |
ISS |
BP |
GO:0019724 |
B cell mediated immunity |
Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. |
ISS |
BP |
GO:0030183 |
B cell differentiation |
The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
ISS |
BP |
GO:0031573 |
intra-S DNA damage checkpoint |
A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression. |
IBA |
BP |
GO:0042771 |
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
IBA |
BP |
GO:0043524 |
negative regulation of neuron apoptotic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
ISS |
BP |
GO:0043570 |
maintenance of DNA repeat elements |
Any process involved in sustaining the fidelity and copy number of DNA repeat elements. |
IMP |
BP |
GO:0045128 |
negative regulation of reciprocal meiotic recombination |
Any process that decreases the frequency, rate or extent of recombination during meiosis. Reciprocal meiotic recombination is the cell cycle process in which double strand breaks are formed and repaired through a double Holliday junction intermediate. |
IBA |
BP |
GO:0045190 |
isotype switching |
The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. |
IBA|ISS |
BP |
GO:0045910 |
negative regulation of DNA recombination |
Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. |
IDA|ISS |
BP |
GO:0051096 |
positive regulation of helicase activity |
Any process that activates or increases the activity of a helicase. |
IDA |
CC |
GO:0000784 |
nuclear chromosome, telomeric region |
The terminal region of a linear nuclear chromosome that includes the telomeric DNA repeats and associated proteins. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
TAS |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0032301 |
MutSalpha complex |
A heterodimer involved in the recognition and repair of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MSH2 and MSH6. |
IDA |
CC |
GO:0032302 |
MutSbeta complex |
A heterodimer involved in binding to and correcting insertion/deletion mutations. In human the complex consists of two subunits, MSH2 and MSH3. |
IDA |
MF |
GO:0000287 |
magnesium ion binding |
Interacting selectively and non-covalently with magnesium (Mg) ions. |
IDA |
MF |
GO:0000400 |
four-way junction DNA binding |
Interacting selectively and non-covalently with DNA containing four-way junctions, also known as Holliday junctions, a structure where two DNA double strands are held together by reciprocal exchange of two of the four strands, one strand each from the two original helices. |
IDA |
MF |
GO:0000403 |
Y-form DNA binding |
Interacting selectively and non-covalently with segment of DNA shaped like a Y. This shape occurs when DNA contains a region of paired double-stranded DNA on one end and a region of unpaired DNA strands on the opposite end. |
IBA |
MF |
GO:0000404 |
heteroduplex DNA loop binding |
Interacting selectively and non-covalently with DNA containing a loop. A loop occurs when DNA contains a large insertion or deletion that causes a region of unpaired single-stranded DNA to loop out, while the rest of the DNA is in a paired double-stranded configuration. |
IBA |
MF |
GO:0000406 |
double-strand/single-strand DNA junction binding |
Interacting selectively and non-covalently with a region of DNA that contains double-stranded DNA flanked by a region of single-stranded DNA. |
IBA |
MF |
GO:0003677 |
DNA binding |
Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
IDA |
MF |
GO:0003690 |
double-stranded DNA binding |
Interacting selectively and non-covalently with double-stranded DNA. |
IDA |
MF |
GO:0003697 |
single-stranded DNA binding |
Interacting selectively and non-covalently with single-stranded 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:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IDA |
MF |
GO:0008022 |
protein C-terminus binding |
Interacting selectively and non-covalently with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
IPI |
MF |
GO:0016887 |
ATPase activity |
Catalysis of the reaction: ATP + H2O = ADP + phosphate + 2 H+. May or may not be coupled to another reaction. |
IDA |
MF |
GO:0019237 |
centromeric DNA binding |
Interacting selectively and non-covalently with a centromere, a region of chromosome where the spindle fibers attach during mitosis and meiosis. |
IEA |
MF |
GO:0019899 |
enzyme binding |
Interacting selectively and non-covalently with any enzyme. |
IPI |
MF |
GO:0019901 |
protein kinase binding |
Interacting selectively and non-covalently with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
IPI |
MF |
GO:0030983 |
mismatched DNA binding |
Interacting selectively and non-covalently with double-stranded DNA containing one or more mismatches. |
IDA |
MF |
GO:0032137 |
guanine/thymine mispair binding |
Interacting selectively and non-covalently with double-stranded DNA containing a G/T mispair. |
IDA|IMP |
MF |
GO:0032139 |
dinucleotide insertion or deletion binding |
Interacting selectively and non-covalently with double-stranded DNA containing a dinucleotide insertion or deletion. |
IDA |
MF |
GO:0032142 |
single guanine insertion binding |
Interacting selectively and non-covalently with double-stranded DNA containing a single guanine insertion or a deletion that results in an unpaired guanine. |
IDA |
MF |
GO:0032143 |
single thymine insertion binding |
Interacting selectively and non-covalently with double-stranded DNA containing a single thymine insertion or a deletion that results in an unpaired thymine. |
IDA |
MF |
GO:0032181 |
dinucleotide repeat insertion binding |
Interacting selectively and non-covalently with double-stranded DNA containing a dinucleotide repeat insertion or a deletion resulting in unpaired dinucleotide repeats. |
IDA |
MF |
GO:0032357 |
oxidized purine DNA binding |
Interacting selectively and non-covalently with oxidized purine residues in DNA. |
IDA |
MF |
GO:0032405 |
MutLalpha complex binding |
Interacting selectively and non-covalently with the mismatch repair complex MutLalpha. |
IDA |
MF |
GO:0042803 |
protein homodimerization activity |
Interacting selectively and non-covalently with an identical protein to form a homodimer. |
IDA |
MF |
GO:0043531 |
ADP binding |
Interacting selectively and non-covalently with ADP, adenosine 5'-diphosphate. |
IDA |
Domain ID | Description |
---|---|
IPR000432 |
DNA mismatch repair protein MutS, C-terminal |
IPR007695 |
DNA mismatch repair protein MutS-like, N-terminal |
IPR007696 |
DNA mismatch repair protein MutS, core |
IPR007860 |
DNA mismatch repair protein MutS, connector domain |
IPR007861 |
DNA mismatch repair protein MutS, clamp |
IPR011184 |
DNA mismatch repair MutS |
IPR016151 |
DNA mismatch repair protein MutS, N-terminal |
IPR027417 |
P-loop containing nucleoside triphosphate hydrolase |
IPR032642 |
DNA mismatch repair protein Msh2 |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa01524 |
Platinum drug resistance |
KEGG |
hsa03430 |
Mismatch repair |
KEGG |
hsa05200 |
Pathways in cancer |
KEGG |
hsa05210 |
Colorectal cancer |
KEGG |
WP1984 |
Integrated Breast Cancer Pathway |
WikiPathways |
WP3303 |
Rac1/Pak1/p38/MMP-2 pathway |
WikiPathways |
WP1971 |
Integrated Cancer Pathway |
WikiPathways |
WP531 |
Mismatch repair |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0009404 |
Colorectal Neoplasms |
C0009405 |
Hereditary Nonpolyposis Colorectal Neoplasms |
C0017638 |
Glioma |
C0027672 |
Neoplastic Syndromes, Hereditary |
C0027831 |
Neurofibromatosis 1 |
C0919267 |
Ovarian Neoplasm |
C1321489 |
Torre-Muir Syndrome |
C1333990 |
Hereditary Nonpolyposis Colorectal Cancer |
Tissue | Cell Type |
---|---|
cerebral cortex |
glial cells |
nasopharynx |
respiratory epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
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 |
---|---|---|---|
ANXA6 |
309 |
P08133 |
0.49 |
DVL1 |
1855 |
O14640 |
0.49 |
FEN1 |
2237 |
P39748 |
0.49 |
IK |
3550 |
Q13123 |
0.49 |
RAD21 |
5885 |
O60216 |
0.49 |
RPS24 |
6229 |
P62847 |
0.49 |
SRSF5 |
6430 |
Q13243 |
0.49 |
SRSF7 |
6432 |
Q16629 |
0.49 |
TOP2B |
7155 |
Q02880 |
0.49 |
TPP2 |
7174 |
P29144 |
0.49 |
TPT1 |
7178 |
P13693 |
0.49 |
SMARCA5 |
8467 |
O60264 |
0.49 |
CDC14B |
8555 |
O60729 |
0.49 |
EIF3B |
8662 |
P55884 |
0.49 |
FBP2 |
8789 |
O00757 |
0.49 |
SART1 |
9092 |
O43290 |
0.49 |
SRSF11 |
9295 |
Q05519 |
0.49 |
SRSF10 |
10772 |
O75494 |
0.49 |
SEPT9 |
10801 |
Q9UHD8 |
0.49 |
SUPT16H |
11198 |
Q9Y5B9 |
0.49 |
DNAJC9 |
23234 |
Q8WXX5 |
0.49 |
TDRD7 |
23424 |
Q8NHU6 |
0.49 |
NMD3 |
51068 |
Q96D46 |
0.49 |
STX17 |
55014 |
P56962 |
0.49 |
RBM25 |
58517 |
P49756 |
0.49 |
SNX27 |
81609 |
Q96L92 |
0.49 |
TIPRL |
261726 |
O75663 |
0.49 |
ATM |
472 |
Q13315 |
0.55 |
RFC1 |
5981 |
P35251 |
0.55 |
XPA |
7507 |
P23025 |
0.56 |
RPA4 |
29935 |
Q13156 |
0.56 |
DPYSL3 |
1809 |
Q14195 |
0.63 |
JUP |
3728 |
P14923 |
0.63 |
NRDC |
4898 |
O43847 |
0.63 |
PDE3A |
5139 |
Q14432 |
0.63 |
ST13 |
6767 |
P50502 |
0.63 |
STAT3 |
6774 |
P40763 |
0.63 |
SUPT5H |
6829 |
O00267 |
0.63 |
CUL2 |
8453 |
Q13617 |
0.63 |
SEC23A |
10484 |
Q15436 |
0.63 |
REV1 |
51455 |
Q9UBZ9 |
0.63 |
CREBBP |
1387 |
Q92793 |
0.67 |
ATP6V1B2 |
526 |
P21281 |
0.70 |
CHEK1 |
1111 |
O14757 |
0.72 |
TP53 |
7157 |
P04637 |
0.73 |
BLM |
641 |
P54132 |
0.77 |
MLH1 |
4292 |
P40692 |
0.89 |
MSH2 |
4436 |
P43246 |
0.91 |
AARS |
16 |
P49588 |
0.49 |
AKT1 |
207 |
P31749 |
0.49 |
DHX15 |
1665 |
O43143 |
0.49 |
FBP1 |
2203 |
P09467 |
0.49 |
HNRNPD |
3184 |
Q14103 |
0.49 |
HRAS |
3265 |
P01112 |
0.49 |
SMAD1 |
4086 |
Q15797 |
0.49 |
PFDN4 |
5203 |
Q9NQP4 |
0.49 |
PPP3R2 |
5535 |
Q96LZ3 |
0.49 |
RPLP0 |
6175 |
P05388 |
0.49 |
RPS5 |
6193 |
P46782 |
0.49 |
ZW10 |
9183 |
O43264 |
0.49 |
TRIP13 |
9319 |
Q15645 |
0.49 |
ZNF510 |
22869 |
Q9Y2H8 |
0.49 |
LEF1 |
51176 |
Q9UJU2 |
0.49 |
CIAPIN1 |
57019 |
Q6FI81 |
0.49 |
GALNT12 |
79695 |
Q8IXK2 |
0.49 |
CEP19 |
84984 |
Q96LK0 |
0.49 |
CCDC180 |
100499483 |
Q9P1Z9 |
0.49 |
SMC1A |
8243 |
Q14683 |
0.52 |
MRE11A |
4361 |
P49959 |
0.55 |
NBN |
4683 |
O60934 |
0.55 |
RAD50 |
10111 |
Q92878 |
0.55 |
RECQL |
5965 |
P46063 |
0.56 |
E2F3 |
1871 |
O00716 |
0.59 |
TREX1 |
11277 |
Q9NSU2 |
0.62 |
ANXA7 |
310 |
P20073 |
0.63 |
AIRE |
326 |
O43918 |
0.63 |
ARF6 |
382 |
P62330 |
0.63 |
CDC5L |
988 |
Q99459 |
0.63 |
CDK2 |
1017 |
P24941 |
0.63 |
CDK9 |
1025 |
P50750 |
0.63 |
CDKN1A |
1026 |
P38936 |
0.63 |
ERCC1 |
2067 |
P07992 |
0.63 |
ERCC4 |
2072 |
Q92889 |
0.63 |
FANCA |
2175 |
O15360 |
0.63 |
FANCD2 |
2177 |
Q9BXW9 |
0.63 |
GRB7 |
2886 |
Q14451 |
0.63 |
HMGB1 |
3146 |
P09429 |
0.63 |
JUN |
3725 |
P05412 |
0.63 |
MCC |
4163 |
P23508 |
0.63 |
MGMT |
4255 |
P16455 |
0.63 |
NEDD8 |
4738 |
Q15843 |
0.63 |
NFKB1 |
4790 |
P19838 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
PMS1 |
5378 |
P54277 |
0.63 |
PRKCZ |
5590 |
Q05513 |
0.63 |
RAD51 |
5888 |
Q06609 |
0.63 |
RPA3 |
6119 |
P35244 |
0.63 |
STK4 |
6789 |
Q13043 |
0.63 |
TK1 |
7083 |
P04183 |
0.63 |
XRCC5 |
7520 |
P13010 |
0.63 |
UBD |
10537 |
O15205 |
0.63 |
RPP14 |
11102 |
O95059 |
0.63 |
NELFB |
25920 |
Q8WX92 |
0.63 |
WRAP73 |
49856 |
Q9P2S5 |
0.63 |
DTL |
51514 |
Q9NZJ0 |
0.63 |
SIRT7 |
51547 |
Q9NRC8 |
0.63 |
SIRT6 |
51548 |
Q8N6T7 |
0.63 |
SMARCAD1 |
56916 |
Q9H4L7 |
0.63 |
CCDC8 |
83987 |
Q9H0W5 |
0.63 |
LRRK2 |
120892 |
Q5S007 |
0.63 |
SMN1; SMN2 |
6606 |
Q16637 |
0.63 |
POLK |
51426 |
Q9UBT6 |
0.65 |
ESR2 |
2100 |
Q92731 |
0.68 |
MUTYH |
4595 |
Q9UIF7 |
0.68 |
RPA2 |
6118 |
P15927 |
0.70 |
HDAC6 |
10013 |
Q9UBN7 |
0.70 |
KAT2A |
2648 |
Q92830 |
0.72 |
HUS1 |
3364 |
O60921 |
0.72 |
RAD1 |
5810 |
O60671 |
0.72 |
RAD9A |
5883 |
Q99638 |
0.72 |
IKBKG |
8517 |
Q9Y6K9 |
0.72 |
ATRIP |
84126 |
Q8WXE1 |
0.72 |
XRCC6 |
2547 |
P12956 |
0.73 |
BARD1 |
580 |
Q99728 |
0.75 |
PTP4A3 |
11156 |
O75365 |
0.76 |
ESR1 |
2099 |
P03372 |
0.78 |
RPA1 |
6117 |
P27694 |
0.79 |
SUMO2 |
6613 |
P61956 |
0.79 |
SNW1 |
22938 |
Q13573 |
0.84 |
MYC |
4609 |
P01106 |
0.86 |
OTUB1 |
55611 |
Q96FW1 |
0.86 |
PMS2 |
5395 |
P54278 |
0.89 |
CHEK2 |
11200 |
O96017 |
0.89 |
SLX4 |
84464 |
Q8IY92 |
0.89 |
BRCA1 |
672 |
P38398 |
0.90 |
MAX |
4149 |
P61244 |
0.90 |
EXO1 |
9156 |
Q9UQ84 |
0.90 |
PCNA |
5111 |
P12004 |
0.94 |
ATR |
545 |
Q13535 |
0.95 |
MSH3 |
4437 |
P20585 |
0.96 |
MSH6 |
2956 |
P52701 |
0.99 |