Protein Description

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

No databases found.

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