Protein Description

Gene Symbol MSH6
Entrez ID 2956
Uniprot ID P52701
Description mutS homolog 6
Chromosomal Location chr2: 47,695,530-47,810,101
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|ISS

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|IMP|TAS

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:0008340

determination of adult lifespan

The control of viability and duration in the adult phase of the life-cycle.

ISS

BP

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

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 detection of DNA damage, and ends when the execution phase of apoptosis is triggered.

ISS

BP

GO:0009411

response to UV

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 an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.

IBA|ISS

BP

GO:0016032

viral process

A multi-organism process in which a virus is a participant. The other participant is the host. Includes infection of a host cell, replication of the viral genome, and assembly of progeny virus particles. In some cases the viral genetic material may integrate into the host genome and only subsequently, under particular circumstances, 'complete' its life cycle.

IEA

BP

GO:0016446

somatic hypermutation of immunoglobulin genes

Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins.

ISS

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: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.

ISS

BP

GO:0045830

positive regulation of isotype switching

Any process that activates or increases the frequency, rate or extent of isotype switching.

IEA

BP

GO:0045910

negative regulation of DNA recombination

Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination.

IDA

BP

GO:0051096

positive regulation of helicase activity

Any process that activates or increases the activity of a helicase.

IDA

BP

GO:0097193

intrinsic apoptotic signaling pathway

A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).

ISS

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.

IBA

CC

GO:0000790

nuclear chromatin

The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome in the nucleus.

IEA

CC

GO:0005654

nucleoplasm

That part of the nuclear content other than the chromosomes or the nucleolus.

IDA|TAS

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

IDA

CC

GO:0005794

Golgi apparatus

A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions.

IDA

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

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:0043231

intracellular membrane-bounded organelle

Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

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:0003682

chromatin binding

Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.

IEA

MF

GO:0003690

double-stranded DNA binding

Interacting selectively and non-covalently with double-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: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: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

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: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:0035064

methylated histone binding

Interacting selectively and non-covalently with a histone protein in which a residue has been modified by methylation. Histones are any of a group of water-soluble proteins found in association with the DNA of plant and animal chromosomes.

IDA

MF

GO:0043531

ADP binding

Interacting selectively and non-covalently with ADP, adenosine 5'-diphosphate.

IDA

Domain ID Description

IPR000313

PWWP domain

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

IPR015536

DNA mismatch repair protein MutS-homologue MSH6

IPR016151

DNA mismatch repair protein MutS, N-terminal

IPR027417

P-loop containing nucleoside triphosphate hydrolase

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

WP1971

Integrated Cancer Pathway

WikiPathways

WP2261

Signaling Pathways in Glioblastoma

WikiPathways

WP531

Mismatch repair

WikiPathways

WP2446

Retinoblastoma (RB) in Cancer

WikiPathways

UMLS CUI UMLS Term

C0009405

Hereditary Nonpolyposis Colorectal Neoplasms

C0014170

Endometrial Neoplasms

C0017661

Iga Glomerulonephritis

C0027672

Neoplastic Syndromes, Hereditary

C0031117

Peripheral Neuropathy

C0476089

Endometrial Carcinoma

C0920269

Microsatellite Instability

C1321489

Torre-Muir Syndrome

C1333990

Hereditary Nonpolyposis Colorectal Cancer

Tissue Cell Type

adrenal gland

glandular cells

lymph node

germinal center cells

placenta

trophoblastic cells

testis

cells in seminiferous ducts

tonsil

germinal center 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

FEN1

2237

P39748

0.49

HDGF

3068

P51858

0.49

MAP2K1

5604

Q02750

0.49

RAD21

5885

O60216

0.49

SUPT16H

11198

Q9Y5B9

0.49

ANKRD17

26057

O75179

0.49

ATM

472

Q13315

0.55

RFC1

5981

P35251

0.55

CHEK1

1111

O14757

0.63

H3F3A; H3F3B

3020

P84243

0.63

PMS1

5378

P54277

0.63

PRKDC

5591

P78527

0.63

RPL31

6160

P62899

0.63

SUPT5H

6829

O00267

0.63

XRCC5

7520

P13010

0.63

PARP2

10038

Q9UGN5

0.63

TOPBP1

11073

Q92547

0.63

SAMHD1

25939

Q9Y3Z3

0.63

CLSPN

63967

Q9HAW4

0.63

ATR

545

Q13535

0.70

CSNK2A1

1457

P68400

0.70

MUTYH

4595

Q9UIF7

0.71

BRINP1

1620

O60477

0.72

DECR1

1666

Q16698

0.72

STX3

6809

Q13277

0.72

AKR7A2

8574

O43488

0.72

RUSC2

9853

Q8N2Y8

0.72

KIAA1191

57179

Q96A73

0.72

CHD8

57680

Q9HCK8

0.72

SMC1A

8243

Q14683

0.75

CHAF1A

10036

Q13111

0.75

BLM

641

P54132

0.77

MLH1

4292

P40692

0.87

PCNA

5111

P12004

0.97

MSH2

4436

P43246

0.99

E2F3

1871

O00716

0.07

HRAS

3265

P01112

0.49

PRDX1

5052

Q06830

0.49

POLE

5426

Q07864

0.49

PRDX2

7001

P32119

0.49

SMC3

9126

Q9UQE7

0.49

NANS

54187

Q9NR45

0.49

CEP19

84984

Q96LK0

0.49

MRE11A

4361

P49959

0.55

NBN

4683

O60934

0.55

RAD50

10111

Q92878

0.55

MSH3

4437

P20585

0.56

SUMO1

7341

P63165

0.56

AIRE

326

O43918

0.63

CDC5L

988

Q99459

0.63

ESR1

2099

P03372

0.63

IFI16

3428

Q16666

0.63

MCC

4163

P23508

0.63

NEDD8

4738

Q15843

0.63

NTRK1

4914

P04629

0.63

PRKCZ

5590

Q05513

0.63

PSMD4

5710

P55036

0.63

RAD51

5888

Q06609

0.63

RPS6KB2

6199

Q9UBS0

0.63

STK4

6789

Q13043

0.63

TP53

7157

P04637

0.63

YY1

7528

P25490

0.63

CUL3

8452

Q13618

0.63

AIM2

9447

O14862

0.63

KIAA0101

9768

Q15004

0.63

PTBP3

9991

O95758

0.63

HYOU1

10525

Q9Y4L1

0.63

UBD

10537

O15205

0.63

MORF4L1

10933

Q9UBU8

0.63

GABARAP

11337

O95166

0.63

SNW1

22938

Q13573

0.63

GANAB

23193

Q14697

0.63

KANK2

25959

Q63ZY3

0.63

FBXO25

26260

Q8TCJ0

0.63

POLK

51426

Q9UBT6

0.63

DTL

51514

Q9NZJ0

0.63

SIRT7

51547

Q9NRC8

0.63

SIRT6

51548

Q8N6T7

0.63

MED9

55090

Q9NWA0

0.63

SMARCAD1

56916

Q9H4L7

0.63

SLX4

84464

Q8IY92

0.63

MAP1LC3A

84557

Q9H492

0.63

UNK

85451

Q9C0B0

0.63

CREBBP

1387

Q92793

0.67

EP300

2033

Q09472

0.67

ATP6V1B2

526

P21281

0.70

HUS1

3364

O60921

0.72

RAD1

5810

O60671

0.72

RAD9A

5883

Q99638

0.72

HDAC11

79885

Q96DB2

0.72

SUMO2

6613

P61956

0.74

CASP4

837

P49662

0.76

XRCC6

2547

P12956

0.82

BARD1

580

Q99728

0.84

MYC

4609

P01106

0.88

PMS2

5395

P54278

0.89

BRCA1

672

P38398

0.90