Reactome | MSH2 R406* [nucleoplasm]

MSH2 R406* [nucleoplasm]

Stable Identifier

R-HSA-5575594

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

MSH2 ARG406TER, MSH2, DNA mismatch repair protein Msh2, MSH2_HUMAN

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Literature References

PubMed ID	Title	Journal	Year
8261515	Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer Leach, FS, Nicolaides, NC, Papadopoulos, N, Liu, B, Jen, J, Parsons, R, Peltomäki, P, Sistonen, P, Aaltonen, LA, Nyström-Lahti, M	Cell	1993

External Reference Information

External Reference

UniProt:P43246 MSH2

Gene Names

MSH2

Chain

initiator methionine:1, chain:2-934

Reference Genes

BioGPS Gene:4436 MSH2

COSMIC (genes):MSH2 MSH2

CTD Gene:4436 MSH2

dbSNP Gene:4436 MSH2

ENSEMBL:ENSG00000095002 MSH2

HGNC:7325 MSH2

KEGG:hsa:4436 MSH2

Monarch:4436 MSH2

NCBI Entrez Gene:4436 MSH2

OMIM:609309 MSH2

UCSC:P43246 MSH2

Reference Transcript

Other Identifiers

11719416_s_at

11744721_s_at

11749490_x_at

16879883

209421_PM_at

209421_at

2480993

2480994

2480995

2480996

2480997

2480998

2480999

2481000

2481002

2481003

2481007

2481010

2481011

2481016

2481017

2481018

2481020

2481022

2481023

2481025

2481029

2481030

2481031

2481032

2481039

2481042

2481065

2481089

2481091

2481093

2481123

2481124

2481135

2481136

2481137

4436

8041867

860_at

861_g_at

86665_at

A_14_P118153

A_14_P118983

A_23_P102471

A_33_P3287502

A_33_P3287507

GE528310

GE557698

GE58211

GE837848

GO:0000166

GO:0000287

GO:0000400

GO:0000781

GO:0001701

GO:0002204

GO:0002376

GO:0003677

GO:0003682

GO:0003684

GO:0003690

GO:0003697

GO:0003824

GO:0005515

GO:0005524

GO:0005634

GO:0005654

GO:0005694

GO:0006119

GO:0006281

GO:0006298

GO:0006301

GO:0006302

GO:0006310

GO:0006312

GO:0006974

GO:0007281

GO:0008047

GO:0008094

GO:0008340

GO:0008584

GO:0008630

GO:0010165

GO:0010224

GO:0016020

GO:0016446

GO:0016447

GO:0016787

GO:0016887

GO:0019237

GO:0019724

GO:0022414

GO:0030154

GO:0030183

GO:0030983

GO:0031573

GO:0032137

GO:0032139

GO:0032142

GO:0032143

GO:0032181

GO:0032301

GO:0032302

GO:0032357

GO:0032405

GO:0042771

GO:0042803

GO:0043524

GO:0043531

GO:0043570

GO:0045190

GO:0045910

GO:0048298

GO:0048304

GO:0048856

GO:0051726

GO:0098772

GO:0140097

GO:0140657

GO:0140664

HMNXSV003037227

HMNXSV003039134

HMNXSV003050617

ILMN_1737413

ILMN_2203453

PH_hs_0025783

TC02000295.hg

TC02003219.hg

U03911_at

g432997_3p_at

g432997_3p_x_at

Participates

as a member of

MSH2 Variants [nucleoplasm] (Homo sapiens)

Other forms of this molecule

MSH2 [nucleoplasm]

MSH2 GLN601TER [nucleoplasm]

Modified Residues

Name

Nonsense mutation at L-arginine 406

Coordinate

406

PsiMod

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

Disease

Name	Identifier	Synonyms
colorectal cancer	DOID:9256

Cross References

RefSeq

NP_001393570.1, NP_000242.1, NP_001245210.1

OpenTargets

ENSG00000095002

ENSEMBL

ENSG00000095002, ENSP00000233146, ENST00000233146, ENST00000543555, ENSP00000442697

Mondo

0005575

HPA

ENSG00000095002-MSH2

GeneCards

MSH2

PRO

P43246

Pharos - Targets

P43246

Orphanet

MSH2

GlyGen

P43246

PDB

8RZ7, 2O8B, 3THZ, 8OM5, 3THY, 3THX, 2O8F, 2O8D, 2O8C, 2O8E, 8RZ8, 8OMO, 8OMQ, 8R7V, 8RZ9, 8OLX, 8AG6, 8OM9, 8R7E, 8R7C, 8OMA, 3THW

Interactors (19)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P20585 MSH3	2	MSH3 K383Rfs*32 [nucleoplasm] (R-HSA-5578664) MSH3 [nucleoplasm] (R-HSA-5357519)	0.918	14
UniProt:P52701 MSH6	2	MSH6 [nucleoplasm] (R-HSA-5357528) MSH6 L222* [nucleoplasm] (R-HSA-5632954)	0.91	11
UniProt:Q9NXL9 MCM9			0.69	9
UniProt:Q9UQ84-1 EXO1			0.573	3
UniProt:Q8IY92 SLX4	1	SLX4 [nucleoplasm] (R-HSA-5686477)	0.567	5
UniProt:Q92624 APBP2			0.556	3
UniProt:Q9UJA3 MCM8	1	MCM8 [nucleoplasm] (R-HSA-3006646)	0.527	3
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.527	2
UniProt:Q96FW1 OTUB1	2	OTUB1 [nucleoplasm] (R-HSA-6783242) OTUB1 [cytosol] (R-HSA-933411)	0.527	3
UniProt:Q9H4L7 SMRCD			0.527	5
UniProt:Q5S007 LRRK2	1	LRRK2 [cytosol] (R-HSA-5661173)	0.527	3
UniProt:P31749 AKT1	14	p-T308,S473-AKT1 [nucleoplasm] (R-HSA-198357) p-T308,S473-AKT1 [cytosol] (R-HSA-198356) p-S473-AKT1 [plasma membrane] (R-HSA-377265) AKT1 [plasma membrane] (R-HSA-199416) AKT1 [cytosol] (R-HSA-58252) p-T308-AKT1 [cytosol] (R-HSA-198634) p-Y315,Y326-AKT1 [cytosol] (R-HSA-8848757) p-T308,S473-AKT1 [plasma membrane] (R-HSA-199430) p-S473-AKT1 [cytosol] (R-HSA-9841264) AKT1 E17K [plasma membrane] (R-HSA-1500573) p-S473-AKT1 E17K [plasma membrane] (R-HSA-2243944) AKT1 E17K [cytosol] (R-HSA-2219526) p-T308,S473-AKT1 E17K [cytosol] (R-HSA-2243935) p-T308,S473-AKT1 E17K [nucleoplasm] (R-HSA-2399994)	0.519	2
UniProt:O60729 CDC14B	1	CDC14B [nucleoplasm] (R-HSA-3214897)	0.519	2
UniProt:P04049 RAF1	20	p-S338,Y340,Y341-RAF1 [cytosol] (R-HSA-5624465) p-S338-RAF1 [cytosol] (R-HSA-5624469) p-S621-RAF1 S259F [cytosol] (R-HSA-9656124) p-S621-RAF1 S257L [cytosol] (R-HSA-9656121) p-S621-RAF1 P261L [cytosol] (R-HSA-9656106) p-S621-RAF1 N262K [cytosol] (R-HSA-9656101) p-S621-RAF1 P261A [cytosol] (R-HSA-9656103) p-S621-RAF1 P261S [cytosol] (R-HSA-9656113) p-S621-RAF1 S259T [cytosol] (R-HSA-9656130) p-S621-RAF1 P261T [cytosol] (R-HSA-9656115) p-S621-RAF1 P261R [cytosol] (R-HSA-9656110) p-S621-RAF1 S259P [cytosol] (R-HSA-9656127) p-S621-RAF1 T260I [cytosol] (R-HSA-9656136) p-S621-RAF1 T260R [cytosol] (R-HSA-9656139) p-S621-RAF1 V263A [cytosol] (R-HSA-9656148) p-S621-RAF1 R256S [cytosol] (R-HSA-9656119) p-S621-RAF1 T491I [cytosol] (R-HSA-9656143) p-S621-RAF1 D486N [cytosol] (R-HSA-9656088) p-S621-RAF1 S427G [cytosol] (R-HSA-9656134) p-S621-RAF1 L613V [cytosol] (R-HSA-9656098)	0.508	2
UniProt:P39875	1	EXO1 [nucleoplasm] (R-SCE-5357514)	0.508	2
UniProt:P09429 HMGB1	5	HC23,45-HMGB1 [extracellular region] (R-HSA-6797422) HMGB1 [nucleoplasm] (R-HSA-266221) HMGB1 [extracellular region] (R-HSA-879382) HMGB1 [secretory granule lumen] (R-HSA-6803337) HMGB1 [ficolin-1-rich granule lumen] (R-HSA-6803291)	0.499	2
IntAct:EBI-1187714 41			0.499	2
UniProt:O00716 E2F3	2	p-E2F3 [nucleoplasm] (R-HSA-187933) E2F3 [nucleoplasm] (R-HSA-68655)	0.483	2
UniProt:Q9Q2G4 Q9Q2G4			0.462	2

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