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 Aaltonen, LA, Leach, FS, Papadopoulos, N, Nyström-Lahti, M, Nicolaides, NC, Jen, J, Parsons, R, Sistonen, P, Peltomäki, P, Liu, B	Cell	1993

External Reference Information

External Reference

UniProt:P43246 MSH2

Gene Names

MSH2

Chain

initiator methionine:, chain:2-934

Reference Genes

BioGPS Gene:4436 MSH2

COSMIC (genes):MSH2 MSH2

CTD Gene:4436 MSH2

dbSNP Gene:4436 MSH2

ENSEMBL:ENSG00000095002 MSH2

ENSEMBL_homo_sapiens_GENE:ENSG00000095002.15 MSH2

HGNC:7325 MSH2

KEGG Gene (Homo sapiens):4436 MSH2

Monarch:4436 MSH2

NCBI 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

2481016

2481017

2481018

2481020

2481022

2481023

2481025

2481029

2481030

2481031

4436

8041867

860_at

861_g_at

A_14_P118153

A_14_P118983

A_23_P102471

A_33_P3287502

GE58211

GO:0000166

GO:0000278

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:0006091

GO:0006119

GO:0006281

GO:0006298

GO:0006301

GO:0006302

GO:0006310

GO:0006312

GO:0006974

GO:0007281

GO:0008094

GO:0008340

GO:0008584

GO:0008630

GO:0010165

GO:0010224

GO:0012501

GO:0016020

GO:0016446

GO:0016447

GO:0016787

GO:0016887

GO:0019237

GO:0019724

GO:0022414

GO:0023052

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:0043226

GO:0043524

GO:0043531

GO:0043570

GO:0045190

GO:0045910

GO:0048298

GO:0048304

GO:0048856

GO:0051096

GO:0051726

GO:0071168

GO:0140097

GO:0140299

GO:0140657

GO:0140664

HMNXSV003037227

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_000242.1, NP_001245210.1

OpenTargets

ENSG00000095002

GeneCards

P43246

HPA

ENSG00000095002-MSH2

Ensembl

ENST00000543555, ENSP00000442697, ENST00000233146, ENSP00000233146, ENSG00000095002

PRO

P43246

Pharos - Targets

P43246

Orphanet

16466

PDB

3THZ, 2O8F, 2O8B, 3THW, 2O8C, 8OM9, 8AG6, 3THX, 2O8D, 8OMO, 3THY, 2O8E, 8OM5, 8OMA, 8OMQ, 8OLX

Interactors (18)

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 L222* [nucleoplasm] (R-HSA-5632954) MSH6 [nucleoplasm] (R-HSA-5357528)	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:Q96FW1 OTUB1	2	OTUB1 [cytosol] (R-HSA-933411) OTUB1 [nucleoplasm] (R-HSA-6783242)	0.564	3
UniProt:Q92624 APBP2			0.556	3
UniProt:Q9UJA3 MCM8	1	MCM8 [nucleoplasm] (R-HSA-3006646)	0.527	3
UniProt:Q5S007 LRRK2	1	LRRK2 [cytosol] (R-HSA-5661173)	0.527	3
UniProt:Q9H4L7 SMRCD			0.527	5
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.527	2
UniProt:O60729 CDC14B	1	CDC14B [nucleoplasm] (R-HSA-3214897)	0.519	2
UniProt:P39875	1	EXO1 [nucleoplasm] (R-SCE-5357514)	0.508	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
IntAct:EBI-1187714 41			0.499	2
UniProt:P09429 HMGB1	5	HMGB1 [secretory granule lumen] (R-HSA-6803337) HMGB1 [ficolin-1-rich granule lumen] (R-HSA-6803291) HMGB1 [extracellular region] (R-HSA-879382) HMGB1 [nucleoplasm] (R-HSA-266221) HC23,45-HMGB1 [extracellular region] (R-HSA-6797422)	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