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PMS2 [nucleoplasm]
Stable Identifier
R-HSA-5357527
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
Mismatch repair endonuclease PMS2 ecNumber3.1.-.-/ecNumber, PMS2_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
DNA Repair (Homo sapiens)
Mismatch Repair (Homo sapiens)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) (Homo sapiens)
EXO1 interacting with MSH2:MSH3 excises DNA strand containing an insertion/deletion loop (IDL) (Homo sapiens)
EXO1:MLH1:PMS2:MSH2:MSH3:ATP:PCNA:DNA containing IDL of 2 or more bases and single strand incision [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
EXO1 interacts with MSH2:MSH3 (MutSbeta) and MLH1:PMS2 (MutLalpha) (Homo sapiens)
EXO1:MLH1:PMS2:MSH2:MSH3:ATP:PCNA:DNA containing IDL of 2 or more bases and single strand incision [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MLH1:PMS2:MSH2:MSH3:ATP:PCNA:DNA containing IDL of 2 or more bases and single strand incision [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MLH1:PMS2 makes single strand incision near insertion/deletion loop of 2 bases or more (Homo sapiens)
MLH1:PMS2:MSH2:MSH3:ATP:PCNA:DNA containing IDL of 2 bases or more [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MLH1:PMS2:MSH2:MSH3:ATP:PCNA:DNA containing IDL of 2 or more bases and single strand incision [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MSH2:MSH3 recruits MLH1:PMS2 to mismatch and interacts with PCNA (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MLH1:PMS2:MSH2:MSH3:ATP:PCNA:DNA containing IDL of 2 bases or more [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) (Homo sapiens)
EXO1 interacting with MSH2:MSH6 excises single strand DNA containing a mismatch (Homo sapiens)
EXO1:MLH1:PMS2:MSH2:MSH6:ATP:PCNA:DNA containing 1-2 base mismatch and single strand incision [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
EXO1 interacts with MSH2:MSH6 (MutSalpha) and MLH1:PMS2 (MutLalpha) (Homo sapiens)
EXO1:MLH1:PMS2:MSH2:MSH6:ATP:PCNA:DNA containing 1-2 base mismatch and single strand incision [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MLH1:PMS2:MSH2:MSH6:ATP:PCNA:DNA containing 1-2 base mismatch and single strand incision [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
Formation of MSH1:PMS2 Complex (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MLH1:PMS2 makes single strand incision near 1-2 base mismatch (Homo sapiens)
MLH1:PMS2:MSH2:MSH6:ATP:PCNA:DNA containing 1-2 base mismatch [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MLH1:PMS2:MSH2:MSH6:ATP:PCNA:DNA containing 1-2 base mismatch and single strand incision [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MSH2:MSH6 recruits MLH1:PMS2 to mismatch and interacts with PCNA (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
MLH1:PMS2:MSH2:MSH6:ATP:PCNA:DNA containing 1-2 base mismatch [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of Mismatch Repair (MMR) (Homo sapiens)
Defective Mismatch Repair Associated With MLH1 (Homo sapiens)
MLH1 variants-defective DNA mismatch repair (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
Gene expression (Transcription) (Homo sapiens)
RNA Polymerase II Transcription (Homo sapiens)
Generic Transcription Pathway (Homo sapiens)
Transcriptional Regulation by TP53 (Homo sapiens)
TP53 Regulates Transcription of DNA Repair Genes (Homo sapiens)
TP53 stimulates PMS2 expression (Homo sapiens)
PMS2 [nucleoplasm] (Homo sapiens)
External Reference Information
External Reference
UniProt:P54278 PMS2
Gene Names
PMS2, PMSL2
Chain
chain:1-862
Reference Genes
BioGPS Gene:5395 PMS2
COSMIC (genes):PMS2 PMS2
CTD Gene:5395 PMS2
dbSNP Gene:5395 PMS2
ENSEMBL:ENSG00000122512 PMS2
HGNC:9122 PMS2
KEGG Gene (Homo sapiens):5395 PMS2
Monarch:5395 PMS2
NCBI Gene:5395 PMS2
OMIM:600259 PMS2
UCSC:P54278 PMS2
Reference Transcript
RefSeq:NM_001322010.1 PMS2
RefSeq:NM_001322011.1 PMS2
RefSeq:NM_001322013.1 PMS2
RefSeq:NM_001322012.1 PMS2
RefSeq:NM_001322003.1 PMS2
RefSeq:NM_001322014.1 PMS2
RefSeq:NM_000535.6 PMS2
RefSeq:NM_001322004.1 PMS2
RefSeq:NM_001322015.1 PMS2
RefSeq:NM_001322006.1 PMS2
RefSeq:NM_001322005.1 PMS2
RefSeq:XM_017030399.1 PMS2
RefSeq:NM_001322007.1 PMS2
RefSeq:NM_001322009.1 PMS2
RefSeq:NM_001322008.1 PMS2
Other Identifiers
0003290204
11743017_s_at
11747521_s_at
11761599_x_at
17054923
2015_s_at
209805_at
221206_at
2989291
2989293
2989294
2989295
2989298
2989299
2989300
2989302
2989303
2989310
2989311
2989312
2989313
2989314
2989315
2989317
2989318
2989319
2989320
3007530
3007545
3008591
3009543
3009545
3009761
3009773
3009777
3037138
3037139
3037140
3037141
3037143
3037144
3037145
3037146
3037147
3037153
3037154
3037156
3037158
3037161
3037162
3037163
3037164
3037165
3037166
3037168
3037169
3037170
3037171
3037174
3037177
3037178
3037180
3037184
3054238
3057133
3057315
3057316
3063944
32310_f_at
38556_at
526_s_at
5395
8138030
90795_at
91244_at
A_23_P6589
A_23_P93792
GO:0002376
GO:0003674
GO:0003677
GO:0003697
GO:0004518
GO:0004519
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0006259
GO:0006281
GO:0006298
GO:0006950
GO:0006974
GO:0008150
GO:0016446
GO:0016787
GO:0016887
GO:0030983
GO:0032138
GO:0032300
GO:0032389
GO:0032407
GO:0032991
GO:0034641
GO:0036464
GO:0042493
GO:0043167
GO:0043226
GO:0048856
GO:0090305
HMNXSV003047392
Hs.292996.0.A1_3p_x_at
Hs.323954.4.A1_3p_x_at
ILMN_1673862
ILMN_1732171
ILMN_1808300
ILMN_2262203
ILMN_2329744
PH_hs_0027938
TC07001124.hg
TC07002131.hg
TC07002777.hg
U13696_s_at
g13375661_3p_at
g13375661_3p_x_at
g557469_3p_at
Participates
as an input of
MLH1 variants-defective DNA mismatch repair (Homo sapiens)
Formation of MSH1:PMS2 Complex (Homo sapiens)
as an output of
TP53 stimulates PMS2 expression (Homo sapiens)
as a component of
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
Other forms of this molecule
PMS2 R134* [nucleoplasm]
PMS2 R628* [nucleoplasm]
Inferred To
PMS1 [nucleoplasm]
(Saccharomyces cerevisiae)
pms2 [nucleoplasm]
(Danio rerio)
pms-2 [nucleoplasm]
(Caenorhabditis elegans)
PMS2 [nucleoplasm]
(Bos taurus)
PMS2 [nucleoplasm]
(Canis familiaris)
PMS2 [nucleoplasm]
(Plasmodium falciparum)
PMS2 [nucleoplasm]
(Sus scrofa)
pms1 [nucleoplasm]
(Dictyostelium discoideum)
pms1 [nucleoplasm]
(Schizosaccharomyces pombe)
Pms2 [nucleoplasm]
(Drosophila melanogaster)
Pms2 [nucleoplasm]
(Mus musculus)
Pms2 [nucleoplasm]
(Rattus norvegicus)
Cross References
RefSeq
NP_001308939.1
,
NP_001308943.1
,
NP_001308944.1
,
NP_001308938.1
,
XP_016885888.1
,
NP_001308941.1
,
NP_001308942.1
,
NP_001308937.1
,
NP_001308935.1
,
NP_001308940.1
,
NP_001308936.1
,
NP_001308934.1
,
NP_001308932.1
,
NP_001308933.1
,
NP_000526.2
OpenTargets
ENSG00000122512
HPA
ENSG00000122512-PMS2
GeneCards
P54278
Ensembl
ENSP00000494497
,
ENSP00000371758
,
ENST00000643595
,
ENSP00000265849
,
ENST00000382321
,
ENSG00000122512
,
ENST00000265849
PRO
P54278
Pharos - Targets
P54278
Orphanet
15116
GlyGen
P54278
PDB
6MFQ
,
1EA6
,
1H7S
,
5U5R
,
1H7U
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P40692 MLH1
3
MLH1 S252* [nucleoplasm]
(R-HSA-5444526)
MLH1 H329P [nucleoplasm]
(R-HSA-5444512)
MLH1 [nucleoplasm]
(R-HSA-912495)
0.961
21
UniProt:Q9BX63 BRIP1
2
BRIP1 [cytosol]
(R-HSA-2564781)
p-S990,Ac-K1249-BRIP1 [nucleoplasm]
(R-HSA-5687710)
0.597
4
UniProt:Q16658 FSCN1
1
FSCN1 [cytosol]
(R-HSA-6789835)
0.532
6
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