PMS2 R628* [nucleoplasm]

Stable Identifier
R-HSA-5632980
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
PMS2 ARG628TER, Mismatch repair endonuclease PMS2 ecNumber3.1.-.-/ecNumber, PMS2_HUMAN
Icon
PMS2 R628* [nucleoplasm] icon
PMS2 R628* [nucleoplasm] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
16472587 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)

Hendriks, YM, Jagmohan-Changur, S, van der Klift, HM, Morreau, H, van Puijenbroek, M, Tops, C, van Os, T, Wagner, A, Ausems, MG, Gomez, E, Breuning, MH, Bröcker-Vriends, AH, Vasen, HF, Wijnen, JT

Gastroenterology 2006
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:hsa:5395 PMS2
Monarch:5395 PMS2
NCBI Gene:5395 PMS2
OMIM:600259 PMS2
UCSC:P54278 PMS2
Reference Transcript
Other Identifiers
11743017_s_at
11747521_s_at
11761599_x_at
17054923
2015_s_at
209805_PM_at
209805_at
221206_PM_at
221206_at
2989291
2989293
2989294
2989295
2989298
2989299
2989300
2989301
2989302
2989303
2989310
2989311
2989312
2989313
2989314
2989315
2989317
2989318
2989319
2989320
2989321
2989322
2989323
2989324
2989325
3037133
3037134
3037135
3037136
3037137
3037138
3037139
3037140
3037141
3037143
3037144
3037145
3037146
3037147
3037153
3037154
3037155
3037156
3037158
3037160
3037161
3037162
3037163
3037164
3037165
3037166
3037168
3037169
3037170
3037171
3037173
3037174
3037175
3037176
3037181
3037183
3037184
3037186
38556_at
526_s_at
5395
8138030
90795_at
91244_at
A_23_P6589
A_23_P93792
A_24_P889980
GO:0000166
GO:0002376
GO:0003677
GO:0003697
GO:0004518
GO:0004519
GO:0005515
GO:0005524
GO:0005634
GO:0005654
GO:0005829
GO:0006281
GO:0006298
GO:0006310
GO:0006974
GO:0009410
GO:0016446
GO:0016447
GO:0016787
GO:0016887
GO:0030983
GO:0032138
GO:0032300
GO:0032389
GO:0032407
GO:0048298
GO:0048304
GO:0140664
HMNXSV003047392
ILMN_1670300
ILMN_1677887
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 a member of
Other forms of this molecule
PMS2 [nucleoplasm]
PMS2 R134* [nucleoplasm]
Modified Residues
Name
Nonsense mutation at L-arginine 628
Coordinate
628
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
OpenTargets
ENSEMBL
Mondo
HPA
GeneCards
PRO
Pharos - Targets
Orphanet
GlyGen
PDB
Interactors (4)
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