PMS2 report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of PMS2 at tissue level.

III. Associated gene sets

GO_0048298Biological processpositive regulation of isotype switching to IgA isotypes
GO_0016447Biological processsomatic recombination of immunoglobulin gene segments
GO_0048304Biological processpositive regulation of isotype switching to IgG isotypes
GO_0016446Biological processsomatic hypermutation of immunoglobulin genes
GO_0009410Biological processresponse to xenobiotic stimulus
GO_0006298Biological processmismatch repair
GO_0005654Cellular componentnucleoplasm
GO_0032389Cellular componentMutLalpha complex
GO_0005829Cellular componentcytosol
GO_0005634Cellular componentnucleus
GO_0003677Molecular functionDNA binding
GO_0032407Molecular functionMutSalpha complex binding
GO_0004519Molecular functionendonuclease activity
GO_0140664Molecular functionATP-dependent DNA damage sensor activity
GO_0003697Molecular functionsingle-stranded DNA binding
GO_0032138Molecular functionsingle base insertion or deletion binding
GO_0005524Molecular functionATP binding
GO_0005515Molecular functionprotein binding
GO_0016887Molecular functionATP hydrolysis activity

IV. Literature review

[source]
Gene namePMS2
Protein namePostmeiotic segregation increased 2 nirs variant 3
Postmeiotic segregation increased 2 nirs variant 6
PMS1 homolog 2, mismatch repair system component
Mismatch repair endonuclease PMS2 (EC 3.1.-.-) (DNA mismatch repair protein PMS2) (PMS1 protein homolog 2)
Postmeiotic segregation increased 2 nirs variant 5
PMS2 postmeiotic segregation increased 2
SynonymsPMSL2
DescriptionFUNCTION: Component of the post-replicative DNA mismatch repair system (MMR) . Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Possesses an ATPase activity, but in the absence of gross structural changes, ATP hydrolysis may not be necessary for proficient mismatch repair . .

AccessionsA0A8V8TQM5
ENST00000699818.1
A0A8V8TNX1
ENST00000699763.1
A0A8V8TQN0
A0A8V8TQT4
ENST00000699919.1
ENST00000699758.1
ENST00000699821.1
ENST00000699753.1
C9J167
A0A8V8TQ88
ENST00000699920.1
ENST00000699820.1
Q5FBW8
A0A8V8TP66
ENST00000699754.1
A0A8V8TP84
A0A8V8TNR3
A0A8V8TNV6
A0A8V8TPE7
ENST00000699917.1
A0A8V8TQH3
A0A8V8TNY8
A0A8V8TP79
ENST00000699766.1
ENST00000642292.1
ENST00000699830.1
ENST00000699826.1
ENST00000699825.1
A0A8V8TQ92
ENST00000699838.1
A0A8V8TNW1
ENST00000699819.1
ENST00000699954.1
ENST00000699816.1
ENST00000699953.1
ENST00000699952.1
A0A8V8TP89
A0A2R8Y6S3
ENST00000699828.1
ENST00000699918.1
ENST00000699767.1
ENST00000699822.1
ENST00000699817.1
ENST00000642456.1
A0A8V8TQS5
A0A8V8TP55
A0A8V8TQR6
ENST00000699760.1
A0A8V8TPK2
ENST00000699951.1
A0A8V8TNQ7
ENST00000699930.2
ENST00000643595.1 [P54278-4]
ENST00000699840.2
A0A8V8TQH7
ENST00000699765.1
A5YRY4
ENST00000699916.1
ENST00000699824.1
A0A8V8TPJ6
A0A8V8TPD1
ENST00000699829.1
ENST00000699761.1
ENST00000699823.1
ENST00000699815.1
ENST00000644110.2
ENST00000406569.8 [P54278-3]
ENST00000265849.12 [P54278-1]
ENST00000699827.1
A0A8V8TQ50
ENST00000699768.1
ENST00000699752.1
ENST00000699837.1
Q5FBX0
ENST00000699762.1
ENST00000699755.1
A0A8V8TNR7
A0A8V8TQI1
A0A8V8TNZ8
ENST00000699929.1 [P54278-4]
ENST00000699811.1
ENST00000699764.1
A0A8V8TQ41
A0A8V8TNX6
Q5FBW7
ENST00000699928.1
ENST00000699757.1
ENST00000699756.1
A0A8V8TP72
A0A8V8TP61
P54278
A0A8V8TPE1
ENST00000699932.1
A0A8V8TQG9
ENST00000699839.1
ENST00000382321.5 [P54278-2]
ENST00000699814.2