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PMS2

GENERAL INFORMATION

Gene name

 PMS2

Gene description

 PMS1 homolog 2, mismatch repair system component

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
CAB010235
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 PMS2 (HGNC Symbol)

Synonyms

 HNPCC4, H_DJ0042M02.9, MLH4, PMSL2

Description

 PMS1 homolog 2, mismatch repair system component (HGNC Symbol)

Entrez gene summary

 This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 7

Cytoband

 p22.1

Chromosome location (bp)

 5973239 - 6009125

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000122512 (version 83.38)

Entrez gene

 5395

UniProt

 P54278 (UniProt - Evidence at protein level)

neXtProt

 NX_P54278

Antibodypedia

 PMS2 antibodies

PROTEIN BROWSER
PMS2-001
PMS2-006
PMS2-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PMS2-001
ENSP00000265849
ENST00000265849
P54278 [Direct mapping]
Mismatch repair endonuclease PMS2
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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0004519 [endonuclease activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0015630 [microtubule cytoskeleton]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016447 [somatic recombination of immunoglobulin gene segments]
GO:0016887 [ATPase activity]
GO:0030983 [mismatched DNA binding]
GO:0032138 [single base insertion or deletion binding]
GO:0032389 [MutLalpha complex]
GO:0032407 [MutSalpha complex binding]
GO:0042493 [response to drug]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 862 aa
95.8 kDa 		No 0
PMS2-006
ENSP00000371758
ENST00000382321
P54278 [Direct mapping]
Mismatch repair endonuclease PMS2
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0004519 [endonuclease activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0015630 [microtubule cytoskeleton]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016887 [ATPase activity]
GO:0030983 [mismatched DNA binding]
GO:0032138 [single base insertion or deletion binding]
GO:0032389 [MutLalpha complex]
GO:0032407 [MutSalpha complex binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 461 aa
51.3 kDa 		No 0
PMS2-201
ENSP00000392843
ENST00000441476
C9J167 [Direct mapping]
Mismatch repair endonuclease PMS2
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006298 [mismatch repair]
GO:0015630 [microtubule cytoskeleton]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016887 [ATPase activity]
GO:0030983 [mismatched DNA binding]
GO:0032389 [MutLalpha complex]
Show all
 756 aa
84.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.