InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PMS2

Summary

InnateDB Gene

IDBG-7921.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PMS2

Gene Name

PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

Synonyms

HNPCC4; PMS2CL; PMSL2

Species

Homo sapiens

Ensembl Gene

ENSG00000122512

Encoded Proteins

IDBP-7923

PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

IDBP-7927

PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

IDBP-363474

PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 7:5973239-6009125

Strand

Reverse strand

Band

p22.1

Transcripts

ENST00000265849	ENSP00000265849
ENST00000382321	ENSP00000371758
ENST00000380416
ENST00000406569
ENST00000441476	ENSP00000392843
ENST00000415839
ENST00000469652

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 54 experimentally validated interaction(s) in this database.

Experimentally validated
Total	54 [view]
Protein-Protein	51 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003697	single-stranded DNA binding
GO:0004519	endonuclease activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0030983	mismatched DNA binding
GO:0032138	single base insertion or deletion binding
GO:0032407	MutSalpha complex binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006281	DNA repair
GO:0006298	mismatch repair
GO:0006974	cellular response to DNA damage stimulus
GO:0016446	somatic hypermutation of immunoglobulin genes
GO:0016447	somatic recombination of immunoglobulin gene segments
GO:0042493	response to drug
GO:0090305	nucleic acid phosphodiester bond hydrolysis

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0015630	microtubule cytoskeleton
GO:0032300	mismatch repair complex
GO:0032389	MutLalpha complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000079109

View Gene Order

ENSBTAG00000007364

Not yet available

Pathways

NETPATH

REACTOME

REACT_228145

Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway

REACT_228019

Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathway

REACT_228013

Mismatch Repair pathway

REACT_216

DNA Repair pathway

KEGG

hsa03430

Mismatch repair pathway

INOH

PID NCI

p53downstreampathway

Direct p53 effectors

Cross-References

SwissProt

P54278

TrEMBL

C9J167

UniProt Splice Variant

Entrez Gene

5395

UniGene

Hs.597070 Hs.632637

RefSeq

NM_000535 XM_006715742 XM_006715744

HUGO

HGNC:9122

OMIM

600259

CCDS

CCDS5343

HPRD

IMGT

EMBL

AB103082 AB103083 AB103085 AC005995 AK312390 BC093921 U13696 U14658

GenPept

AAA50390 AAA63923 AAH93921 AAS00390 BAD89425 BAD89426 BAD89428 BAG35307

RNA Seq Atlas

5395