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FLASH GENE

Symbol

PMS2

contributors: mct - updated : 05-05-2010

HGNC name	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
HGNC id	9122

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMMRD constitutional mismatch repair-deficiency syndrome HNPCC4 hereditary non polyposis colorectal cancer, type 4
Location	7p22.1      Physical location : 6.012.870 - 6.048.737
Synonym name	DNA mismatch repair protein PMS2
	mismatch repair endonuclease
	PMS1 protein homolog 2
Synonym symbol(s)	HNPCC4, PMSL2, H_DJ0042M02.9, PMS2CL
EC.number	3.1.-.-

DNA

TYPE	functioning gene
STRUCTURE	35.87 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - PDGFA - D7S517 - PMS2 - D7S481 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000535 15 - 2851 NP_000526 95.7 862 - 1995 8666379

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine         Endocrine thyroid       highly Lymphoid/Immune spleen       highly Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium     Epithelial barrier/lining uroepithelium     Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a region of homology with other MutS or MutL homologs, comprising a region of 150 aminoacids encompassing
	a putative helix-turn-helix domain associated with an adenine nucleotide and magnesium binding sites

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to yeast mutator gene (bacterial mutL)

Homologene

FAMILY

DNA mismatch repair mutL/hexB family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	correctin of base-base mismatches and insertion-deletion loops resulting from DNA replication and recombination events
	possessing an intrinsic low-level ATPase actvity
	play a far more important role in Lynch syndrome than initially thought
	its endonuclease activity has distinct biological functions and is essential for genome maintenance and tumor suppression
	endonuclease function of PMS2 does not play an essential role in meiosis, but it is possible that the protein also contributes to checkpoint-signaling pathways during premeiotic S-phase and spermatogenesis

CELLULAR PROCESS	cell cycle,division,meiosis
	nucleotide, repair, mismatch repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

mismatch repair

a component	heterodimerizing with MLH1
	essential component of DNA mismatch repair (MMR) complexes, which play an important role in maintaining genetic stability

INTERACTION

DNA

RNA

small molecule

protein

MLH1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HNPCC4 , CMMRD

related resource

International Group on Hereditary Non-Polyposis Colorectal Cancer

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in colon and uterus tumor

Susceptibility

to prostate cancer

Variant & Polymorphism SNP , other	three SNP causing defective protein-protein interaction with MLH1
	rare genetic variants that confer a high risk of prostate cancer when mutated

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS