Manteia - Molecule gene

ENSMUSG00000079109

Mus musculus

Features

Gene ID:	ENSMUSG00000079109

Biological name :	Pms2

Synonyms :	PMS1 homolog2, mismatch repair system component / Pms2

Possible biological names infered from orthology :	P54278

Species:	Mus musculus

Chr. number:	5
Strand:	1
Band:	G2
Gene start:	143909964
Gene end:	143933968

Corresponding Affymetrix probe sets:	10527268 (MoGene1.0st) 1423539_at (Mouse Genome 430 2.0 Array) 1432421_at (Mouse Genome 430 2.0 Array) 1436273_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000133062 Ensembl peptide - ENSMUSP00000106337 Ensembl peptide - ENSMUSP00000119875 NCBI entrez gene - 18861 See in Manteia. MGI - MGI:104288 RefSeq - XM_017320714 RefSeq - NM_008886 RefSeq - XM_006504812 RefSeq - XM_017320710 RefSeq Peptide - NP_032912 swissprot - F6TK25 swissprot - E9QLM4 swissprot - B9EJ22 Ensembl - ENSMUSG00000079109

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
pms2	ENSDARG00000075672	Danio rerio
PMS2	ENSGALG00000003430	Gallus gallus
PMS2	ENSG00000122512	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Pms1 / PMS1 homolog 1, mismatch repair system component / P54277*	ENSMUSG00000026098	23
Gm42421	ENSMUSG00000104633	12

Protein motifs (from Interpro)

Interpro ID	Name
IPR002099	DNA mismatch repair protein family, N-terminal
IPR003594	Histidine kinase/HSP90-like ATPase
IPR013507	DNA mismatch repair protein, S5 domain 2-like
IPR014721	Ribosomal protein S5 domain 2-type fold, subgroup
IPR014762	DNA mismatch repair, conserved site
IPR014790	MutL, C-terminal, dimerisation
IPR020568	Ribosomal protein S5 domain 2-type fold
IPR036890	Histidine kinase/HSP90-like ATPase superfamily
IPR037198	MutL, C-terminal domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006298	mismatch repair	IEA
biological_process	GO:0042493	response to drug	IEA
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0005654	nucleoplasm	IEA
cellular_component	GO:0005829	cytosol	IEA
cellular_component	GO:0005886	plasma membrane	IEA
cellular_component	GO:0015630	microtubule cytoskeleton	IEA
cellular_component	GO:0036464	cytoplasmic ribonucleoprotein granule	IEA
molecular_function	GO:0003677	DNA binding	IEA
molecular_function	GO:0003697	single-stranded DNA binding	IEA
molecular_function	GO:0005524	ATP binding	IEA
molecular_function	GO:0030983	mismatched DNA binding	IEA
molecular_function	GO:0032138	single base insertion or deletion binding	IEA
molecular_function	GO:0032407	MutSalpha complex binding	IEA

Pathways (from Reactome)

Pathway description

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

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000477	abnormal intestine morphology	"malformation of the digestive tube passing from the stomach to the anus" [J:48968]	Show Allelic Composition: Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * C57BL/6 * C57BL/6J * SJL
MP:0001147	small testis	"reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0001925	male infertility	"inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0002023	B cell derived lymphoma	"heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0002024	T cell derived lymphoma	"group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr
MP:0002032	sarcoma	"connective tissue neoplasm associated with the proliferation of mesodermal cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
MP:0002038	carcinoma	"malignant neoplasm arising from epithelial cells, usually glandular or squamous" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sall1^{tm5(cre/ERT2)Ryn}/Sall1^tm4.1Ryn Genetic Background: involves: 129P2/OlaHsd Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas Allelic Composition: Apc^Min/Apc⁺,Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas * C57BL/6J Allelic Composition: Pms2^tm2(cre)Lisk/Pms2^tm2(cre)Lisk Genetic Background: Not Specified
MP:0002216	abnormal seminiferous tubule morphology	"malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0002404	intestinal adenoma	"benign tumors of the small and large intestine" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Apc^Min/Apc⁺,Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0002686	globozoospermia	"malformation of the acrosome resulting in a round sperm head" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd
MP:0002687	oligozoospermia	"reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd
MP:0002947	hemangioma	"proliferation of blood vessels leading to a mass that resembles a neoplasm" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:87544]	Show Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr
MP:0003155	abnormal telomere length	"abnormal length of the terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability; normal length is a few hundred base pairs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
MP:0003324	liver adenoma	"benign epithelial neoplasm of the liver" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr
MP:0004499	increased incidence of chemically-induced tumors	"higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Apc^Min/Apc⁺,Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0004816	abnormal class switch recombination	"anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0004901	decreased male germ cell number	"reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0005169	abnormal male meiosis	"malfunction in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd
MP:0005578	teratozoospermia	"presence of malformed spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0005621	abnormal cell physiology	"aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
MP:0008011	intestinal polyps	"abnormal tissue masses that protrude into the lumen of the intestine and are tethered to the wall of the intestine" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Apc^Min/Apc⁺,Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0008014	lung tumor	"presence of abnormal, rapidly proliferating cells on the lung usually in the form of a distinct mass" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺,Kras^tm4Tyj/Kras⁺,Pms2^tm2(cre)Lisk/Pms2^tm2(cre)Lisk Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor
MP:0008058	abnormal DNA repair	"any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]	Show Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
MP:0008866	chromosomal instability	"abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", PMID:12446840]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
MP:0008885	increased enterocyte apoptosis	"increase in the timing or the number of B cells undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
MP:0008892	abnormal sperm flagellum	"any strucutral anomaly of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MESH:A05.360.490.890.840]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd
MP:0009230	abnormal sperm head morphology	"any structural abnormality of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0009238	coiled sperm flagellum	"abnormal twisting of the sperm flagellum into coils or spirals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0009239	short sperm flagellum	"decreased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas
MP:0009308	adenocarcinoma	"malignant neoplasm of epithelial cells in a glandular or glandular-like pattern" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr
MP:0009797	abnormal mismatch repair	"any functional anomaly in the system that promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination" [GO:0006298]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺,Kras^tm4Tyj/Kras⁺,Pms2^tm2(cre)Lisk/Pms2^tm2(cre)Lisk Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺,Pms2^tm2(cre)Lisk/Pms2^tm2(cre)Lisk Genetic Background: involves: 129S4/SvJaeSor
MP:0012431	increased lymphoma incidence	"greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Pms2^tm1.1Wed/Pms2^tm1.1Wed Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk Genetic Background: involves: 129S2/SvPas Allelic Composition: Pms2^tm1Lisk/Pms2^tm1Lisk,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000005370	Msh6 / P54276 / DNA mismatch repair protein Msh6 / P52701* / mutS homolog 6*	/ complex / reaction
ENSMUSG00000024151	Msh2 / P43247 / DNA mismatch repair protein Msh2 / P43246* / mutS homolog 2*	/ complex / reaction
ENSMUSG00000027342	Pcna / P17918 / proliferating cell nuclear antigen / P12004*	/ complex / reaction
ENSMUSG00000032498	Mlh1 / Q9JK91 / DNA mismatch repair protein Mlh1 / P40692* / mutL homolog 1*	/ complex / reaction
ENSMUSG00000039748	Exo1 / Q9QZ11 / Exonuclease 1 / Q9UQ84*	/ reaction

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr