|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | The expression of mismatched repair genes and their correlation with clinicopathological parameters and response to neo-adjuvant chemotherapy in breast cancer. | Chintamani, etal., Int Semin Surg Oncol. 2007 Feb 14;4:5. |
2. | Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. | De Rosa M, etal., Oncogene. 2000 Mar 23;19(13):1719-23. |
3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
5. | Genetic Susceptibility to Distinct Bladder Cancer Subphenotypes. | Guey LT, etal., Eur Urol. 2009 Aug 12. |
6. | Paternal exposure to cyclophosphamide induces DNA damage and alters the expression of DNA repair genes in the rat preimplantation embryo. | Harrouk W, etal., Mutat Res 2000 Nov 9;461(3):229-41. |
7. | Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). | Hendriks YM, etal., Gastroenterology. 2006 Feb;130(2):312-22. |
8. | DNA mismatch repair defects: role in colorectal carcinogenesis. | Jacob S and Praz F, Biochimie. 2002 Jan;84(1):27-47. |
9. | Mechanisms and functions of DNA mismatch repair. | Li GM Cell Res. 2008 Jan;18(1):85-98. |
10. | Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. | Maletzki C, etal., Mol Carcinog. 2017 Jul;56(7):1753-1764. doi: 10.1002/mc.22632. Epub 2017 Mar 30. |
11. | Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. | Mann A, etal., Eur J Cancer. 2008 Oct;44(15):2259-65. Epub 2008 Aug 22. |
12. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
13. | Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. | Nicolaides NC, etal., Nature. 1994 Sep 1;371(6492):75-80. |
14. | The elevated expression of a mismatch repair protein is a predictor for biochemical recurrence after radical prostatectomy. | Norris AM, etal., Cancer Epidemiol Biomarkers Prev. 2009 Jan;18(1):57-64. |
15. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
16. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
17. | GOA pipeline | RGD automated data pipeline |
18. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
19. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
20. | Comprehensive gene review and curation | RGD comprehensive gene curation |
PMID:9500552 | PMID:9618520 | PMID:10359802 | PMID:10429667 | PMID:10430621 | PMID:10871409 | PMID:11313994 | PMID:11809883 | PMID:11828012 | PMID:12477932 | PMID:15480418 | PMID:16204034 |
PMID:16403449 | PMID:16713580 | PMID:16728433 | PMID:23071719 | PMID:23709753 |
Pms2 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PMS2 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pms2 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pms2 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PMS2 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PMS2 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pms2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PMS2 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
LOC103246803 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pms2 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Pms2
146 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH141752 |
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
RefSeq Transcripts | NM_001105908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001399795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017598288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039089178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039089179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005491606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005491607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010056366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC126486 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF381287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC089909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC160858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000067021 ⟹ ENSRNOP00000061927 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000078603 ⟹ ENSRNOP00000069740 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000094513 ⟹ ENSRNOP00000079389 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001105908 ⟹ NP_001099378 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001399795 ⟹ NP_001386724 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_017598288 ⟹ XP_017453777 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_039089178 ⟹ XP_038945106 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039089179 ⟹ XP_038945107 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XR_005491606 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XR_005491607 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XR_010056366 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001099378 | (Get FASTA) | NCBI Sequence Viewer |
NP_001386724 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017453777 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038945106 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038945107 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI60858 | (Get FASTA) | NCBI Sequence Viewer |
EDL89648 | (Get FASTA) | NCBI Sequence Viewer | |
EDL89649 | (Get FASTA) | NCBI Sequence Viewer | |
EDL89650 | (Get FASTA) | NCBI Sequence Viewer | |
EDL89651 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000061927.2 | ||
ENSRNOP00000069740.2 | |||
ENSRNOP00000079389.1 |
RefSeq Acc Id: | NP_001099378 ⟸ NM_001105908 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A6K1J3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017453777 ⟸ XM_017598288 |
- Peptide Label: | isoform X1 |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000061927 ⟸ ENSRNOT00000067021 |
Ensembl Acc Id: | ENSRNOP00000069740 ⟸ ENSRNOT00000078603 |
RefSeq Acc Id: | XP_038945106 ⟸ XM_039089178 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038945107 ⟸ XM_039089179 |
- Peptide Label: | isoform X2 |
Ensembl Acc Id: | ENSRNOP00000079389 ⟸ ENSRNOT00000094513 |
RefSeq Acc Id: | NP_001386724 ⟸ NM_001399795 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B1H246 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-B1H246-F1-model_v2 | AlphaFold | B1H246 | 1-853 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13698434 | ||||||||
Promoter ID: | EPDNEW_R8957 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Pms2_1 | ||||||||
Description: | PMS1 homolog 2, mismatch repair system component | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | RGD:1305483 | AgrOrtholog |
BioCyc Gene | G2FUF-20025 | BioCyc |
Ensembl Genes | ENSRNOG00000001040 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000067021.3 | UniProtKB/TrEMBL |
ENSRNOT00000078603.3 | UniProtKB/TrEMBL | |
ENSRNOT00000094513.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.1370.100 | UniProtKB/TrEMBL |
3.30.1540.20 | UniProtKB/TrEMBL | |
3.30.230.10 | UniProtKB/TrEMBL | |
3.30.565.10 | UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:8365723 | IMAGE-MGC_LOAD |
InterPro | DNA_mismatch_repair | UniProtKB/TrEMBL |
DNA_mismatch_repair_C | UniProtKB/TrEMBL | |
DNA_mismatch_repair_CS | UniProtKB/TrEMBL | |
HATPase_C_sf | UniProtKB/TrEMBL | |
MutL/Mlh/Pms | UniProtKB/TrEMBL | |
MutL_C | UniProtKB/TrEMBL | |
MutL_C_dimsub | UniProtKB/TrEMBL | |
MutL_C_regsub | UniProtKB/TrEMBL | |
MutL_C_sf | UniProtKB/TrEMBL | |
Ribosomal_S5_D2-typ_fold | UniProtKB/TrEMBL | |
Ribosomal_S5_D2-typ_fold_subgr | UniProtKB/TrEMBL | |
MGC_CLONE | MGC:187611 | IMAGE-MGC_LOAD |
NCBI Gene | 288479 | ENTREZGENE |
PANTHER | MISMATCH REPAIR ENDONUCLEASE PMS2 | UniProtKB/TrEMBL |
PTHR10073 | UniProtKB/TrEMBL | |
Pfam | DNA_mis_repair | UniProtKB/TrEMBL |
HATPase_c_3 | UniProtKB/TrEMBL | |
MutL_C | UniProtKB/TrEMBL | |
PharmGKB | PMS2 | RGD |
PhenoGen | Pms2 | PhenoGen |
PROSITE | DNA_MISMATCH_REPAIR_1 | UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000001040 | RatGTEx |
SMART | DNA_mis_repair | UniProtKB/TrEMBL |
MutL_C | UniProtKB/TrEMBL | |
Superfamily-SCOP | Ribosomal_S5_D2-typ_fold | UniProtKB/TrEMBL |
SSF118116 | UniProtKB/TrEMBL | |
SSF55874 | UniProtKB/TrEMBL | |
UniProt | A0A0G2JW47_RAT | UniProtKB/TrEMBL |
A0A8I5ZND0_RAT | UniProtKB/TrEMBL | |
A6K1J3 | ENTREZGENE, UniProtKB/TrEMBL | |
B1H246 | ENTREZGENE, UniProtKB/TrEMBL | |
D4A360_RAT | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-04-04 | Pms2 | PMS1 homolog 2, mismatch repair system component | Pms2 | postmeiotic segregation increased 2 (S. cerevisiae) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2013-03-26 | Pms2 | postmeiotic segregation increased 2 (S. cerevisiae) | Pms2 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | Name changed | 629549 | APPROVED |
2008-09-09 | Pms2 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | Pms2 | postmeiotic segregation increased 2 (S. cerevisiae) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | Pms2 | postmeiotic segregation increased 2 (S. cerevisiae) | Pms2_predicted | postmeiotic segregation increased 2 (S. cerevisiae) (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Pms2_predicted | postmeiotic segregation increased 2 (S. cerevisiae) (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |