PMS2P5 (PMS1 homolog 2, mismatch repair system component pseudogene 5) - Rat Genome Database

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Gene: PMS2P5 (PMS1 homolog 2, mismatch repair system component pseudogene 5) Homo sapiens
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Symbol: PMS2P5
Name: PMS1 homolog 2, mismatch repair system component pseudogene 5
RGD ID: 1354240
HGNC Page HGNC:9130
Description: Predicted to enable ATP hydrolysis activity and ATP-dependent DNA damage sensor activity. Predicted to be involved in mismatch repair. Predicted to be part of mismatch repair complex.
Type: pseudo (Ensembl: transcribed_unprocessed_pseudogene)
RefSeq Status: VALIDATED
Previously known as: MGC34222; PMS2L5; PMS7
Related Functional Gene: PMS2  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38774,890,768 - 74,921,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl774,894,116 - 74,897,835 (+)EnsemblGRCh38hg38GRCh38
GRCh37774,306,887 - 74,336,166 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36773,944,837 - 73,959,790 (+)NCBINCBI36Build 36hg18NCBI36
Build 34773,751,551 - 73,766,504NCBI
Celera771,059,446 - 71,060,147 (+)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef74,970,877 - 4,985,897 (+)NCBIHuRef
CHM1_1774,450,184 - 74,480,554 (+)NCBICHM1_1
T2T-CHM13v2.0776,093,073 - 76,123,445 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2773,639,951 - 73,669,230 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7980603   PMID:8586419   PMID:10737800   PMID:12477932   PMID:21873635   PMID:33961781  


Genomics

Variants

.
Variants in PMS2P5
1 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:734
Count of miRNA genes:346
Interacting mature miRNAs:379
Transcripts:ENST00000318568, ENST00000337023, ENST00000380410, ENST00000394959, ENST00000398065
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407407282GWAS1056258_Hmean reticulocyte volume QTL GWAS1056258 (human)3e-12reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)77491524474915245Human

Markers in Region
RH79612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,897,693 - 99,897,942UniSTSGRCh37
GRCh37774,335,871 - 74,336,120UniSTSGRCh37
Build 36773,973,807 - 73,974,056RGDNCBI36
Celera771,059,852 - 71,060,101RGD
Celera794,633,026 - 94,633,275UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q22.1UniSTS
HuRef794,532,577 - 94,532,826UniSTS
CRA_TCAGchr7v2773,668,935 - 73,669,184UniSTS
CRA_TCAGchr7v2799,257,779 - 99,258,028UniSTS
GeneMap99-GB4 RH Map7428.43UniSTS
RH46934  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7q11.23UniSTS
RH71228  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7q11.23UniSTS
GeneMap99-GB4 RH Map7426.84UniSTS
NCBI RH Map7887.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1199 2430 2776 2234 4924 1719 2338 4 621 1853 463 2262 7164 6341 52 3692 846 1727 1606 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NR_027775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA621085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC211424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF848566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF984173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX116204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW407867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000398065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,894,116 - 74,897,835 (+)Ensembl
RefSeq Acc Id: NR_027775
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,890,768 - 74,906,225 (+)NCBI
GRCh37774,306,894 - 74,336,166 (+)RGD
HuRef74,970,877 - 4,985,897 (+)ENTREZGENE
CHM1_1774,450,184 - 74,465,641 (+)NCBI
T2T-CHM13v2.0776,093,073 - 76,108,530 (+)NCBI
CRA_TCAGchr7v2773,639,951 - 73,669,230 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027776
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,890,768 - 74,906,225 (+)NCBI
GRCh37774,306,894 - 74,336,166 (+)RGD
HuRef74,970,877 - 4,985,897 (+)ENTREZGENE
CHM1_1774,450,184 - 74,465,641 (+)NCBI
T2T-CHM13v2.0776,093,073 - 76,108,530 (+)NCBI
CRA_TCAGchr7v2773,639,951 - 73,669,230 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027777
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,890,768 - 74,921,138 (+)NCBI
GRCh37774,306,894 - 74,336,166 (+)RGD
Celera771,059,446 - 71,060,147 (+)RGD
CHM1_1774,450,184 - 74,480,554 (+)NCBI
T2T-CHM13v2.0776,093,073 - 76,123,445 (+)NCBI
CRA_TCAGchr7v2773,639,951 - 73,669,230 (+)NCBI
Sequence:

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MQ11-F1-model_v2 AlphaFold A8MQ11 1-134 view protein structure

Promoters
RGD ID:6806078
Promoter ID:HG_KWN:58039
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000306533,   ENST00000337023,   NR_027776,   OTTHUMT00000343742,   OTTHUMT00000343743,   UC010LBW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36773,944,574 - 73,945,074 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
COSMIC PMS2P5 COSMIC
Ensembl Genes ENSG00000123965 Ensembl
  ENSG00000304176 ENTREZGENE
Ensembl Transcript ENST00000800353 ENTREZGENE
  ENST00000800436 ENTREZGENE
  ENST00000800442 ENTREZGENE
Gene3D-CATH 3.30.565.10 UniProtKB/Swiss-Prot
GTEx ENSG00000123965 GTEx
  ENSG00000304176 GTEx
HGNC ID HGNC:9130 ENTREZGENE
Human Proteome Map PMS2P5 Human Proteome Map
InterPro HATPase_C_sf UniProtKB/Swiss-Prot
  MutL/Mlh/Pms UniProtKB/Swiss-Prot
NCBI Gene 5383 ENTREZGENE
PANTHER MISMATCH REPAIR ENDONUCLEASE PMS2 UniProtKB/Swiss-Prot
  PTHR10073 UniProtKB/Swiss-Prot
PharmGKB PA33456 PharmGKB
Superfamily-SCOP SSF55874 UniProtKB/Swiss-Prot
UniProt A8MQ11 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-14 PMS2P5  PMS1 homolog 2, mismatch repair system component pseudogene 5    postmeiotic segregation increased 2 pseudogene 5  Symbol and/or name change 5135510 APPROVED
2011-07-27 PMS2P5  postmeiotic segregation increased 2 pseudogene 5  PMS2L5  postmeiotic segregation increased 2-like 5  Symbol and/or name change 5135510 APPROVED