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PMS2P3 PMS1 homolog 2, mismatch repair system component pseudogene 3 [ Homo sapiens (human) ]

Gene ID: 5387, updated on 2-Nov-2024

Summary

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Official Symbol
PMS2P3provided by HGNC
Official Full Name
PMS1 homolog 2, mismatch repair system component pseudogene 3provided by HGNC
Primary source
HGNC:HGNC:9128
See related
Ensembl:ENSG00000291092 AllianceGenome:HGNC:9128
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PMS5; PMSR3; PMS2L3; PMS2L9
Summary
Predicted to enable ATP hydrolysis activity and ATP-dependent DNA damage sensor activity. Predicted to be involved in mismatch repair and regulation of DNA-templated transcription. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in spleen (RPKM 4.3), testis (RPKM 4.0) and 25 other tissues See more
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Genomic context

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See PMS2P3 in Genome Data Viewer
Location:
7q11.23
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75507747..75528123, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76795078..76815462, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75137069..75157453, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NSUN5 pseudogene 1 Neighboring gene 7q11.23 proximal recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18294 Neighboring gene POM121 transmembrane nucleoporin C Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75083199-75083700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75115301-75115800 Neighboring gene speedy/RINGO cell cycle regulator family member E5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18297 Neighboring gene Sharpr-MPRA regulatory region 5953 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75160518-75161214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26178 Neighboring gene huntingtin interacting protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75224249-75225196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75232242-75233192 Neighboring gene MPRA-validated peak6604 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75240777-75241350 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75246639-75247140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75252505-75253458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75253459-75254412 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75260462-75260962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18298 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75268875-75269629 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75269630-75270383 Neighboring gene Sharpr-MPRA regulatory region 13243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75359065-75359566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18299 Neighboring gene Sharpr-MPRA regulatory region 12151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26181 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:75407745-75408312 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:75408313-75408880 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75409977-75410145 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:75416862-75417721 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:75417722-75418580 Neighboring gene C-C motif chemokine ligand 26

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. Horii A, et al. Biochem Biophys Res Commun, 1994 Nov 15. PMID 7980603
  2. Genomic organization of the human PMS2 gene family. Nicolaides NC, et al. Genomics, 1995 Nov 20. PMID 8586419
  3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. Zhang X, et al. Carcinogenesis, 2010 Dec. PMID 20819778, Free PMC Article
  4. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Other Names

  • postmeiotic segregation increased 2 pseudogene 3
  • postmeiotic segregation increased 2-like 3, pseudogene
  • postmeiotic segregation increased 2-like 9

Clone Names

  • MGC126647

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent DNA damage sensor activity IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in mismatch repair IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
part_of mismatch repair complex IEA
Inferred from Electronic Annotation
more info
  

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_028059.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC211429, BC007683
    Related
    ENST00000845735.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    75507747..75528123 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    76795078..76815462 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001003686.1: Suppressed sequence

    Description
    NM_001003686.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

  2. NM_005395.2: Suppressed sequence

    Description
    NM_005395.2: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13401.2 GenPept UniProtKB/Swiss-Prot:Q13401

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials