U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PMS2P1 PMS1 homolog 2, mismatch repair system component pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 5379, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
PMS2P1provided by HGNC
Official Full Name
PMS1 homolog 2, mismatch repair system component pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:9123
See related
MIM:605038; AllianceGenome:HGNC:9123
Gene type
pseudo
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PMS3; PMS8; PMSR1; PMSR2; PMS2L1; PMS2L6; PMS2L7; PMS2L8; PMS2L13
Summary
Predicted to enable kinase activity. Predicted to be involved in mismatch repair and somatic hypermutation of immunoglobulin genes. Predicted to be part of MutLalpha complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 11.1), testis (RPKM 10.2) and 25 other tissues See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See PMS2P1 in Genome Data Viewer
Location:
7q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100320640..100336307, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101560726..101576392, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99918263..99933930, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene STAG3 cohesin complex component Neighboring gene CASTOR family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26352 Neighboring gene PVR related immunoglobulin domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99844389-99845186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99845985-99846781 Neighboring gene uncharacterized LOC105375426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99866902-99867424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99867949-99868470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18429 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99886514-99886677 Neighboring gene STAG3L5P-PVRIG2P-PILRB readthrough Neighboring gene speedy/RINGO cell cycle regulator family member E3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:99932790-99933668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26355 Neighboring gene STAG3 cohesin complex component like 5, pseudogene Neighboring gene PVR related immunoglobulin domain containing 2, pseudogene Neighboring gene microRNA 6840

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. De Vos M, et al. Am J Hum Genet, 2004 May. PMID 15077197, Free PMC Article
  2. The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair protein. Kondo E, et al. J Biochem, 1999 Apr. PMID 10101297
  3. 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
  4. Genomic organization of the human PMS2 gene family. Nicolaides NC, et al. Genomics, 1995 Nov 20. PMID 8586419
  5. USP40 deubiquitinates HINT1 and stabilizes p53 in podocyte damage. Takahashi S, et al. Biochem Biophys Res Commun, 2022 Jul 23. PMID 35605301

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Other Names

  • postmeiotic segregation increased 2 pseudogene 1
  • postmeiotic segregation increased 2-like 1 pseudogene
  • postmeiotic segregation increased 2-like 5
  • postmeiotic segregation increased 2-like 6
  • postmeiotic segregation increased 2-like 7
  • postmeiotic segregation increased 2-like 8

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 kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in mismatch repair IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_003613.1 RNA Sequence

    Status: PROVISIONAL

    Source sequence(s)
    AB017004, DA706474

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    100320640..100336307 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101560726..101576392 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_005394.1: Suppressed sequence

    Description
    NM_005394.1: 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
A4D2B8.1 GenPept UniProtKB/Swiss-Prot:A4D2B8

Gene LinkOut

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