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

Gene ID: 5379, updated on 2-May-2024

Summary

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
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Genomic context

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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
Component Evidence Code Pubs
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_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.