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PMS2P5 PMS1 homolog 2, mismatch repair system component pseudogene 5 [ Homo sapiens (human) ]

Gene ID: 5383, updated on 22-May-2022

Summary

Official Symbol
PMS2P5provided by HGNC
Official Full Name
PMS1 homolog 2, mismatch repair system component pseudogene 5provided by HGNC
Primary source
HGNC:HGNC:9130
See related
AllianceGenome:HGNC:9130
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
PMS7; PMS2L5
Summary
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 testis (RPKM 6.5), skin (RPKM 3.8) and 24 other tissues See more
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Genomic context

See PMS2P5 in Genome Data Viewer
Location:
7q11.23
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74890768..74921138)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76093073..76123445)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74306887..74336166)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene GTF2I repeat domain containing 2 Neighboring gene uncharacterized LOC124901673 Neighboring gene stromal antigen 3-like 2 (pseudogene) Neighboring gene speedy/RINGO cell cycle regulator family member E12 Neighboring gene uncharacterized LOC105375352 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene RCC1 like

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 5
  • postmeiotic segregation increased 2-like 5

Clone Names

  • MGC34222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATP-dependent DNA damage sensor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in somatic hypermutation of immunoglobulin genes IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of MutLalpha complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of mismatch repair complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_027775.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AC211424
  2. NR_027776.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon, resulting in a shorter transcript, compared to variant 1.
    Source sequence(s)
    AC211424
  3. NR_027777.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks three internal exons and includes an alternate 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
    Source sequence(s)
    AC211424

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    74890768..74921138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    76093073..76123445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_174930.3: Suppressed sequence

    Description
    NM_174930.3: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.