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PMS2P4 PMS1 homolog 2, mismatch repair system component pseudogene 4 [ Homo sapiens (human) ]

Gene ID: 5382, updated on 22-Oct-2024

Summary

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Official Symbol
PMS2P4provided by HGNC
Official Full Name
PMS1 homolog 2, mismatch repair system component pseudogene 4provided by HGNC
Primary source
HGNC:HGNC:9129
See related
Ensembl:ENSG00000291154 AllianceGenome:HGNC:9129
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
PMS6; PMS2L4
Expression
Ubiquitous expression in kidney (RPKM 5.0), thyroid (RPKM 4.0) and 24 other tissues See more
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Genomic context

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See PMS2P4 in Genome Data Viewer
Location:
7q11.21
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (67276131..67302442, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (68495860..68522177, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66741118..66767429, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tRNA-yW synthesizing protein 1 homolog Neighboring gene uncharacterized LOC124901666 Neighboring gene Sharpr-MPRA regulatory region 9636 Neighboring gene MPRA-validated peak6550 silencer Neighboring gene uncharacterized LOC124901665 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:66705704-66706246 Neighboring gene speedy/RINGO cell cycle regulator family member E21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18220 Neighboring gene STAG3 cohesin complex component like 4 (pseudogene) Neighboring gene long intergenic non-protein coding RNA 1372

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 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. Human PMS2 gene family: origin, molecular evolution, and biological implications. Shpakovskii DG, et al. Dokl Biochem Biophys, 2006 May-Jun. PMID 16913423
  2. 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
  3. Genomic organization of the human PMS2 gene family. Nicolaides NC, et al. Genomics, 1995 Nov 20. PMID 8586419
  4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

General gene information

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Markers

Other Names

  • PMS2 pseudogene
  • postmeiotic segregation increased 2 pseudogene 4
  • postmeiotic segregation increased 2-like 4 pseudogene

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_022007.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3'-most exon compared to variant 1.
    Source sequence(s)
    BC029368, DA885243
    Related
    ENST00000828570.1

  2. NR_046297.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    BC029368, BC038841, DA885243
    Related
    ENST00000414507.5

  3. NR_046299.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3'-most exon compared to variant 1.
    Source sequence(s)
    BC029368, CB141754, DA885243

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
    67276131..67302442 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    68495860..68522177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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