PMS2CL PMS2 C-terminal like (pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: PMS2CLprovided by HGNC
Official Full Name: PMS2 C-terminal like (pseudogene)provided by HGNC
Primary source: HGNC:HGNC:30061
See related: Ensembl:ENSG00000187953 AllianceGenome:HGNC:30061
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: PMS2P13
Expression: Ubiquitous expression in testis (RPKM 8.4), brain (RPKM 7.3) and 25 other tissues See more
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Genomic context

Location:: 7p22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (6735305..6751601)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (6854400..6870733)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (6774936..6791232)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
Title: PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL.
Title: Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

PMS2 (e-PCR), detects polymorphism
- UniSTS:11546

D7S2083E (e-PCR)
- UniSTS:57146

G67276 (e-PCR)
- UniSTS:186455

G67273 (e-PCR)
- UniSTS:186456

G67274 (e-PCR)
- UniSTS:186457

G67275 (e-PCR)
- UniSTS:186458

PMS2 (e-PCR), detects polymorphism
- UniSTS:22714

SHGC-55948 (e-PCR)
- UniSTS:15808

Other Names

PMS1 homolog 2, mismatch repair system component pseudogene 13
postmeiotic segregation increased 2 pseudogene 13

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.