PMS2CLGene Detail-Gene Database-Genelibs

PMS2CL (PMS2 C-terminal like pseudogene)

symbol

PMS2CL

locus group

pseudogene

location

7p22.1

gene_family

-

alias symbol

PMS2P13

alias name

PMS1 homolog 2, mismatch repair sy…

entrez id

441194

ensembl gene id

ENSG00000187953

ucsc gene id

-

refseq accession

NR_002217

hgnc_id

HGNC:30061

approved reserved

2007-11-27

7p22.1

PMS2CL（PMS2 C-terminal like）是一个假基因，属于错配修复（MMR）基因家族，与著名的错配修复基因PMS2高度同源。PMS2CL位于7号染色体上，与PMS2基因的C端区域相似，但由于缺乏启动子和关键外显子，它不编码功能性蛋白。错配修复基因家族的主要功能是识别和修复DNA复制过程中产生的碱基错配和小插入/缺失错误，维持基因组稳定性。PMS2CL虽然不直接参与DNA修复，但可能通过基因转换或同源重组影响PMS2的功能。PMS2CL的突变或缺失通常不会直接影响机体，因为它本身没有编码功能，但如果它与PMS2发生异常重组，可能导致PMS2功能丧失，从而增加基因组不稳定性。PMS2的功能缺陷与林奇综合征（遗传性非息肉病性结直肠癌，HNPCC）密切相关，患者患结直肠癌、子宫内膜癌等恶性肿瘤的风险显著增加。PMS2CL的过表达或降低表达对机体的直接影响尚不明确，但理论上，如果它干扰PMS2的正常表达或功能，可能间接影响错配修复系统的效率，导致突变积累和癌症风险上升。PMS2CL的存在提示了基因复制和假基因演化的复杂性，尽管它不直接参与生理功能，但可能通过与其他基因的相互作用间接影响基因组稳定性。研究PMS2CL有助于理解假基因在基因组进化中的作用以及它与功能基因的潜在交互机制。

OMIM entry for PMS2CL Wikipedia entry for PMS2CL

Nucleotide sequence of PMS2CL:[NCBI]

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Protein Sequence

1MHAADLEKPM VEKQDQSPSL RTGEEKRDVS ISRLREAFSL
41RHTTENKPHS PKTPEPRRSP LGQKRGMSSS STSDAISDRG
81
VLRPQKEAV SSSQGPSDPT DRAEVEKDSG HGSTSVDSEG
121FSIPDTGSHC SSECVASTPG DRGSQEHVDS QEKAPETDDS
161F
SDVDCHSN QEDTGCKFQV LPQPTNLTSP NTKVF

Structure predicted by AlphaFold DB(UniProt: Q68D20). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

SNP variants of PMS2CL: Showing partial SNPs

rs1060833 rs1060834 rs2462651 rs2462654 rs2533069 rs2533072 rs2692543 rs2692545 rs2692552 rs2692556 rs2692559 rs2711199 rs4724766 rs6973575 rs7779296 rs7784521 rs7786232

Tissue expression of PMS2CL: [UniProt]

Forward Primer

Forward Tm

Reverse Primer

Reverse Tm

Score

TTGGTGAGGTGGACAAGAG

59

CTTGGAAACGTGCAGAGAC

59

CGGACGAGAAGTATAACTTCG

58

GTTGAGAGTCTGAGGTGCT

59

TTGGTGAGGTGGACAAGAG

59

GAAACGTGCAGAGACTGTG

59

CGGACGAGAAGTATAACTTCGA

59

GTTGAGAGTCTGAGGTGCT

59

TTGGTGAGGTGGACAAGAG

59

GAGACTGTGGCTGGTAGAC

59

GGACGAGAAGTATAACTTCGAG

58

GTTGAGAGTCTGAGGTGCT

59

Subcellular localization of PMS2CL (and its protein):

[UniProt] [GenomeNet]

plasma membrane
cytoplasm
extracellular
golgi
vesicle
cytoskeleton
endoplasmic reticulum
nucleus
endosome
lysosome
mitochondrion

Gene Ontology (GO) terms for PMS2CL:

GO ID

Protein

Source DB

GO:0006298

Q68D20 (UniProtKB)

IEA

GO:0032300

Q68D20 (UniProtKB)

IEA

Disease

Score

NofPmids

NofSnps

Source

Disease	Score	NofPmids	NofSnps	Source
Hereditary Nonpolyposis Colorectal Cancer	0.000271442	1	0	BeFree
Rectal Carcinoma	0.000271442	1	0	BeFree

PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.

Bouras A, Lefol C, Ruano E, Grand-Masson C, Wang Q Genes Chromosomes Cancer IF: 2.3 2024-00-00

Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data.

Munté E, Feliubadaló L, Del Valle J, González S, Ramos-Muntada M, Balmaña J, Ramon Y Cajal T, Tuset N, Llort G, Cadiñanos J, Brunet J, Capellá G, Lázaro C, Pineda M J Mol Diagn IF: 3.9 2024-08-00

Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.

Segura AVC, da Silva SIO, Santiago KM, Brianese RC, Carraro DM, Torrezan GT Fam Cancer IF: 2.1 2024-11-00

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

Paixão D, Lima THA, de Souza RRF, Carnavalli JEP, Picanço-Albuquerque CG, Silva-Fernandes IJL, de Barros Silva PG, Mitne-Neto M, Moreira CM, Baratela WADR Front Oncol IF: 3.4 2024-00-00

Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data.

Mistry NA, Roellinger SE, Manninen MC, Gandham M, Koganti T, Balan J, Basu S, Blake EJ, Tandale PP, Holdren MA, Hoenig MF, Urban RM, Veith RL, Kendzior MC, Wang C, Gupta S, Shen W J Mol Diagn IF: 3.9 2024-09-00

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.

Cappadocia J, Aiello LB, Kelley MJ, Katona BW, Maxwell KN, Penn Medicine BioBank, Regeneron Genetics Center Genet Med Open 2024-00-00

Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.

Gervas P, Molokov A, Babyshkina N, Kiselev A, Zarubin A, Yumov E, Pisareva L, Choynzonov E, Cherdyntseva N Asian Pac J Cancer Prev 2022-06-01

New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.

Gervas P, Molokov A, Ivanova A, Panferova Y, Kiselev A, Chernyshova A, Pisareva L, Choynzonov E, Cherdyntseva N Exp Oncol 2021-00-00

PB-Motif-A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping.

Stephens Z, Milosevic D, Kipp B, Grebe S, Iyer RK, Kocher JA Front Genet IF: 2.8 2021-00-00

Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL.

Chong AS, Chong G, Foulkes WD, Saskin A Hum Mutat IF: 1.8 2020-00-00

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