PMS2P5 (PMS1 homolog 2, mismatch repair system component pseudogene 5)

Gene Basic Information

Gene Basic Information

symbol
PMS2P5
locus group
pseudogene
location
7q11.23
gene_family
-
alias symbol
PMS7|MGC34222
alias name
None
entrez id
5383
ensembl gene id
ENSG00000123965
ucsc gene id
-
refseq accession
NR_027775
hgnc_id
HGNC:9130
approved reserved
1997-08-15

Chromosome Location

Chromosome Location

7q11.23

Gene Summary

Gene Summary

PMS2P5（Postmeiotic Segregation Increased 2 Pseudogene 5）是一个假基因，属于PMS2基因家族。PMS2基因家族主要参与DNA错配修复（MMR）过程，对维持基因组稳定性至关重要。PMS2P5本身不编码功能性蛋白，因为它缺乏完整的开放阅读框和启动子区域，是PMS2基因在进化过程中通过复制产生的非功能性拷贝。假基因通常不表达或表达水平极低，但某些情况下可能通过竞争性结合miRNA或转录因子来调节其同源基因的表达。PMS2P5的突变或缺失通常不会直接影响机体功能，因为它本身不具备编码能力。然而，假基因有时可能通过调节其同源基因PMS2的表达来间接影响DNA修复机制。PMS2基因的突变与林奇综合征（遗传性非息肉病性结直肠癌，HNPCC）密切相关，但PMS2P5的异常通常不直接导致疾病。如果PMS2P5过表达，理论上可能通过竞争性抑制PMS2的表达或干扰其调控网络，从而间接影响DNA错配修复效率，增加基因组不稳定性及癌症风险。相反，降低PMS2P5表达可能对机体无明显影响，除非它原本参与某些未知的调控机制。PMS2基因家族的共性在于它们编码的蛋白在DNA修复中起关键作用，尤其是识别和纠正复制错误或损伤导致的碱基错配。PMS2P5作为假基因，虽然不直接参与这一过程，但可能在某些情况下通过调控家族其他成员的功能来间接影响细胞稳态。目前关于PMS2P5的具体生物学功能研究较少，其潜在作用仍需进一步探索。

OMIM entry for PMS2P5     Wikipedia entry for PMS2P5

Gene Sequence

Gene Sequence

Nucleotide sequence of PMS2P5:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MWGRRRKLRR LNDVTISTCH VSAKVGTRLV FDHDGKIIQK
41TPYPHPRGTT VSVKQLFSTL PVRHKEFQRN IKKKRACFPF
81 AFCRDCQFL EGSPAMLPVQ PAKLTPRSTP PHPCSLEDNV
121ITVFSSVKNG PGSSR
Structure predicted by AlphaFold DB(UniProt: A8MQ11). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of PMS2P5:           Showing partial SNPs
rs8338       rs1061917       rs1637338       rs1637339       rs2523288       rs2523289       rs2523290       rs2527265       rs2527271       rs2527272       rs2529281       rs2529282       rs2883363       rs3209662       rs3867768       rs3905492       rs4029862      

Gene Expression

Gene Expression

Tissue expression of PMS2P5:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TTTGTGCACTGAGTGATGTC
59
CCATCGTGATCAAACACCA
58
TTGTGCACTGAGTGATGTC
58
CCATCGTGATCAAACACCA
58
TTTGTGCACTGAGTGATGTC
59
CATCGTGATCAAACACCAGTC
60

Gene Ontology

Subcellular localization of PMS2P5 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for PMS2P5:

GO ID
Protein
Source DB
GO:0003697
A8MQ11 (UniProtKB)
IBA
GO:0006298
A8MQ11 (UniProtKB)
IBA
GO:0016446
A8MQ11 (UniProtKB)
IBA
GO:0016887
A8MQ11 (UniProtKB)
IBA
GO:0032389
A8MQ11 (UniProtKB)
IBA

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