|
Gene id |
5395 |
| Gene Summary SNPs Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PMS2 Gene UCSC Ensembl |
|
Aliases |
HNPCC4, MLH4, PMS2CL, PMSL2 |
|
Gene name |
PMS1 homolog 2, mismatch repair system component |
|
Alternate names |
mismatch repair endonuclease PMS2, DNA mismatch repair protein PMS2, PMS1 homolog 2, mismatch repair protein, PMS1 protein homolog 2, PMS2 postmeiotic segregation increased 2, postmeiotic segregation increased 2 nirs variant 6, |
|
Gene location |
7p22.1 (6009105: 5970924) Exons: 16 NC_000007.14
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodime
|
|
OMIM |
600259 |
SNPs |
rs11769380
Strand: Allele origin: Allele change: Mutation type: snv
NC_000007.14 g.6002891C>T
NC_000007.13 g.6042522C>T
NG_008466.1 g.11216G>A|SEQ=[C/T]|GENE=PMS2
rs1059060
Strand: Allele origin: Allele change: Mutation type: snv
NC_000007.14 g.5977709T>A
NC_000007.14 g.5977709T>C
NC_000007.13 g.6017340T>A
NC_000007.13 g.6017340T>C
NG_008466.1 g.36398A>T
NG_008466.1 g.36398A>G
NM_000535.7 c.2324A>T
NM_000535.7 c.2324A>G
NM_000535.6 c.2324A>T
NM_000535.6 c.2324A>G
NM_000535.5
|
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
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| Associated diseases |
References |
| Cancer (colorectal) | GAD: 16116158 |
| Cancer (endometrial) | GAD: 16885385 |
| Cancer (epithelial ovarian) | GAD: 19064572 |
| Cancer (esophageal) | GAD: 20453000 |
| Cancer (lung) | GAD: 18676680 |
| Cancer (ovarian) | GAD: 16774946 |
| Cancer (breast) | GAD: 20496165 |
| Cancer | GAD: 19730683 |
| Cancer (bladder) | GAD: 19237606 |
| Cancer (prostate) | GAD: 20056646 |
| Cancer (thyroid) | GAD: 19730683 |
| Chronic renal failure | GAD: 21085059 |
| Endometriosis | INFBASE: 24018808 |
| Sperm DNA damage | MIK: 22594646 |
| Maturation arrest | MIK: 22344730 |
| Impaired human spermatogenesis | MIK: 20075417 |
| Impaired human spermatogenesis | MIK: 20075417 |
| Male factor infertility | MIK: 22594646 |
| Oligozoospermia | MIK: 22594646 |
| Azoospermia | MIK: 22594646 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19625176 |
| Mismatch repair deficiency | KEGG: H00876 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Associated with spermatogenesis and epigenetic regulation | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 20075417 |
| Maturation arrest | MIK: 22344730 |
| Male infertility | MIK: 22594646 |
| Azoospermia | MIK: 22594646 |
| Oligozoospermia | MIK: 22594646 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 22594646 |
Sperm DNA
damage, Ma
le inferti
lity, azoo
spermia, o
ligozoospe
rmia
|
MLH1 (rs4647269), PMS2 (rs1059060, Ser775Asn), MSH5 (rs2075789, Pro29Ser) |
Chinese
|
1772 (1,292 idi
opathic inferti
lity patients,
480 fertile con
trols)
|
Male infertility |
MLH1
MLH3
PMS2
MSH4 and MSH5
|
Show abstract |
| 20075417 |
Impaired h
uman sperm
atogenesis
|
|
|
28 (13 patients
with spermatog
enic failure, 5
patients with
primary germ ce
ll tumors, 10 c
ontrols with co
nserved spermat
ogenesis)
|
Male infertility |
MLH1
MLH3
PMS2
MSH4
and MSH5
ATR
HSPA2
and SYCP3
|
Show abstract |
| 22344730 |
Maturation
arrest
|
2531C/T-IVS9 + 66G/A |
|
|
Male infertility |
MLH1
MLH3
PMS2
|
Show abstract |
| 21674046 |
Associated
with sper
matogenesi
s and epig
enetic reg
ulation
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|