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Gene id |
57119 |
| Gene Summary SNPs Protein Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
EPPIN Gene UCSC Ensembl |
|
Aliases |
CT71, CT72, SPINLW1, WAP7, WFDC7, dJ461P17.2 |
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Gene name |
epididymal peptidase inhibitor |
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Alternate names |
eppin, WAP four-disulfide core domain protein 7, cancer/testis antigen 71, cancer/testis antigen 72, epididymal protease inhibitor, protease inhibitor WAP7, serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin), |
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Gene location |
20q13.12 (45547425: 45540625) Exons: 4 NC_000020.11
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Gene summary(Entrez) |
This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telo
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|
OMIM |
609031 |
SNPs |
rs6124715
Strand: Allele origin: Allele change: Mutation type: snv
NC_000020.11 g.45548848C>G
NC_000020.11 g.45548848C>T
NC_000020.10 g.44177487C>G
NC_000020.10 g.44177487C>T|SEQ=[C/G/T]|GENE=EPPIN
EPPIN-WFDC6 100526773
rs2227290
Strand: Allele origin: Allele change: Mutation type: snv
NC_000020.11 g.45547503G>C
NC_000020.11 g.45547503G>T
NC_000020.10 g.44176142G>C
NC_000020.10 g.44176142G>T|SEQ=[G/C/T]|GENE=EPPIN
EPPIN-WFDC6 100526773
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Protein Summary
|
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| Associated diseases |
References |
| Semen coagulation, liquefaction and the survival and preparation of spermatozoa for fertility | MIK: 24358212 |
| Semen quality | MIK: 20158997 |
| Azoospermia | MIK: 20800364 |
| Male factor infertility | MIK: 20158997 |
| Obstructive azoospermia | MIK: 21951200 |
| Male factor infertility | MIK: 20488803 |
| Non obstructive azoospermia | MIK: 21951200 |
| Azoospermia | MIK: 17928628 |
| Azoospermia | MIK: 17928628 |
| Idiopathic male infertility | MIK: 25619219 |
| Obstructive azoospermia (OA) | MIK: 21951200 |
| Non-obstructive azoospermia (NOA) | MIK: 21951200 |
| Semen coagulation, liquefaction and the survival and preparation of spermatozoa for fertility | MIK: 24358212 |
| Semen quality | MIK: 20158997 |
| Teratozoospermia | MIK: 17327269 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24358212 |
Semen coag
ulation, l
iquefactio
n and the
survival a
nd prepara
tion of sp
ermatozoa
for fertil
ity
|
|
|
|
Male infertility |
Eppin
Fn
|
Show abstract |
| 17928628 |
Azoospermi
a
|
|
|
|
Male infertility |
CRISP1
SPINLW1
FAM12B
DEFB129
CFTR
AQP5
KCNK4
KCNK17
SLC6A20
SLC13A3
DEFB126
and DEFB106A
|
Show abstract |
| 25619219 |
Idiopathic
male infe
rtility
|
Eppin(rs6124715, rs2231829, rs2227290 and rs11594) |
|
671 (473 confir
med infertile p
atients, 198 fe
rtile male cont
rols)
|
Male infertility |
|
Show abstract |
| 20158997 |
Semen qual
ity
|
rs11594, rs2231829, rs6124715 |
|
473 males with
definite idiopa
thic infertilit
y
|
Male infertility |
Eppin
|
Show abstract |
| 21951200 |
Obstructiv
e azoosper
mia (OA),
non-obstru
ctive azoo
spermia (N
OA)
|
|
|
86 (40 normal m
en, 46 azoosper
mic patients)
|
Male infertility |
Eppin
|
Show abstract |
| 20800364 |
Azoospermi
a
|
|
|
|
Male infertility |
Eppin
|
Show abstract |
| 17327269 |
Teratozoos
permia
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|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|