|
Gene id |
6691 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SPINK2 Gene UCSC Ensembl |
|
Aliases |
HUSI-II, SPGF29 |
|
Gene name |
serine peptidase inhibitor Kazal type 2 |
|
Alternate names |
serine protease inhibitor Kazal-type 2, epididymis tissue protein Li 172, serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor), |
|
Gene location |
4q12 (56822209: 56809859) Exons: 5 NC_000004.12
|
|
Gene summary(Entrez) |
This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with th
|
|
OMIM |
605753 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Celiac disease | GAD: 17333166 |
| Gonad development | INFBASE: 15120973 |
| Formation of sperm acrosome | INFBASE: 32216237 |
| Oligoasthenoteratozoospermia | MIK: 28554943 |
| Spermatogenesis defects | MIK: 32126384 |
| Azoospermia | MIK: 28554943 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Azoospermia | MIK: 28554943 |
| Hypospermatogenesis | MIK: 28361989 |
| Required for normal spermatogenesis and potentially regulates serine protease-mediated apoptosis in male germ cells | MIK: 21705336 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21705336 |
Required f
or normal
spermatoge
nesis and
potentiall
y regulate
s serine p
rotease-me
diated apo
ptosis in
male germ
cells
|
|
|
|
Male infertility |
|
Show abstract |
| 29713536 |
Sperm numb
er defects
|
c.56-3C?>?G (splice) |
|
|
Male infertility |
NGS
|
Show abstract |
| 28554943 |
Azoospermi
a
|
c.56?3C>G |
|
2
|
Male infertility |
NGS
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|