|
Gene id |
6638 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SNRPN Gene UCSC Ensembl |
|
Aliases |
HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N |
|
Gene name |
small nuclear ribonucleoprotein polypeptide N |
|
Alternate names |
small nuclear ribonucleoprotein-associated protein N, SM protein N, sm protein D, tissue-specific splicing protein, |
|
Gene location |
15q11.2 (24823607: 24978722) Exons: 20 NC_000015.10
|
|
Gene summary(Entrez) |
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing a
|
|
OMIM |
182279 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Autism | GAD: 18361419 |
| Prader-Willi syndrome | KEGG: H00478 |
| Oligoasthenozoospermia | MIK: 24365028 |
| Male factor infertility | MIK: 19880108 |
| Oligozoospermia | MIK: 19880108 |
| Pulmonary function | GAD: 17903307 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Low sperm motility | MIK: 21674046 |
| Male factor infertility | MIK: 19880108 |
| Spermatogenic defects | MIK: 29708855 |
| Oligoasthenospermia | MIK: 24365028 |
| Oligozoospermia | MIK: 19880108 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19880108 |
Male facto
r infertil
ity
|
|
|
25 (10 oligozoo
spermic, 10 abn
ormal protamine
replacement pa
tients, 5 known
fertile donors
)
|
Male infertility |
LIT1
MEST
SNRPN
PLAGL1
PEG3
H19
and IGF2
|
Show abstract |
| 24365028 |
Oligoasthe
nospermia
|
|
Romania
n
|
38 (27 spermato
genic defects,
11 controls)
|
Male infertility |
MTHFR
SNRPN
|
Show abstract |
| 19880108 |
Oligozoosp
ermic
|
|
|
|
Male infertility |
LIT1
MEST
SNRPN
PLAGL1
PEG3
H19
and IGF2
|
Show abstract |
| 29708855 |
Multiple s
perm defec
ts, Male i
nfertility
|
|
Han Chi
nese
|
125 (39 oligoas
thenozoospermia
(OA) patients,
36 asthenotera
tozoospermia (A
T) patients, an
d 50 normozoosp
ermia (N) contr
ols)
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Low sperm
motility
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
|