SNRPN (small nuclear ribonucleoprotein polypeptide N)

2003-06-01  

Identity

HGNC
SNRPN
LOCATION
15q11.2
LOCUSID
6638
ALIAS
HCERN3,PWCR,RT-LI,SM-D,SMN,SNRNP-N,SNURF-SNRPN,sm-N
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6638
MIM: 182279
HGNC: 11164
Ensembl: ENSG00000128739

Variants:

dbSNP: 6638
ClinVar: 6638
TCGA: ENSG00000128739
COSMIC: SNRPN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128739ENST00000346403P63162
ENSG00000128739ENST00000346403X5DP00
ENSG00000128739ENST00000390687P63162
ENSG00000128739ENST00000390687X5DP00
ENSG00000128739ENST00000400097P63162
ENSG00000128739ENST00000400097X5DP00
ENSG00000128739ENST00000400100P63162
ENSG00000128739ENST00000400100X5DP00
ENSG00000128739ENST00000554227P63162
ENSG00000128739ENST00000577565P63162
ENSG00000128739ENST00000577565X5DP00
ENSG00000128739ENST00000579070J3QLE5
ENSG00000128739ENST00000584968J3KRY3
ENSG00000128739ENST00000642807P63162
ENSG00000128739ENST00000642807X5DP00
ENSG00000128739ENST00000645002P63162
ENSG00000128739ENST00000645002X5DP00

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

References

Pubmed IDYearTitleCitations
363169682023Novel lncRNA-prader willi/angelman region RNA, SNRPN neighbour (PWARSN) aggravates tubular epithelial cell pyroptosis by regulating TXNIP via dual way in diabetic kidney disease.4
375114332023N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein Polypeptide N Interaction Promotes Axodendritic Branching in Neurons via Dynein-Mediated Microtubule Transport.1
363169682023Novel lncRNA-prader willi/angelman region RNA, SNRPN neighbour (PWARSN) aggravates tubular epithelial cell pyroptosis by regulating TXNIP via dual way in diabetic kidney disease.4
375114332023N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein Polypeptide N Interaction Promotes Axodendritic Branching in Neurons via Dynein-Mediated Microtubule Transport.1
326934312020Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.7
326934312020Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.7
307077432019Imprinting methylation in SNRPN and MEST1 in adult blood predicts cognitive ability.13
307077432019Imprinting methylation in SNRPN and MEST1 in adult blood predicts cognitive ability.13
297088552018Novel Epigenomic Biomarkers of Male Infertility Identified by Methylation Patterns of CpG Sites Within Imprinting Control Regions of H19 and SNRPN Genes.14
301023802018Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs.13
297088552018Novel Epigenomic Biomarkers of Male Infertility Identified by Methylation Patterns of CpG Sites Within Imprinting Control Regions of H19 and SNRPN Genes.14
301023802018Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs.13
283874462017Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population.1
283874462017Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population.1
255719512015Effect of small nuclear ribonucleoprotein-associated polypeptide N on the proliferation of medulloblastoma cells.8

Citation

Dessen P

SNRPN (small nuclear ribonucleoprotein polypeptide N)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42345/img/js/humanGenome