SNRPN (small nuclear ribonucleoprotein polypeptide N)

2003-06-01 Affiliation

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000128739	ENST00000346403	P63162
ENSG00000128739	ENST00000346403	X5DP00
ENSG00000128739	ENST00000390687	P63162
ENSG00000128739	ENST00000390687	X5DP00
ENSG00000128739	ENST00000400097	P63162
ENSG00000128739	ENST00000400097	X5DP00
ENSG00000128739	ENST00000400100	P63162
ENSG00000128739	ENST00000400100	X5DP00
ENSG00000128739	ENST00000554227	P63162
ENSG00000128739	ENST00000577565	P63162
ENSG00000128739	ENST00000577565	X5DP00
ENSG00000128739	ENST00000579070	J3QLE5
ENSG00000128739	ENST00000584968	J3KRY3
ENSG00000128739	ENST00000642807	P63162
ENSG00000128739	ENST00000642807	X5DP00
ENSG00000128739	ENST00000645002	P63162
ENSG00000128739	ENST00000645002	X5DP00

Expression (GTEx)

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

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
mRNA Splicing	REACTOME	R-HSA-72172
mRNA Splicing - Major Pathway	REACTOME	R-HSA-72163

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
9590284	1998	A mouse model for Prader-Willi syndrome imprinting-centre mutations.	81
19595458	2010	CpG methylation analysis of the MEG3 and SNRPN imprinted genes in acute myeloid leukemia and myelodysplastic syndromes.	53
7512861	1994	Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.	28
14500540	2003	Methylation imprints of the imprint control region of the SNRPN-gene in human gametes and preimplantation embryos.	20
16116039	2005	Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.	18
21227640	2011	Behavioral phenotype in adults with Prader-Willi syndrome.	18
15105431	2004	Recognition sequences for the GYF domain reveal a possible spliceosomal function of CD2BP2.	14
18361419	2008	Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism.	12
24365028	2014	Methylation pattern of methylene tetrahydrofolate reductase and small nuclear ribonucleoprotein polypeptide N promoters in oligoasthenospermia: a case-control study.	7
21233802	2011	Copy number variations at the Prader-Willi syndrome region on chromosome 15 and associations with obesity in whites.	6

Citation

Dessen P

SNRPN (small nuclear ribonucleoprotein polypeptide N)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42345/snrpn-(small-nuclear-ribonucleoprotein-polypeptide-n)