NPAP1 (nuclear pore associated protein 1)

2014-11-01 Affiliation

Identity

HGNC

NPAP1

LOCATION

15q11.2

LOCUSID

23742

ALIAS

C15orf2

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: 23742
MIM: 610922
HGNC: 1190
Ensembl: ENSG00000185823

Variants:

dbSNP: 23742
ClinVar: 23742
TCGA: ENSG00000185823
COSMIC: NPAP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000185823	ENST00000329468	Q9NZP6

Expression (GTEx)

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19843651	2010	Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.	139
17337158	2007	C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.	17
22694955	2012	The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.	11
20020165	2010	The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.	8
24482533	2014	The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.	6

Citation

Dessen P

NPAP1 (nuclear pore associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70912/npap1