NPAP1 (nuclear pore associated protein 1)

2014-11-01  

Identity

HGNC
NPAP1
LOCATION
15q11.2
LOCUSID
23742
ALIAS
C15orf2

Other Information

Locus ID:

NCBI: 23742
MIM: 610922
HGNC: 1190
Ensembl: ENSG00000185823

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185823ENST00000329468Q9NZP6

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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
N/A

References

Pubmed IDYearTitleCitations
244825332014The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.10
244825332014The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.10
226949552012The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.17
226949552012The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.17
198436512010Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.175
200201652010The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.10
198436512010Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.175
200201652010The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.10
173371582007C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.23
173371582007C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.23

Citation

Dessen P

NPAP1 (nuclear pore associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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