NPAS3 (neuronal PAS domain protein 3)

2014-08-01  

Identity

HGNC
NPAS3
LOCATION
14q13.1
LOCUSID
64067
ALIAS
MOP6,PASD6,bHLHe12
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64067
MIM: 609430
HGNC: 19311
Ensembl: ENSG00000151322

Variants:

dbSNP: 64067
ClinVar: 64067
TCGA: ENSG00000151322
COSMIC: NPAS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151322ENST00000346562Q8IXF0
ENSG00000151322ENST00000356141Q8IXF0
ENSG00000151322ENST00000356141X5D2Q4
ENSG00000151322ENST00000357798Q8IXF0
ENSG00000151322ENST00000546849H0YHB6
ENSG00000151322ENST00000547068Q8IXF0
ENSG00000151322ENST00000548645Q8IXF0
ENSG00000151322ENST00000548645X5D988
ENSG00000151322ENST00000551008F8W0C2
ENSG00000151322ENST00000551492F8VR32
ENSG00000151322ENST00000551634F8VS42
ENSG00000151322ENST00000552696H0YHU7
ENSG00000151322ENST00000552874H0YI42

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447199Bipolar DisorderDiseaseLiterature, MultilinkAnnotationassociated24718920

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
127463932003Disruption of the neuronal PAS3 gene in a family affected with schizophrenia.46
185210902009Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study.44
183174622009Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder.37
183174622009Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder.37
181951342008Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosis.30
234087982013The developmental brain gene NPAS3 contains the largest number of accelerated regulatory sequences in the human genome.26
204665222010Association of NPAS3 exonic variation with schizophrenia.18

Citation

Dessen P

NPAS3 (neuronal PAS domain protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54508/npas3