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
374803052023SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY.0
374803052023SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY.0
360448582022Npas3 deficiency impairs cortical astrogenesis and induces autistic-like behaviors.3
360448582022Npas3 deficiency impairs cortical astrogenesis and induces autistic-like behaviors.3
337582882021Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.3
337582882021Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.3
305091652018Molecular analysis of NPAS3 functional domains and variants.8
305091652018Molecular analysis of NPAS3 functional domains and variants.8
284994892017Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes.17
284994892017Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes.17
277828782016NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS family as multi-ligand binding transcription factors.39
277828782016NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS family as multi-ligand binding transcription factors.39
259829572015Cumulative role of rare and common putative functional genetic variants at NPAS3 in schizophrenia susceptibility.3
259829572015Cumulative role of rare and common putative functional genetic variants at NPAS3 in schizophrenia susceptibility.3
233379482014A mutation in NPAS3 segregates with mental illness in a small family.16

Citation

Dessen P

NPAS3 (neuronal PAS domain protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

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