NBPF3 (NBPF member 3)

2016-10-01  

Identity

HGNC
NBPF3
LOCATION
1p36.12
LOCUSID
84224
ALIAS
AE2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84224
MIM: 612992
HGNC: 25076
Ensembl: ENSG00000142794

Variants:

dbSNP: 84224
ClinVar: 84224
TCGA: ENSG00000142794
COSMIC: NBPF3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142794ENST00000318220A0A087WUB7
ENSG00000142794ENST00000318249Q9H094
ENSG00000142794ENST00000342104Q9H094
ENSG00000142794ENST00000434838X6RCV0
ENSG00000142794ENST00000454000Q9H094
ENSG00000142794ENST00000467103A0A087WUY9
ENSG00000142794ENST00000486229A0A087WUB7
ENSG00000142794ENST00000619554Q9H094

Expression (GTEx)

0
5
10
15
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 1
adipose tissue
skin 1
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
296888752018Decreased serum pyridoxal levels in schizophrenia: meta-analysis and Mendelian randomization analysis.16
296888752018Decreased serum pyridoxal levels in schizophrenia: meta-analysis and Mendelian randomization analysis.16
173917232007Insertion of an HERV(K) LTR in the intron of NBPF3 is not required for its transcriptional activity.5
173917232007Insertion of an HERV(K) LTR in the intron of NBPF3 is not required for its transcriptional activity.5

Citation

Dessen P

NBPF3 (NBPF member 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55962/nbpf3-(nbpf-member-3)