N4BP2L2 (NEDD4 binding protein 2 like 2)

2016-10-01  

Identity

HGNC
N4BP2L2
LOCATION
13q13.1
LOCUSID
10443
ALIAS
92M18.3,CG005,CG016,PFAAP5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10443
MIM: 615788
HGNC: 26916
Ensembl: ENSG00000244754

Variants:

dbSNP: 10443
ClinVar: 10443
TCGA: ENSG00000244754
COSMIC: N4BP2L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000244754ENST00000267068Q92802
ENSG00000244754ENST00000267068A0A024RDV2
ENSG00000244754ENST00000357505B4DPY1
ENSG00000244754ENST00000399396Q92802
ENSG00000244754ENST00000446957Q92802
ENSG00000244754ENST00000504114B4DPY1
ENSG00000244754ENST00000505213D6R968
ENSG00000244754ENST00000674349A0A024RDV2
ENSG00000244754ENST00000674421A0A024RDV2
ENSG00000244754ENST00000674465A0A024RDV2
ENSG00000244754ENST00000674484A0A024RDV2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
195060202009Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase.13
195060202009Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase.13

Citation

Dessen P

N4BP2L2 (NEDD4 binding protein 2 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56270/n4bp2l2-(nedd4-binding-protein-2-like-2)