AP3B2 (adaptor related protein complex 3 subunit beta 2)

2014-11-01  

Identity

HGNC
AP3B2
LOCATION
15q25.2
LOCUSID
8120
ALIAS
DEE48,EIEE48,NAPTB

Other Information

Locus ID:

NCBI: 8120
MIM: 602166
HGNC: 567
Ensembl: ENSG00000103723

Variants:

dbSNP: 8120
ClinVar: 8120
TCGA: ENSG00000103723
COSMIC: AP3B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103723ENST00000535348Q13367
ENSG00000103723ENST00000535359Q13367
ENSG00000103723ENST00000535513A0A590UJ44
ENSG00000103723ENST00000541693F5GWU4
ENSG00000103723ENST00000542200F5GYB0
ENSG00000103723ENST00000620652Q13367
ENSG00000103723ENST00000642989A0A2R8Y2A8
ENSG00000103723ENST00000652847A0A590UKC4
ENSG00000103723ENST00000657321A0A590UK69
ENSG00000103723ENST00000660624A0A590UJE5
ENSG00000103723ENST00000661532A0A590UJU7
ENSG00000103723ENST00000664460A0A590UKD3
ENSG00000103723ENST00000665513A0A590UK64
ENSG00000103723ENST00000666055A0A590UJW5
ENSG00000103723ENST00000666894A0A590UK30
ENSG00000103723ENST00000666973A0A590UJ60
ENSG00000103723ENST00000667758A0A590UJ88
ENSG00000103723ENST00000668385A0A590UJS5
ENSG00000103723ENST00000668458A0A590UJU0
ENSG00000103723ENST00000668990Q13367
ENSG00000103723ENST00000669930A0A590UK04

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

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
355085982022Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome.0
363564402022Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.0
355085982022Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome.0
363564402022Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.0
340422752021Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.2
340422752021Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.2
313715642019Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG.15
313715642019Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG.15
278890602016Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.21
278890602016Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.21
266436022015Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis.8
266436022015Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis.8
194811222009Association analysis between schizophrenia and the AP-3 complex genes.8
194811222009Association analysis between schizophrenia and the AP-3 complex genes.8
174539992007Characterization of AP3B2_v2, a novel splice variant of human AP3B2.0

Citation

Dessen P

AP3B2 (adaptor related protein complex 3 subunit beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60403/ap3b2-(adaptor-related-protein-complex-3-subunit-beta-2)