APBA2 (amyloid beta precursor protein binding family A member 2)

2010-03-01  

Identity

HGNC
APBA2
LOCATION
15q13.1
LOCUSID
321
ALIAS
D15S1518E,HsT16821,LIN-10,MGC:14091,MINT2,X11-BETA,X11L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 321
MIM: 602712
HGNC: 579
Ensembl: ENSG00000034053

Variants:

dbSNP: 321
ClinVar: 321
TCGA: ENSG00000034053
COSMIC: APBA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000034053ENST00000411764Q99767
ENSG00000034053ENST00000558206H0YNE8
ENSG00000034053ENST00000558259Q99767
ENSG00000034053ENST00000558330Q99767
ENSG00000034053ENST00000558358H0YMS0
ENSG00000034053ENST00000558402Q99767
ENSG00000034053ENST00000558804H0YNG7
ENSG00000034053ENST00000560283H0YL28
ENSG00000034053ENST00000561069Q99767

Expression (GTEx)

0
50
100
150
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
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

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
191973632009A genome-wide investigation of SNPs and CNVs in schizophrenia.197
179890662008Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.153
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
156990372005RNA interference-mediated silencing of X11alpha and X11beta attenuates amyloid beta-protein levels via differential effects on beta-amyloid precursor protein processing.22
149702112004Facilitation of stress-induced phosphorylation of beta-amyloid precursor protein family members by X11-like/Mint2 protein.20
197449622009X11beta rescues memory and long-term potentiation deficits in Alzheimer's disease APPswe Tg2576 mice.14
200298272009Copy number and sequence variants implicate APBA2 as an autism candidate gene.14
200298272009Copy number and sequence variants implicate APBA2 as an autism candidate gene.14
200160852009Novel mediators of amyloid precursor protein signaling.13

Citation

Dessen P

APBA2 (amyloid beta precursor protein binding family A member 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51371/apba2-(amyloid-beta-precursor-protein-binding-family-a-member-2)