APBA2 - amyloid beta precursor protein binding family A member 2 Gene

Homo sapiens

Also known as X11L; MINT2; LIN-10; HsT16821; X11-BETA; D15S1518E; MGC:14091

Gene ID: 321 | Gene type: protein coding

About APBA2

Cytogenetic location: 15q13.1 Genomic coordinates (GRCh38): 15:28,885,974-29,118,315 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 267 orthologues and 4 paralogues. Biased expression in brain (RPKM 16.8), spleen (RPKM 2.5) and 4 other tissues.

Summary

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]

APBA2 Products(13)

mRNA	Protein	Name
NM_001130414.1	NP_001123886.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform b
NM_001353788.2	NP_001340717.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_001353789.2	NP_001340718.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_001353790.2	NP_001340719.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_001353791.2	NP_001340720.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_001353792.2	NP_001340721.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform b
NM_001353793.2	NP_001340722.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform b
NM_001353794.2	NP_001340723.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform b
NM_001353795.2	NP_001340724.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform c
NM_001353796.2	NP_001340725.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform d
NM_001353797.2	NP_001340726.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform e
NM_001379685.1	NP_001366614.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_005503.3	NP_005494.2	amyloid-beta A4 precursor protein-binding family A member 2 isoform a

APBA2 Protein Structure

PID

PDZ

0
200
400
600
749 a.a.

Protein Preferred Names

Protein Names

amyloid-beta A4 precursor protein-binding family A member 2

X11-like protein

Related Diseases

Diseases

Alias

Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome	15q13.3 Microdeletion Syndrome
15q13.3 Microdeletion	Microdeletion 15q13.3 Syndrome
Del(15)(Q13.3)	Monosomy 15q13.3

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00803	APBA2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	APBA2	RGD	RGD:620845
Felis catus	APBA2	VGNC	VGNC:67734
Macaca mulatta	APBA2	VGNC	VGNC:69977
Bos taurus	APBA2	VGNC	VGNC:26001
Canis familiaris	APBA2	VGNC	VGNC:37975
Mus musculus	APBA2	MGD	MGI:1261791

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