The APBB2 gene homepage

General information
Gene symbol APBB2
Gene name amyloid beta (A4) precursor protein-binding, family B, member 2
Chromosome 4
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_013337.1
Transcript reference NM_001166050.1, NM_001166051.1, NM_001166052.1, NM_001166053.1, NM_001166054.1, NM_004307.1, NM_173075.4, XM_005248101.1
Associated with diseases AD
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 162
Unique public DNA variants reported 21
Individuals with public variants 35
Hidden variants 261
Date created November 30, -0001
Date last updated September 28, 2016
Version APBB2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:582
Entrez Gene 323
PubMed articles APBB2
OMIM - Gene 602710
OMIM - Diseases AD (Alzheimer disease (AD))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010038 4 transcript variant 1 NM_004307.1 NP_004298.1 162
00010037 4 transcript variant 2 NM_001166050.1 NP_001159522.1 158
00010036 4 transcript variant 3 NM_173075.4 NP_775098.2 157
00010039 4 transcript variant 7 NM_001166054.1 NP_001159526.1 70
00010040 4 transcript variant 6 NM_001166053.1 NP_001159525.1 70
00010041 4 transcript variant 5 NM_001166052.1 NP_001159524.1 70
00010042 4 transcript variant 4 NM_001166051.1 NP_001159523.1 70
00044147 4 transcript variant X8 XM_005248101.1 XP_005248158.1 -