1. Gene
  2. APBB2 - amyloid beta precursor protein binding family B member 2 Gene

APBB2 - amyloid beta precursor protein binding family B member 2 Gene

Homo sapiens

Also known as FE65L; FE65L1

Gene ID: 323 | Gene type: protein coding

About APBB2

Cytogenetic location: 4p14-p13 Genomic coordinates (GRCh38): 4:40,810,027-41,214,542 (from NCBI)

This gene has 30 transcripts (splice variants), 285 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 13.0), thyroid (RPKM 11.7) and 24 other tissues.

Summary

The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

APBB2 Products(9)

mRNA Protein Name
NM_001166050.2 NP_001159522.1 amyloid beta precursor protein binding family B member 2 isoform b
NM_001166051.2 NP_001159523.1 amyloid beta precursor protein binding family B member 2 isoform d
NM_001166052.2 NP_001159524.1 amyloid beta precursor protein binding family B member 2 isoform d
NM_001166053.1 NP_001159525.1 amyloid beta precursor protein binding family B member 2 isoform d
NM_001166054.1 NP_001159526.1 amyloid beta precursor protein binding family B member 2 isoform d
NM_001330656.2 NP_001317585.1 amyloid beta precursor protein binding family B member 2 isoform e
NM_001330658.2 NP_001317587.1 amyloid beta precursor protein binding family B member 2 isoform e
NM_004307.2 NP_004298.1 amyloid beta precursor protein binding family B member 2 isoform a
NM_173075.5 NP_775098.2 amyloid beta precursor protein binding family B member 2 isoform c

APBB2 Protein Structure

WW

WW: WW domain (292 - 320)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (419 - 554)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (590 - 711)

  • 0
  • 200
  • 400
  • 600
  • 758 a.a.
Protein Preferred Names Protein Names

amyloid beta precursor protein binding family B member 2

Fe65-like 1

Related Diseases

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Bos taurus APBB2 VGNC VGNC:26005
Felis catus APBB2 VGNC VGNC:67737
Mus musculus APBB2 MGD MGI:108405
Canis familiaris APBB2 VGNC VGNC:37979
Macaca mulatta APBB2 VGNC VGNC:69980
Rattus norvegicus APBB2 RGD RGD:1562438