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

Also Known as FE65L; FE65L1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 323

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
8855266 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of cell cycle phase transition IDA
IDA: Inferred from direct assay
12089154 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12089154 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
14527950 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
14527950 GOA
located in early endosome IDA
IDA: Inferred from direct assay
14527950 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
14527950 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12089154 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

APBB2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
APBB2 Q92870 EGFR Homo sapiens P00533 16273093
Intra
APBB2 Q92870 APP Homo sapiens P05067 33961781
Intra
APBB2 Q92870 APP Homo sapiens P05067 8855266
Intra
APBB2 Q92870 APP Homo sapiens P05067
Y2H
8855266
Intra
APBB2 Q92870 APLP2 Homo sapiens Q06481 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others APBB2 NCBI