Gene Gene information from NCBI Gene database.
Entrez ID 323
Gene name Amyloid beta precursor protein binding family B member 2
Gene symbol APBB2
Synonyms (NCBI Gene)
FE65LFE65L1
Chromosome 4
Chromosome location 4p14-p13
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 i
miRNA miRNA information provided by mirtarbase database.
608
miRTarBase ID miRNA Experiments Reference
MIRT016918 hsa-miR-335-5p Microarray 18185580
MIRT019283 hsa-miR-148b-3p Microarray 17612493
MIRT021359 hsa-miR-9-5p Microarray 17612493
MIRT028935 hsa-miR-26b-5p Microarray 19088304
MIRT050013 hsa-miR-27a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12089154
GO:0001540 Function Amyloid-beta binding IBA
GO:0001540 Function Amyloid-beta binding IEA
GO:0001764 Process Neuron migration IEA
GO:0005515 Function Protein binding IPI 8855266, 14527950, 16273093, 24658140, 31413325, 31980649, 32814053, 33961781, 35914814
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602710 582 ENSG00000163697
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92870
Protein name Amyloid beta precursor protein binding family B member 2 (Amyloid-beta (A4) precursor protein-binding family B member 2) (Protein Fe65-like 1)
Protein function Plays a role in the maintenance of lens transparency, and may also play a role in muscle cell strength (By similarity). Involved in hippocampal neurite branching and neuromuscular junction formation, as a result plays a role in spatial memory fu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 292 320 WW domain Domain
PF00640 PID 419 555 Phosphotyrosine interaction domain (PTB/PID) Domain
PF00640 PID 590 712 Phosphotyrosine interaction domain (PTB/PID) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8855266}.
Sequence
MSEVLPADSGVDTLAVFMASSGTTDVTNRNSPATPPNTLNLRSSHNELLNAEIKHTETKN
STPPKCRKKYALTNIQAAMGLSDPAAQPLLGNGSANIKLVKNGENQLRKAAEQGQQDPNK
NLSPTAVINITSEKLEGKEPHPQDSSSCEILPSQPRRTKSFLNYYADLETSARELEQNRG
NHHGTAEEKSQPVQGQASTIIGNGDLLLQKPNRPQSSPEDGQVATVSSSPETKKDHPKTG
AKTDCALHRIQNLAPSDEESSWTTLSQDSASPSSPDETDIWSDHSFQTDPDLPPGWKRVS
DIAGTYYWHIPTGTTQWERP
VSIPADLQGSRKGSLSSVTPSPTPENEKQPWSDFAVLNGG
KINSDIWKDLHAATVNPDPSLKEFEGATLRYASLKLRNAPHPDDDDSCSINSDPEAKCFA
VRSLGWVEMAEEDLAPGKSSVAVNNCIRQLSYCKNDIRDTVGIWGEGKDMYLILENDMLS
LVDPMDRSVLHSQPIVSIRVWGVGRDNGRDFAYVARDKDTRILKCHVFRCDTPAKAIATS
LHEICSKIMAERKNA
KALACSSLQERANVNLDVPLQVDFPTPKTELVQKFHVQYLGMLPV
DKPVGMDILNSAIENLMTSSNKEDWLSVNMNVADATVTVISEKNEEEVLVECRVRFLSFM
GVGKDVHTFAFIMDTGNQRFECHVFWCEPNAGNVSEAVQAACMLRYQKCLVA
RPPSQKVR
PPPPPADSVTRRVTTNVKRGVLSLIDTLKQKRPVTEMP
Sequence length 758
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 15714520
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 23384821
★☆☆☆☆
Found in Text Mining only
Glaucoma Open Angle Open angle glaucoma Pubtator 31688885, 34243759 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma, Primary Open Angle Glaucoma BEFREE 31688885
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition BEFREE 23384821
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 34165160 Associate
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 27622933
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood Disorder GWASCAT_DG 27622933
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 28029658
★☆☆☆☆
Found in Text Mining only
Senile Plaques Senile Plaques BEFREE 23384821
★☆☆☆☆
Found in Text Mining only