Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
323
Gene name Gene Name - the full gene name approved by the HGNC.
Amyloid beta precursor protein binding family B member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APBB2
Synonyms (NCBI Gene) Gene synonyms aliases
FE65L, FE65L1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p14-p13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602710 582 ENSG00000163697
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dental caries Dental caries N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 24112793, 26194614
Carcinoma Non Small Cell Lung Associate 34165160
Glaucoma Open Angle Associate 31688885, 34243759
Lung Neoplasms Associate 34165160
Plaque Amyloid Associate 24112793
Stomach Neoplasms Associate 34182542