APBB2 (GeneID: 323) | Homo sapiens
Description: amyloid beta precursor protein binding family B member 2 [Source:HGNC Symbol;Acc:HGNC:582]
Synonyms: FE65L, FE65L1
Other ID(s): HGNC:582, ENSG00000163697
Protein Accession Numbers: ENST00000510670, ENST00000543538, NP_004298, ENST00000503264, ENST00000513516, NP_001159526, ENST00000508676, ENST00000512510, NP_001159523, ENST00000504305, ENST00000509446, ENST00000514920, NP_001317587, ENST00000502841, ENST00000513493, NP_001159525, ENST00000508593, ENST00000510925, NP_001159522, NP_775098, ENST00000503503, ENST00000508707, ENST00000513611, NP_001317585, ENST00000295974, ENST00000513140, NP_001159524, ENST00000506352
Statistics: COSMIC(696)
COSMIC Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000295974 ENST00000502841 ENST00000503264 ENST00000503503 ENST00000504305 ENST00000506352 You are here now! ENST00000508593 ENST00000508676 ENST00000508707 ENST00000509446 ENST00000510670 ENST00000510925 ENST00000512510 ENST00000513140 ENST00000513493 ENST00000513516 ENST00000513611 ENST00000514920 ENST00000543538 NP_001159522 NP_001159523 NP_001159524 NP_001159525 NP_001159526 NP_001317585 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00397 WW WW domain 292-320 CL0680 WW Homo sapiens
PF00640 PID Phosphotyrosine interaction domain (PTB/PID) 398-534 CL0266 PH Homo sapiens
PF00640 PID Phosphotyrosine interaction domain (PTB/PID) 569-691 CL0266 PH Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.762 0.103
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.762 0.103
Weight Gain Pathological Conditions, Signs and Symptoms ; 0.762 0.103
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.762 0.103
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.762 0.103
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.762 0.103
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.762 0.103
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.762 0.103
NO RESULT FOUND
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