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321 APBA2

321

APBA2

amyloid beta precursor protein binding family A member 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition amyloid beta precursor protein binding family A member 2

研究结论

Date Results Publications
2020-10-10 12:58:00 A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function. 30988517
2020-04-11 10:46:00 Using exome sequencing and QTL analysis, study identified seven genome-wide significant loci accounting for approximately one-third of total variance and two-thirds of genetic variance in exploratory locomotion (EL), a behavioral phenotype correlated with vulnerability to addiction, and found convergent evidence for a role of APBA2 in humans. 31182603
2018-04-14 11:53:00 These results support the hypothesis that APBA2 gene expression in different areas of Alzheimer's patient's brains. 28164769
2014-10-11 10:10:00 Mints are necessary for activity-induced APP and PS1 trafficking and provide insight into the cellular fate of APP in endocytic pathways essential for Abeta production. 24742670
2014-07-19 11:27:00 Aberrant MINT2 methylation in body fluids may predict peritoneal micrometastasis for gastric cancer (GC) patients, which is a potential poor prognostic factor in GC. 24385013

名称对应

Type IDs
Synonymous D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11-BETA, X11L
Gene
UniProtKB-ID: APBA2_HUMAN, Q59G28_HUMAN
UniprotKB: Q99767, Q59G28
UniParc: UPI00001FE0ED, UPI00004F6C36, UPI0000046798
EMBL: AF047348, AC024474, AC127522, U79255, AB014719, BC082986, AC174469, AB209281, AF029108
Ensembl: ENSG00000034053, ENSG00000276495
KO: hsa:321
Nucleutide sequences
EMBL-CDS: AAB50203.1, AAC39767.1, AAC05306.1, BAA34734.1, AAH82986.1, BAD92518.1
Ensembl_TRS: ENST00000558402, ENST00000612449, ENST00000558330, ENST00000561069, ENST00000620457, ENST00000558259, ENST00000411764, ENST00000631894
Protein sequencees
Ensembl_PRO: ENSP00000483174, ENSP00000453144, ENSP00000488107, ENSP00000409312, ENSP00000454171, ENSP00000453293, ENSP00000452722, ENSP00000480384
RefSeq: NP_001340717.1, NP_001340719.1, XP_016877601.1, XP_011519793.1, NP_001340724.1, NP_001123886.1, XP_016877599.1, XP_011519794.1, NP_001340726.1, XP_011519791.1, XP_024305677.1, NP_001340721.1, NP_001340723.1, NP_001340722.1, NP_001340718.1, NP_001340720.1, NP_001340725.1, XP_011519792.1, XP_011519790.1, NP_005494.2, NP_001366614.1
Others
UniRef100: UniRef100_Q99767, UniRef100_Q59G28
UniRef90: UniRef90_Q5RD33, UniRef90_Q99767
UniRef50: UniRef50_Q99767, UniRef50_Q5RD33
UniGene: Hs.618112, Hs.721380
CCDS: CCDS45197.1, CCDS10022.1

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