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26960 NBEA

26960

NBEA

neurobeachin

protein-coding

Homo sapiens

基因描述

Type Description
Definition neurobeachin

研究结论

Date Results Publications
2020-05-30 11:33:00 Our study suggests that rs180940944 (NBEA) is associated with an increased Non-muscle-invasive Bladder Cancer tumour size at the time of diagnosis 31277774
2019-08-24 11:22:00 We identified 24 de novo NBEA variants in patients with neurodevelopmental disease, establishing NBEA as an neurodevelopmental disease gene 30269351
2016-10-29 10:51:00 NBEA encodes neurobeachin: we found no evidence of association in data from the GWAS migraine meta-analysis consortium (n=118,710 participants) suggesting that the association might be specific to migraine co-morbid with bipolar disorder. 25451450
2012-12-22 11:15:00 Data indicate that the PVT1-NBEA and the PVT1-WWOX chimeric genes were associated with the expression of abnormal NBEA and WWOX. 22869583
2012-12-08 11:21:00 Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin. 22745750

名称对应

Type IDs
Synonymous BCL8B, LYST2
Gene
UniProtKB-ID: NBEA_HUMAN, Q5T321_HUMAN, B3KXQ8_HUMAN
UniprotKB: Q8NFP9, Q5T321, B3KXQ8
UniParc: UPI0001914D04, UPI00004A28B0, UPI00001AEF56, UPI00004FF92F, UPI0000071D8A
EMBL: AL159160, AF467288, AK127791, AL390071, CH471075, AF072371, AL356430, AL161718, AL357083, AK294737, AL139083, AL161902, AL138690, AK001059, AB046764, AL137748
Ensembl: ENSG00000172915
KO: hsa:26960
Nucleutide sequences
EMBL-CDS: BAA91485.1, CAB70903.2, BAB13370.1, BAH11865.1, CAI17183.1, AAD41633.1, AAM53531.1, CAH71883.1, EAX08545.1, BAG54570.1
Gene_ORFName: hCG_2019985
Ensembl_TRS: ENST00000400445, ENST00000379922, ENST00000537702, ENST00000379939
Protein sequencees
Ensembl_PRO: ENSP00000440233, ENSP00000383295, ENSP00000369254, ENSP00000369271
RefSeq: XP_006719866.1, XP_005266403.1, XP_006719868.1, XP_011533349.1, XP_024305106.1, NP_056493.3, XP_011533348.1, NP_001371941.1, XP_016876035.1, XP_016876034.1, NP_001191126.1, XP_016876033.1, NP_001366174.1, XP_006719869.1
Others
UniRef100: UniRef100_Q5T321, UniRef100_Q8NFP9, UniRef100_B3KXQ8
UniRef90: UniRef90_Q9EPN1, UniRef90_B3KXQ8
UniRef50: UniRef50_B3KXQ8, UniRef50_Q9EPN1
UniGene: Hs.491172
CCDS: CCDS55894.1, CCDS45026.1

全选

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研究热度

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