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23218 NBEAL2

23218

NBEAL2

neurobeachin like 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition neurobeachin like 2

研究结论

Date Results Publications
2021-03-13 13:18:00 The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte alpha-granule biogenesis. 32384141
2020-10-31 13:14:00 Defective Zn(2+) homeostasis in mouse and human platelets with alpha- and delta-storage pool diseases. 31171812
2019-08-10 10:53:00 NBEAL2 is required for the retention of both endocytosed and megakaryocyte-synthesized proteins by maturing alpha-granules, and possibly by platelet-borne granules. This function may involve interaction of NBEAL2 with P-selectin. 30354215
2019-03-23 11:29:00 Nbeal2 interacts with Dock7, Sec16a, and Vac14. 29187380
2018-11-10 10:05:00 Author observed absence of NBEAL2 in platelets from GPS patients with 3 different genotypes, and reduced/truncated platelet NBEAL2 has been reported for others. 29869935

名称对应

Type IDs
Synonymous BDPLT4, GPS
Gene
UniProtKB-ID: NBEL2_HUMAN
UniprotKB: Q6ZNJ1
UniParc: UPI00024B9D1D, UPI000173AA1C, UPI000022C020
EMBL: AC094020, AK092871, AY358455, AK131104, BC060874, AB011112
Ensembl: ENSG00000160796
KO: hsa:23218
Nucleutide sequences
EMBL-CDS: BAC03994.1, AAH60874.2, BAA25466.3, AAQ88820.1, BAC85154.1
Gene_ORFName: UNQ253/PRO290
Ensembl_TRS: ENST00000450053
Protein sequencees
Ensembl_PRO: ENSP00000415034
RefSeq: XP_016861505.1, XP_006713135.1, NP_001352045.1, XP_016861500.1, XP_016861502.1, XP_016861499.1, XP_016861503.1, XP_011531835.1, XP_016861501.1, XP_016861504.1, NP_055990.1, XP_016861506.1
Others
UniRef100: UniRef100_Q6ZNJ1
UniRef90: UniRef90_Q6ZNJ1
UniRef50: UniRef50_Q6ZNJ1
UniGene: Hs.437043
CCDS: CCDS46817.1

全选

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研究热度

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