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6710 SPTB

6710

SPTB

spectrin beta, erythrocytic

protein-coding

Homo sapiens

基因描述

Type Description
Definition spectrin beta, erythrocytic

研究结论

Date Results Publications
2020-05-09 13:18:00 Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia. 30198572
2020-01-18 12:15:00 proband with Hereditary spherocytosis was found to carry a c.5798+1G>A variant of the SPTB gene 31922588
2019-11-02 11:06:00 Study found that betaI spectrin was only weakly stained or lost in hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC) cases while at least moderately stained in normal hepatocytes and all focal nodular hyperplasia (FNH) and hepatic adenoma (HA) cases. These findings suggest, for the first time, that betaI spectrins could be helpful in differentiating HCC from FNH or HA. 30798076
2019-10-26 10:40:00 These findings suggest that band 3 and spectrin are potential targets of autoantibodies that may be relevant for P. vivax malaria-associated anemia. 29884876
2019-04-27 10:32:00 Patient 4 had c.318delGExon3 mutation in the SPTB gene 31014431

名称对应

Type IDs
Synonymous EL3, HS2, HSPTB1, SPH2
Gene
UniProtKB-ID: SPTB1_HUMAN
UniprotKB: P11277
UniParc: UPI00015DFD73, UPI000053030D, UPI000053030C
EMBL: X59510, X59511, J05500, M57948, M18054, M37884, M37885, AL121774
Ensembl: ENSG00000070182
KO: hsa:6710
Nucleutide sequences
EMBL-CDS: AAA60572.1, AAA60578.1, CAA42098.1, AAA60579.1, AAA63259.1, AAA60571.1, CAA42097.1
Ensembl_TRS: ENST00000644917, ENST00000389720, ENST00000389722
Protein sequencees
Ensembl_PRO: ENSP00000374372, ENSP00000495909, ENSP00000374370
RefSeq: XP_024305467.1, NP_001342365.1, NP_001342366.1, XP_011535407.1, XP_016877101.1, NP_001020029.1
Others
UniRef100: UniRef100_P11277
UniRef90: UniRef90_P11277
UniRef50: UniRef50_P11277
UniGene: Hs.417303
CCDS: CCDS32100.1, CCDS32099.1

全选

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