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6452 SH3BP2

6452

SH3BP2

SH3 domain binding protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition SH3 domain binding protein 2

研究结论

Date Results Publications
2019-07-06 10:32:00 The current study shows that SH3BP2 is expressed in primary tumors and cell lines from Gastrointestinal stromal tumors (GISTs) patients and that SH3BP2 silencing leads to a downregulation of oncogenic KIT and PDGFRA expression and an increase in apoptosis in imatinib-sensitive and imatinib-resistant GIST cells. 29885053
2018-09-01 11:09:00 All members featured a heterozygous missense c.1244G>C; p.Arg415Pro SH3BP2 mutation 28721660
2015-07-04 11:00:00 The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival. 25810396
2015-04-11 10:14:00 A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family 24608212
2013-07-20 11:58:00 Authors conclude that a novel p.Asp419Tyr alteration in SH3BP2 to be a cherubism-causing mutation in a Turkish family. 23083484

名称对应

Type IDs
Synonymous 3BP-2, 3BP2, CRBM, CRPM, RES4-23
Gene
UniProtKB-ID: 3BP2_HUMAN, A0A384N6E5_HUMAN
UniprotKB: P78314, A0A384N6E5
UniParc: UPI0000124ED7, UPI00017A7A9D, UPI000002A2BE, UPI00019638E3
EMBL: AF000936, GQ900977, U56386, CH471131, AK312286, AB000463, AL121750, BC022996, AB000462, AK299996
Ensembl: ENSG00000087266
KO: hsa:6452
Nucleutide sequences
EMBL-CDS: BAG35213.1, BAA19120.1, EAW82509.1, EAW82512.1, BAG61816.1, EAW82511.1, AAH22996.1, AAB72034.1, BAA19119.1, EAW82510.1, AAB59973.1, ADO22494.1
Gene_ORFName: RES4-23
Ensembl_TRS: ENST00000503393, ENST00000511747, ENST00000356331, ENST00000515737, ENST00000435136, ENST00000513020
Protein sequencees
Ensembl_PRO: ENSP00000424072, ENSP00000348685, ENSP00000424846, ENSP00000422168, ENSP00000403231, ENSP00000422605
RefSeq: NP_003014.3, NP_001139327.1, NP_001116153.1, NP_001139328.1
Others
UniRef100: UniRef100_P78314
UniRef90: UniRef90_P78314
UniRef50: UniRef50_P78314
UniGene: Hs.167679
CCDS: CCDS33944.1, CCDS54716.1, CCDS54715.1

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