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9699 RIMS2

9699

RIMS2

regulating synaptic membrane exocytosis 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition regulating synaptic membrane exocytosis 2

研究结论

Date Results Publications
2020-10-10 13:00:00 Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. 32470375
2017-06-10 10:17:00 Electrophysiological characterization of VDCC currents revealed that the suppressive effect of RIM2alpha on voltage-dependent inactivation (VDI) was stronger than that of RIM1alpha for the CaV2.1 variant containing the region encoded by exons 44 and 47. 28377503
2012-04-07 10:55:00 Here, we report that, like Rab3A, RIM and Munc13 are present in human sperm and that they play a functional role in acrosomal exocytosis before the acrosomal calcium efflux 22248876
2010-10-04 11:40:00 These data suggest that RIM2beta contributes to the stabilization of Ca(v)1.3 gating kinetics in immature cochlear inner hair cells. 20363327
2010-06-30 22:06:00 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) 20520587

名称对应

Type IDs
Synonymous OBOE, RAB3IP3, RIM2
Gene
UniProtKB-ID: RIMS2_HUMAN
UniprotKB: Q9UQ26
UniParc: UPI0000232DF4, UPI0000232DF2, UPI00001C0389, UPI0001597063, UPI0000140594, UPI0000070A77, UPI0000232D31, UPI0000232DF5
EMBL: AK126939, AB018294, AC090448, BC043144, AP001572, AC007751, AC090686, AY057121, AF007156, AY057119, AC107933, AC012213, AP002849
Ensembl: ENSG00000176406
KO: hsa:9699
Nucleutide sequences
EMBL-CDS: AAL23681.1, BAG54403.1, BAA34471.2, AAC19157.1, AAL23679.1, AAH43144.1
Ensembl_TRS: ENST00000504942, ENST00000262231, ENST00000507740, ENST00000339750
Protein sequencees
Ensembl_PRO: ENSP00000262231, ENSP00000342051, ENSP00000427018, ENSP00000423559
RefSeq: XP_016869513.1, XP_016869501.1, XP_016869523.1, NP_001335434.1, XP_005251163.1, XP_005251164.1, NP_001335435.1, XP_024303113.1, NP_001335438.1, XP_011515700.1, XP_024303115.1, NP_001335426.1, NP_001335413.1, NP_001335419.1, NP_001269811.1, NP_001335417.1, XP_024303114.1, NP_001335418.1, NP_001335437.1, XP_024303112.1, NP_001335423.1, NP_001269810.1, NP_001335433.1, XP_016869504.1, NP_055492.3, NP_001335432.1, XP_016869505.1, NP_001335427.1, XP_016869508.1, NP_001335414.1, NP_001335429.1, NP_001335430.1, NP_001335422.1, XP_016869498.1, XP_016869511.1, NP_001335415.1, NP_001335436.1, XP_016869496.1, XP_006716761.1, XP_016869497.1, XP_016869512.1, XP_016869503.1, NP_001335421.1, XP_024303110.1, XP_016869510.1, XP_016869499.1, NP_001335428.1, XP_024303111.1, XP_016869506.1, NP_001335424.1, XP_016869500.1, XP_016869495.1, XP_016869517.1, NP_001335420.1, NP_001093587.1, NP_001335425.1, NP_001335431.1, NP_001335416.1, XP_016869516.1, XP_016869525.1, XP_011515697.1
Others
UniRef100: UniRef100_Q9UQ26
UniRef90: UniRef90_Q9UQ26
UniRef50: UniRef50_Q9UQ26
UniGene: Hs.655271
CCDS: CCDS43761.1, CCDS64948.1, CCDS55269.1, CCDS64949.1

全选

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