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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
RIMS2 - Regulating Synaptic Membrane Exocytosis 2
Alias:
OBOE
RIM2
CRSDS
RAB3IP3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种突触前蛋白质,与RAB3相互作用,RAB3是正常神经递质释放的重要蛋白质。编码的蛋白质还可以与几种其他突触蛋白质结合,包括UNC-13同源B、ELKS/Rab6相互作用/CAST家族成员1和突触整合素1。这个蛋白质参与突触膜的外泌作用。这个基因的多态性与退行性腰椎脊柱侧弯有关。[RefSeq,2017年2月提供]
Related ID:
NCBI:9699
ENSEMBL:ENSG00000176406
HGNC:17283
UNIPROT:Q9UQ26
OMIM:606630
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9699
64
30
755485 bp
160.40
88
1
9
9
RIMS2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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