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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
小鼠
Sptbn2 - spectrin beta, non-erythrocytic 2
Alias:
Spnb3
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
突触的结构成分。参与后突触组织。在成年行为、小脑Purkinje细胞层形态发生和突触组装的上游或内部发挥作用。位于顶质膜、神经元细胞体和旁节连接处。在几个细胞组件中活跃,包括谷氨酸能突触、平行纤维到Purkinje细胞的突触和后突触与谱蛋白相关的细胞骨架。在几个结构中表达,包括消化系统、中枢神经系统、眼睛、生殖泌尿系统和皮肤。用于研究脊髓小脑性共济失调5型。这种基因的人类同源物与常染色体隐性脊髓小脑性共济失调14和脊髓小脑性共济失调5型有关。与人类SPTBN2(谱蛋白β,非红细胞2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20743
ENSEMBL:ENSMUSG00000067889
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20743
1
37
42771 bp
Unknown
6
5
Sptbn2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
MGI
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