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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
Shank3 - SH3 and multiple ankyrin repeat domains 3
Alias:
Spank-2
proSAP2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
离子型谷氨酸受体结合活性;蛋白质C端结合活性;支架蛋白结合活性。突触后密度结构的组成部分。参与几个过程,包括学习或记忆;化学突触传递的调节;以及突触后组织的建立。在几个过程的上游或内部发挥作用,包括MAPK级联;肌动蛋白束集合的负调控;以及AMPA谷氨酸受体聚集的调节。位于谷氨酸能突触和神经元棘突。是质膜细胞侧的外部成分。在大脑和大脑皮质中表达。用于研究Phelan-McDermid综合征;自闭症谱系障碍;和精神分裂症。这个基因的人类同源物涉及Phelan-McDermid综合征和精神分裂症15。与人类SHANK3(SH3和多个锚蛋白重复结构域3)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:58234
ENSEMBL:ENSMUSG00000022623
UNIPROT:Q4ACU6
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
58234
3
22
67536 bp
185.40
35
17
Shank3 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
MGI
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