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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
TPCN2 - Two Pore Segment Channel 2
Alias:
TPC2
SHEP10
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有两个六跨膜结构域重复的假定阳离子选择性离子通道。该蛋白质定位到溶酶体膜上,并使烟酸腺嘌呤二核苷酸磷酸(NAADP)诱导的钙离子从与溶酶体相关的储存库中释放。这个普遍表达的基因在肝脏和肾脏中的表达升高。这个基因中的两个常见的非同义SNPs与金发与棕色头发色素沉着强烈相关。[由RefSeq提供,2009年12月]
Related ID:
NCBI:219931
ENSEMBL:ENSG00000162341
HGNC:20820
UNIPROT:Q8NHX9
OMIM:612163
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
219931
1
25
41666 bp
85.24
50
1
13
22
TPCN2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
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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
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References Literature
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