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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
RPH3AL - Rabphilin 3A Like (without C2 Domains)
Alias:
NOC2
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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在内分泌和外分泌细胞中在钙离子依赖的突触释放中扮演直接调控作用,并在胰腺细胞中胰岛素分泌中起关键作用。这个基因可能是肿瘤抑制因子。可变剪接产生多个转录变异体,编码不同的异构体。[由RefSeq,2010年6月提供]
Related ID:
NCBI:9501
ENSEMBL:ENSG00000181031
HGNC:10296
UNIPROT:Q9UNE2
OMIM:604881
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9501
4
10
140419 bp
34.46
23
--
3
4
RPH3AL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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