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中文人类
VDR - Vitamin D Receptor
Alias:
NR1I1
PPP1R163
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该基因编码维生素D3受体，属于核激素受体超家族，是配体诱导的转录因子。该受体还作为次级胆汁酸石胆酸的受体发挥作用。维生素D3受体的下游靶点主要涉及矿物质代谢，尽管该受体调节各种其他代谢途径，如涉及免疫应答和癌症的途径。该基因的突变与Ⅱ型维生素D抵抗性佝偻病有关。起始密码子中的一个单核苷酸多态性导致下游三个密码子的替代翻译起始位点。已描述了编码不同异构体的可变剪接转录变异体。最近的研究提供了该基因中翻译读穿的证据，并通过使用替代的帧内翻译终止密码子表达了额外的C端延伸的异构体。[由RefSeq，2018年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
VDR Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
