人类

INVS - Inversin

Alias:
INV
NPH2
NPHP2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有多个ankyrin结构域和两个IQ钙调素结合结构域的蛋白质。编码的蛋白质可能参与肾小管发育和功能,以及左右轴决定。这个蛋白质与nephrin相互作用,暗示初级纤毛功能与左右轴决定之间存在联系。小鼠中的类似蛋白质与钙调素相互作用。这个基因的突变与肾髓质病2型有关。已经在这个基因中鉴定出多个编码不同异型的转录变异体。[由RefSeq提供,2012年5月]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3
17
202933 bp
117.83
661
5
6
10

INVS 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

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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Mutation Direct
Sequence
Comparison
Al agent
Tutorials
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