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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
RET - Ret Proto-oncogene
Alias:
PTC
MTC1
HSCR1
MEN2A
MEN2B
CDHF12
CDHR16
RET-ELE1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个跨膜受体,属于酪氨酸蛋白激酶家族。结合配体如GDNF(星形细胞系衍生神经营养因子)和其他相关蛋白质到编码的受体上,刺激受体二聚化并激活下游信号通路,参与细胞分化、生长、迁移和生存。编码的受体在神经系统发育和神经嵴衍生器官和组织的发展中起着重要作用。这个原癌基因可以通过细胞遗传重排和激活点突变发生癌基因激活。这个基因的突变与先天性巨结肠病和中枢性呼吸不足综合症有关,并在肾发育不全患者中被发现。[由RefSeq,2017年9月提供]
Related ID:
NCBI:5979
ENSEMBL:ENSG00000165731
HGNC:9967
UNIPROT:P07949
OMIM:164761
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5979
41
20
53283 bp
124.32
3130
23
52
96
RET Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
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Alphabetical
Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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