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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
GFRA2 - GDNF Family Receptor Alpha 2
Alias:
NTNRA
RETL2
TRNR2
GDNFRB
NRTNR-ALPHA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
胶质细胞系衍生神经营养因子(GDNF)和中枢神经营养素(NTN)是两种在结构上相关的强效神经营养因子,它们在神经元生存和分化的控制中扮演关键角色。这个基因编码的蛋白质是GDNF受体家族的成员。它是一种通过糖磷脂酰肌醇(GPI)连接在细胞表面的受体,既可以结合GDNF也可以结合NTN,并调节RET酪氨酸激酶受体的激活。与它的其他家族成员相比,这个基因优先作为NTN的受体发挥作用。这个基因是RET相关疾病的候选基因。已经发现这个基因有多种编码不同异型的转录变异体。[由RefSeq,2009年9月提供]
Related ID:
NCBI:2675
ENSEMBL:ENSG00000168546
HGNC:4244
UNIPROT:O00451
OMIM:601956
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2675
7
9
121948 bp
51.54
28
--
5
6
GFRA2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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