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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
IGF2R - Insulin Like Growth Factor 2 Receptor
Alias:
MPR1
MPRI
CD222
CIMPR
M6P-R
MPR300
CI-M6PR
MPR 300
M6P/IGF2R
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个同时结合胰岛素样生长因子2和甘露糖6-磷酸的受体。每个配体的结合位点位于蛋白质的不同区域。这个受体具有多种功能,包括在溶酶体酶的细胞内转运、转化生长因子β的激活以及胰岛素样生长因子2的降解。这个基因的突变或杂合性缺失与肝细胞癌的风险增加有关。小鼠的同源基因是印迹的,并且只从母源等位基因进行表达;然而,人类基因的印迹可能是多态性的,因为只有少数个体表现出母源等位基因的偏斜表达(PMID:8267611)。[由RefSeq,2015年11月提供]
Related ID:
NCBI:3482
ENSEMBL:ENSG00000197081
HGNC:5467
UNIPROT:P11717
OMIM:147280
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3482
1
48
142423 bp
274.38
120
1
13
27
IGF2R Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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