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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
FOLR2 - Folate Receptor Beta
Alias:
FBP
FOLR1
FR-P3
FRbeta
FR-BETA
BETA-HFR
FBP/PL-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是叶酸受体(FOLR)家族的成员,这些基因位于染色体11上的一个簇中。这个基因家族的成员对叶酸和几种叶酸还原衍生物具有高亲和力,它们将5-甲基四氢叶酸输送到细胞内部。这个蛋白质与FOLR1和FOLR3蛋白质的序列同源性分别为68%和79%。尽管最初认为这个蛋白质特异性地存在于胎盘中,但它也可以存在于其他组织中,并且可能在类风湿关节炎患者的滑膜巨噬细胞中甲氨蝶呤的运输中发挥作用。已经发现这个基因的多个编码相同蛋白质的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2350
ENSEMBL:ENSG00000165457
HGNC:3793
UNIPROT:P14207
OMIM:136425
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
2350
6
5
5157 bp
29.28
9
--
4
11
FOLR2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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