The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是叶酸受体(FOLR)家族的一个成员,并且这些基因在集群存在于11号染色体这个基因家族的成员具有对叶酸和对数减少的叶酸的高亲和性酸衍生物,和它们介导5-甲基递送至细胞内部。该蛋白质具有与FOLR1和FOLR3蛋白质68%和79%的序列同源性,分别为。虽然该蛋白最初被认为是特定的胎盘,它也可以存在于其它组织,并且它可以在甲氨蝶呤的滑膜巨噬细胞类风湿关节炎患者的运输中发挥作用。编码相同蛋白质的多个转录物变体已经发现这种基因。 [由RefSeq的,2008年7月提供]
FOLR2基因(以及对应的蛋白质)的细胞分布位置:
FOLR2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Neural Tube Defects | 0.12 | 1 | 0 | CTD_human |
Spina Bifida | 0.005005506 | 3 | 0 | BeFree_GAD |
Meningomyelocele | 0.002638474 | 1 | 0 | BeFree_GAD |
Congenital Heart Defects | 0.002367032 | 1 | 0 | GAD |
Hyperparathyroidism, Secondary | 0.002367032 | 1 | 0 | GAD |
Cleft Palate | 0.002367032 | 1 | 0 | GAD |
Cleft Lip | 0.002367032 | 1 | 0 | GAD |
Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
Rett Syndrome | 0.000271442 | 1 | 0 | BeFree |
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