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4882 NPR2

4882

NPR2

natriuretic peptide receptor 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition natriuretic peptide receptor 2

研究结论

Date Results Publications
2021-04-03 13:32:00 Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations. 31960617
2021-02-20 13:35:00 Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations. 32720985
2020-11-28 13:15:00 Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation. 31927522
2020-11-21 13:17:00 NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy. 31990356
2020-08-12 12:23:00 Maroteaux-type acromesomelic dysplasia caused by NPR2 mutation has been found in a pedigree from Vietnam. 31077548

名称对应

Type IDs
Synonymous AMDM, ANPRB, ANPb, ECDM, GUC2B, GUCY2B, NPRB, NPRBi, SNSK
Gene
UniProtKB-ID: ANPRB_HUMAN
UniprotKB: P20594
UniParc: UPI000002A3C6, UPI0000125B42
EMBL: AL133410, AJ005282, BC023017, AB005647, CH471071, EU326311
Ensembl: ENSG00000159899
KO: hsa:4882
Nucleutide sequences
EMBL-CDS: EAW58339.1, CAA06466.1, EAW58338.1, EAW58340.1, ACA05921.1, ACA05920.1, AAH23017.1, BAA81737.1, EAW58337.1
Ensembl_TRS: ENST00000342694
Protein sequencees
Ensembl_PRO: ENSP00000341083
RefSeq: XP_024303324.1, XP_024303327.1, XP_024303326.1, XP_024303328.1, NP_001365852.1, XP_024303325.1, XP_024303329.1, NP_003986.2
Others
UniRef100: UniRef100_P20594
UniRef90: UniRef90_P20594
UniRef50: UniRef50_P20594
UniGene: Hs.78518
CCDS: CCDS6590.1

全选

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