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657 BMPR1A

657

BMPR1A

bone morphogenetic protein receptor type 1A

protein-coding

Homo sapiens

基因描述

Type Description
Definition bone morphogenetic protein receptor type 1A

研究结论

Date Results Publications
2021-01-09 13:25:00 BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency. 31769494
2020-09-05 13:54:00 Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A. 31259752
2020-07-11 12:16:00 dentified an interstitial 10q23.1q23.3 deletion in a buccal mucosa sample of Patient 1 that encompassed PTEN, BMPR1A, and KLLN, among others. In contrast, neither sequencing nor array-CGH analysis identified a pathogenic variant in PTEN or BMPR1A in a blood sample of Patient 2 31062505
2019-11-16 13:56:00 This high expression of BMPR1A is further increased upon BMP4 exposure. 30262802
2019-08-03 13:42:00 IL-6 may be responsible for coformation of new bone and excessive adipose tissue in rhBMP-2-induced bone voids. 29396550

名称对应

Type IDs
Synonymous 10q23del, ACVRLK3, ALK3, CD292, SKR5
Gene
UniProtKB-ID: BMR1A_HUMAN
UniprotKB: P36894
UniParc: UPI000006EB08
EMBL: Z22535, BC028383, AK291764
Ensembl: ENSG00000107779
KO: hsa:657
Nucleutide sequences
EMBL-CDS: BAF84453.1, AAH28383.1, CAA80257.1
Ensembl_TRS: ENST00000638429, ENST00000635816, ENST00000636056, ENST00000372037
Protein sequencees
Ensembl_PRO: ENSP00000490273, ENSP00000492290, ENSP00000361107, ENSP00000489707
RefSeq: XP_011538405.1, XP_011538406.1, NP_004320.2
Others
UniRef100: UniRef100_P36894
UniRef90: UniRef90_P36894
UniRef50: UniRef50_P36895
UniGene: Hs.524477
CCDS: CCDS7378.1

全选

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研究热度

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