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658 BMPR1B

658

BMPR1B

bone morphogenetic protein receptor type 1B

protein-coding

Homo sapiens

基因描述

Type Description
Definition bone morphogenetic protein receptor type 1B

研究结论

Date Results Publications
2021-01-09 13:25:00 BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency. 31769494
2020-05-09 12:26:00 identified 2 SNPs on BMPR1B showing significantly independent correlations with thicker cIMT. 30713213
2019-06-29 10:09:00 A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type in a consanguineous family of Pakistani origin 29322508
2019-03-23 10:57:00 the level of apoptosis was inversely proportional to the expression of bone morphogenetic protein (BMPR1B) and follicle stimulating hormone (FSH) receptors, in granulosa cells. 29113831
2019-02-23 12:24:00 Our findings show that also recessive complex digit malformation can be caused by BMPR1B variant and not all biallelic BMPR1B variants cause acromesomelic dysplasia. PDHA2 is a novel candidate gene for male infertility; the protein product is a mitochondrial enzyme with highest expression in ejaculated sperm. 29581481

名称对应

Type IDs
Synonymous ALK-6, ALK6, AMDD, BDA1D, BDA2, CDw293
Gene
UniProtKB-ID: BMR1B_HUMAN, A8KAE3_HUMAN
UniprotKB: O00238, A8KAE3
UniParc: UPI00017A7CB9, UPI000000DC59, UPI00015DAAA4
EMBL: U89326, AK313642, AC105395, BC069803, AC004061, AK299930, AK293008, CH471057, BC047773, AC093634, BC069796, AC092609, D89675
Ensembl: ENSG00000138696
KO: hsa:658
Nucleutide sequences
EMBL-CDS: BAG36400.1, AAC28131.1, BAA19765.1, AAH69796.1, EAX06060.1, BAG61763.1, AAH69803.1, AAH47773.1, BAF85697.1
Ensembl_TRS: ENST00000509540, ENST00000440890, ENST00000394931, ENST00000264568, ENST00000515059, ENST00000512312, ENST00000672698
Protein sequencees
Ensembl_PRO: ENSP00000378389, ENSP00000500035, ENSP00000264568, ENSP00000425444, ENSP00000426617, ENSP00000401907, ENSP00000421671
RefSeq: NP_001243723.1, XP_016864047.1, XP_016864048.1, NP_001243722.1, NP_001243721.1, NP_001194.1, XP_016864050.1, XP_016864049.1, XP_011530503.1
Others
UniRef100: UniRef100_A8KAE3, UniRef100_O00238
UniRef90: UniRef90_O00238
UniRef50: UniRef50_P36895
UniGene: Hs.598475
CCDS: CCDS58919.1, CCDS3642.1

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