Type | Description |
---|---|
Definition | bone morphogenetic protein receptor type 1B |
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 |
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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