|
Gene id |
656 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
BMP8B Gene UCSC Ensembl |
|
Aliases |
BMP8, OP2 |
|
Gene name |
bone morphogenetic protein 8b |
|
Alternate names |
bone morphogenetic protein 8B, bone morphogenetic protein 8 (osteogenic protein 2), osteogenic protein 2, |
|
Gene location |
1p34.2 (39788864: 39757181) Exons: 12 NC_000020.11
|
|
Gene summary(Entrez) |
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
|
|
OMIM |
602284 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
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|
|
|
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| Associated diseases |
References |
| Obesity | GAD: 20734064 |
| Associated with germ-cell proliferation in early puberty, and for germ-cell survival and fertility | MIK: 8682296 |
| Spermatogenesis defects | MIK: 9076678 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Associated with germ-cell proliferation in early puberty, and for germ-cell survival and fertility | MIK: 8682296 |
| Associated with spermatogenesis and epigenetic regulation | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 9076678 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 9076678 |
Role in th
e initiati
on and mai
ntenance o
f spermato
genesis in
the mouse
|
|
|
|
Male infertility |
|
Show abstract |
| 8682296 |
Associated
with germ
-cell prol
iferation
in early p
uberty, an
d for germ
-cell surv
ival and f
ertility
|
|
|
|
Male infertility |
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|