BMPER
entrez
168667
canonical
uniprot
Q8N8U9
canonical
ensembl
ENSG00000164619
resolver
ensp
ENSP00000297161
resolver
ensp
ENSP00000497748
resolver
ensp
ENSP00000497963
resolver
enst
ENST00000297161
resolver
enst
ENST00000648848
resolver
enst
ENST00000649409
resolver
genesymbol
BMPER
resolver
genesymbol_syn
KIAA1965
resolver
hgnc
HGNC:24154
resolver
uniprot
A0A3B3ITW7
resolver
uniprot
A8K1P8
resolver
uniprot
Q8TF36
resolver
uniprot_entry
A0A3B3ITW7_HUMAN
resolver
uniprot_entry
BMPER_HUMAN
resolver
uniprot_sec
A8K1P8
resolver
uniprot_sec
Q8TF36
resolver
amino_acid_sequence
MLWFSGVGALAERYCRRSPGITCCVLLLLNCSGVPMSLASSFLTGSVAKCENEGEVLQIPFITDNPCIMCVCLNKEVTCKREKCPVLSRDCALAIKQRGACCEQCKGCTYEGNTYNSSFKWQSPAEPCVLRQCQEGVVTESGVRCVVHCKNPLEHLGMCCPTCPGCVFEGVQYQEGEEFQPEGSKCTKCSCTGGRTQCVREVCPILSCPQHLSHIPPGQCCPKCLGQRKVFDLPFGSCLFRSDVYDNGSSFLYDNCTACTCRDSTVVCKRKCSHPGGCDQGQEGCCEECLLRVPPEDIKVCKFGNKIFQDGEMWSSINCTICACVKGRTECRNKQCIPISSCPQGKILNRKGCCPICTEKPGVCTVFGDPHYNTFDGRTFNFQGTCQYVLTKDCSSPASPFQVLVKNDARRTRSFSWTKSVELVLGESRVSLQQHLTVRWNGSRIALPCRAPHFHIDLDGYLLKVTTKAGLEISWDGDSFVEVMAAPHLKGKLCGLCGNYNGHKRDDLIGGDGNFKFDVDDFAESWRVESNEFCNRPQRKPVPELCQGTVKVKLRAHRECQKLKSWEFQTCHSTVDYATFYRSCVTDMCECPVHKNCYCESFLAYTRACQREGIKVHWEPQQNCAATQCKHGAVYDTCGPGCIKTCDNWNEIGPCNKPCVAGCHCPANLVLHKGRCIKPVLCPQR
uniprot
proteins
disease_involvement
DISEASE: Diaphanospondylodysostosis (DSD) [MIM:608022]: A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases. {ECO:0000269|PubMed:20869035}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes. {ECO:0000269|PubMed:14766204}.
uniprot
proteins
mass_dalton
75997
uniprot
proteins
pubmed
11853319
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14766204
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20869035
uniprot
proteins
sequence_length
685
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14766204}.
uniprot
proteins