• Gene id: 168667

Gene Summary

• Gene Symbol: BMPER   Gene   UCSC   Ensembl
• Aliases: CRIM3, CV-2, CV2
• Gene name: BMP binding endothelial regulator
• Alternate names: BMP-binding endothelial regulator protein, BMP-binding endothelial regulator precursor protein, bone morphogenetic protein-binding endothelial cell precursor-derived regulator, crossveinless 2,
• Gene location: 7p14.3 (33904914: 34156426)     Exons: 16     NC_000007.14
• Gene summary(Entrez): This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells.
• OMIM: 607440

Protein Summary

• Protein general information: Q8N8U9  
  • Name: BMP binding endothelial regulator protein (Bone morphogenetic protein binding endothelial cell precursor derived regulator) (Protein crossveinless 2) (hCV2)
  • Length: 685  
  • Mass: 75997
  • Tissue specificity: Highly expressed in lung, and brain and also in primary chondrocytes. {ECO
• Sequence:

  MLWFSGVGALAERYCRRSPGITCCVLLLLNCSGVPMSLASSFLTGSVAKCENEGEVLQIPFITDNPCIMCVCLNK
  EVTCKREKCPVLSRDCALAIKQRGACCEQCKGCTYEGNTYNSSFKWQSPAEPCVLRQCQEGVVTESGVRCVVHCK
  NPLEHLGMCCPTCPGCVFEGVQYQEGEEFQPEGSKCTKCSCTGGRTQCVREVCPILSCPQHLSHIPPGQCCPKCL
  GQRKVFDLPFGSCLFRSDVYDNGSSFLYDNCTACTCRDSTVVCKRKCSHPGGCDQGQEGCCEECLLRVPPEDIKV
  CKFGNKIFQDGEMWSSINCTICACVKGRTECRNKQCIPISSCPQGKILNRKGCCPICTEKPGVCTVFGDPHYNTF
  DGRTFNFQGTCQYVLTKDCSSPASPFQVLVKNDARRTRSFSWTKSVELVLGESRVSLQQHLTVRWNGSRIALPCR
  APHFHIDLDGYLLKVTTKAGLEISWDGDSFVEVMAAPHLKGKLCGLCGNYNGHKRDDLIGGDGNFKFDVDDFAES
  WRVESNEFCNRPQRKPVPELCQGTVKVKLRAHRECQKLKSWEFQTCHSTVDYATFYRSCVTDMCECPVHKNCYCE
  SFLAYTRACQREGIKVHWEPQQNCAATQCKHGAVYDTCGPGCIKTCDNWNEIGPCNKPCVAGCHCPANLVLHKGR
  CIKPVLCPQR

• Structural information:
  • Protein Domains: (50..10-)
    (/note="VWFC-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00220-)
    (108..16-)
    (/note="VWFC-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00220-)
    (164..22-)
    (/note="VWFC-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00220-)
    (-)
  • Interpro: IPR036084  IPR002919  IPR014853  IPR001007  IPR001846  
  • Prosite: PS01208 PS50184 PS51233
  • DIP: 47327
  • STRING: ENSP00000297161
• Other Databases: GeneCards:  BMPER  Malacards:  BMPER

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0048839	inner ear development	IEA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0001657	ureteric bud development	IEA	biological process
GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0010594	regulation of endothelial cell migration	IDA	biological process
GO:0042118	endothelial cell activation	IDA	biological process
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0030514	negative regulation of BMP signaling pathway	TAS	biological process
GO:1903672	positive regulation of sprouting angiogenesis	IGI	biological process
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Diaphanospondylodysostosis	KEGG:H01844
Diaphanospondylodysostosis	KEGG:H01844
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq