BMPER (BMP binding endothelial regulator)

Gene

• Entrez ID: 168667
• Gene name: BMP binding endothelial regulator
• Gene symbol: BMPER
• Synonyms: CRIM3, CV-2, CV2
• Chromosome: 7
• Chromosome location: 7p14.3
• Summary: 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.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906992	C>T	Pathogenic	Coding sequence variant, stop gained
rs387906993	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs387906994	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554300601	T>A	Pathogenic-likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT495258	hsa-miR-132-3p	PAR-CLIP	23708386
MIRT495257	hsa-miR-212-3p	PAR-CLIP	23708386
MIRT495256	hsa-miR-4803	PAR-CLIP	23708386
MIRT495258	hsa-miR-132-3p	PAR-CLIP	23708386
MIRT495257	hsa-miR-212-3p	PAR-CLIP	23708386
MIRT495256	hsa-miR-4803	PAR-CLIP	23708386
MIRT822754	hsa-miR-1305	CLIP-seq
MIRT739617	hsa-miR-1910	CLIP-seq
MIRT822755	hsa-miR-1915	CLIP-seq
MIRT822756	hsa-miR-1976	CLIP-seq
MIRT822757	hsa-miR-19a	CLIP-seq
MIRT822758	hsa-miR-19b	CLIP-seq
MIRT739624	hsa-miR-200b	CLIP-seq
MIRT739625	hsa-miR-200c	CLIP-seq
MIRT739616	hsa-miR-205	CLIP-seq
MIRT739622	hsa-miR-217	CLIP-seq
MIRT822759	hsa-miR-3124-3p	CLIP-seq
MIRT822760	hsa-miR-3671	CLIP-seq
MIRT822761	hsa-miR-369-3p	CLIP-seq
MIRT822762	hsa-miR-370	CLIP-seq
MIRT822763	hsa-miR-374a	CLIP-seq
MIRT822764	hsa-miR-374b	CLIP-seq
MIRT822765	hsa-miR-421	CLIP-seq
MIRT739623	hsa-miR-429	CLIP-seq
MIRT739619	hsa-miR-4418	CLIP-seq
MIRT822766	hsa-miR-4643	CLIP-seq
MIRT822767	hsa-miR-4645-5p	CLIP-seq
MIRT822768	hsa-miR-4659a-3p	CLIP-seq
MIRT822769	hsa-miR-4659b-3p	CLIP-seq
MIRT822770	hsa-miR-4673	CLIP-seq
MIRT822771	hsa-miR-4709-5p	CLIP-seq
MIRT739621	hsa-miR-4719	CLIP-seq
MIRT822772	hsa-miR-4726-3p	CLIP-seq
MIRT822773	hsa-miR-4775	CLIP-seq
MIRT822774	hsa-miR-4781-3p	CLIP-seq
MIRT739618	hsa-miR-509-3-5p	CLIP-seq
MIRT739620	hsa-miR-509-5p	CLIP-seq
MIRT822775	hsa-miR-511	CLIP-seq
MIRT822776	hsa-miR-607	CLIP-seq
MIRT822777	hsa-miR-626	CLIP-seq
MIRT1943190	hsa-miR-1226	CLIP-seq
MIRT739617	hsa-miR-1910	CLIP-seq
MIRT739624	hsa-miR-200b	CLIP-seq
MIRT739625	hsa-miR-200c	CLIP-seq
MIRT739622	hsa-miR-217	CLIP-seq
MIRT1943191	hsa-miR-224	CLIP-seq
MIRT1943192	hsa-miR-3973	CLIP-seq
MIRT739623	hsa-miR-429	CLIP-seq
MIRT739619	hsa-miR-4418	CLIP-seq
MIRT1943193	hsa-miR-4733-3p	CLIP-seq
MIRT739618	hsa-miR-509-3-5p	CLIP-seq
MIRT739620	hsa-miR-509-5p	CLIP-seq
MIRT1943194	hsa-miR-520g	CLIP-seq
MIRT1943195	hsa-miR-520h	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IBA	21873635
GO:0001657	Process	Ureteric bud development	IEA
GO:0002043	Process	Blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	18787191
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	18787191
GO:0010594	Process	Regulation of endothelial cell migration	IDA	18787191
GO:0030514	Process	Negative regulation of BMP signaling pathway	TAS	18787191
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0042118	Process	Endothelial cell activation	IDA	18787191
GO:0045765	Process	Regulation of angiogenesis	IBA	21873635
GO:0048839	Process	Inner ear development	IEA
GO:0060393	Process	Regulation of pathway-restricted SMAD protein phosphorylation	IDA	18787191
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	18787191
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IGI	28124060

Other IDs

• MIM: 608699
• HGNC: 24154
• e!Ensembl: ENSG00000164619

Protein

• UniProt ID: Q8N8U9
• Protein name: BMP-binding endothelial regulator protein (Bone morphogenetic protein-binding endothelial cell precursor-derived regulator) (Protein crossveinless-2) (hCV2)
• Protein function: Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00093	VWC	166 → 224	von Willebrand factor type C domain	Family
  PF00093	VWC	301 → 357	von Willebrand factor type C domain	Family
  PF00094	VWD	364 → 514	von Willebrand factor type D domain	Family
  PF08742	C8	559 → 624	C8 domain	Domain
  PF01826	TIL	629 → 682	Trypsin Inhibitor like cysteine rich domain	Domain

• Sequence:

  MLWFSGVGALAERYCRRSPGITCCVLLLLNCSGVPMSLASSFLTGSVAKCENEGEVLQIP
  FITDNPCIMCVCLNKEVTCKREKCPVLSRDCALAIKQRGACCEQCKGCTYEGNTYNSSFK
  WQSPAEPCVLRQCQEGVVTESGVRCVVHCKNPLEHLGMCCPTCPGCVFEGVQYQEGEEFQ
  PEGSKCTKCSCTGGRTQCVREVCPILSCPQHLSHIPPGQCCPKCLGQRKVFDLPFGSCLF
  RSDVYDNGSSFLYDNCTACTCRDSTVVCKRKCSHPGGCDQGQEGCCEECLLRVPPEDIKV
  CKFGNKIFQDGEMWSSINCTICACVKGRTECRNKQCIPISSCPQGKILNRKGCCPICTEK
  PGVCTVFGDPHYNTFDGRTFNFQGTCQYVLTKDCSSPASPFQVLVKNDARRTRSFSWTKS
  VELVLGESRVSLQQHLTVRWNGSRIALPCRAPHFHIDLDGYLLKVTTKAGLEISWDGDSF
  VEVMAAPHLKGKLCGLCGNYNGHKRDDLIGGDGNFKFDVDDFAESWRVESNEFCNRPQRK
  PVPELCQGTVKVKLRAHRECQKLKSWEFQTCHSTVDYATFYRSCVTDMCECPVHKNCYCE
  SFLAYTRACQREGIKVHWEPQQNCAATQCKHGAVYDTCGPGCIKTCDNWNEIGPCNKPCV
  AGCHCPANLVLHKGRCIKPVLCPQR

• Sequence length: 685

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	24770881
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diaphanospondylodysostosis	Diaphanospondylodysostosis	rs387906992, rs2128599896, rs559550154, rs387906993, rs387906994, rs1554300601	20869035, 21990102, 30006055
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937

Unknown
Disease name	Disease term	dbSNP ID	References
Abnormal spinal segmentation	Defect of vertebral segmentation
Congenital clubfoot	Congenital clubfoot
Congenital epicanthus	Congenital Epicanthus
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Ischiovertebral syndrome	Ischiovertebral syndrome
Liver carcinoma	Liver carcinoma		28284560
Meningomyelocele	Meningomyelocele
Micrognathism	Micrognathism
Multiple renal cysts	Multiple renal cysts
Neck webbing	Neck webbing
Thoracic hypoplasia	Thoracic hypoplasia
Tracheomalacia	Tracheomalacia