BMPER (BMP binding endothelial regulator)

Gene

• Entrez ID: 168667
• Gene name: BMP binding endothelial regulator
• Gene symbol: BMPER
• Synonyms (NCBI Gene): 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
GO:0001657	Process	Ureteric bud development	IEA
GO:0002043	Process	Blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	18787191
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	18787191
GO:0010594	Process	Regulation of endothelial cell migration	IDA	18787191
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0035295	Process	Tube development	IEA
GO:0042118	Process	Endothelial cell activation	IDA	18787191
GO:0045765	Process	Regulation of angiogenesis	IBA
GO:0048731	Process	System development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	18787191
GO:0060395	Process	SMAD protein signal transduction	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	18787191
GO:0090092	Process	Regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA
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

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in lung, and brain and also in primary chondrocytes. {ECO:0000269|PubMed:14766204}.
• Sequence:

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

• Sequence length: 685

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
BMPER-related disorder	Pathogenic	rs777026516	RCV004758051
Diaphanospondylodysostosis	Likely pathogenic; Pathogenic	rs1222340958, rs387906992, rs2128599896, rs559550154, rs387906993, rs387906994, rs1554300601	RCV003143102 RCV000023721 RCV000023722 RCV000023723 RCV000023724 RCV000023725 RCV000677141

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs74674953	RCV005899211
Cervical cancer	Benign	rs77835415	RCV005899213
Clear cell carcinoma of kidney	Benign	rs74734392	RCV005899204
Colon adenocarcinoma	Benign; Likely benign	rs74674953	RCV005899210
Familial cancer of breast	Benign; Likely benign	rs74674953, rs74734392	RCV005899209 RCV005899201
Glioma susceptibility 1	Likely benign	rs373141339	RCV005926130
Hepatocellular carcinoma	Benign	rs116085783	RCV005899207
Malignant tumor of esophagus	Benign	rs74734392	RCV005899203
Malignant tumor of urinary bladder	Benign	rs74734392	RCV005899202
Ovarian cancer	Benign	rs113711026	RCV005899199
Ovarian serous cystadenocarcinoma	Benign	rs113711026, rs77835415	RCV005899200 RCV005899214
Sarcoma	Benign; Likely benign	rs74674953, rs116085783, rs74734392	RCV005899212 RCV005899208 RCV005899205
Thyroid cancer, nonmedullary, 1	Benign	rs74734392	RCV005899206
Uterine carcinosarcoma	Benign	rs10226493	RCV005916648

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	37813278
Calcinosis	Associate	22778264
Carcinoma Ovarian Epithelial	Stimulate	32309430
Coronary Artery Disease	Associate	22778264
Diaphanospondylodysostosis	Associate	26728142, 34288564, 38355094
Dysostoses	Associate	26728142
HEM dysplasia	Associate	26728142
Lymphatic Metastasis	Stimulate	32309430
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	26728142
Neoplasms	Associate	31659097, 32309430, 37813278
Ovarian Neoplasms	Associate	32309430
Plaque Atherosclerotic	Associate	22778264
Scoliosis	Associate	38355094