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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
BMPER-related disorder	Pathogenic	rs777026516	RCV004758051	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diaphanospondylodysostosis	Likely pathogenic; Pathogenic	rs1222340958, rs387906992, rs2128599896, rs559550154, rs387906993, rs387906994, rs1554300601	RCV003143102 RCV000023721 RCV000023722 RCV000023723 RCV000023724 RCV000023725 RCV000677141	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	24770881		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	24770881		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	21274861		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37813278	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	22778264	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	32309430	Stimulate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	8835349, 8985292		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22778264	Associate	★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28393918		★☆☆☆☆ Found in Text Mining only
Diaphanospondylodysostosis	Diaphanospondylodysostosis	BEFREE	20869035, 21990102, 26728142		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diaphanospondylodysostosis	Diaphanospondylodysostosis	ORPHANET_DG	20869035, 21990102		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diaphanospondylodysostosis	Diaphanospondylodysostosis	GENOMICS_ENGLAND_DG	20869035		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diaphanospondylodysostosis	Diaphanospondylodysostosis	UNIPROT_DG	20869035		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diaphanospondylodysostosis	Diaphanospondylodysostosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diaphanospondylodysostosis	Diaphanospondylodysostosis	Pubtator	26728142, 34288564, 38355094	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diaphanospondylodysostosis	Diaphanospondylodysostosis	CLINVAR_DG	30006055		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diaphanospondylodysostosis	Diaphanospondylodysostosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dysostoses	Dysphoric mood	Pubtator	26728142	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24861286		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24861286		★☆☆☆☆ Found in Text Mining only
Ischiovertebral syndrome	Ischiovertebral Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	8985292		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	8835349, 8985292		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32309430	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32309430	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	38355094	Associate	★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	20869035, 21990102, 26728142, 28815954, 30006055		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	15158341, 21410752, 24861286		★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	28747434		★☆☆☆☆ Found in Text Mining only