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    BMPER BMP binding endothelial regulator [ Homo sapiens (human) ]

    Gene ID: 168667, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BMPERprovided by HGNC
    Official Full Name
    BMP binding endothelial regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:24154
    See related
    Ensembl:ENSG00000164619 MIM:608699; AllianceGenome:HGNC:24154
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CV2; CV-2; CRIM3
    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. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]
    Expression
    Broad expression in prostate (RPKM 4.5), brain (RPKM 3.2) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BMPER in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (33904915..34156427)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (34044656..34296293)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (33944527..34196039)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901612 Neighboring gene uncharacterized LOC124901613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25836 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:33972520-33972786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34033417-34034047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34034048-34034677 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:34074011-34075210 Neighboring gene VISTA enhancer hs1336 Neighboring gene NANOG hESC enhancer GRCh37_chr7:34115590-34116091 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34214913-34215520 Neighboring gene NANOG hESC enhancer GRCh37_chr7:34251459-34251988 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:34258701-34259255 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:34264670-34265500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25837 Neighboring gene RNA, U6 small nuclear 438, pseudogene Neighboring gene NPSR1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:34476732-34476921 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34553347-34553924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:34592037-34592538 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:34691494-34692079 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:34694009-34695208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:34699869-34700706 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34701543-34702378 Neighboring gene neuropeptide S receptor 1 Neighboring gene ribosomal protein L7 pseudogene 31

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Osteoblast-like differentiation of cultured human coronary artery smooth muscle cells by bone morphogenetic protein endothelial cell precursor-derived regulator (BMPER). Satomi-Kobayashi S, et al. J Biol Chem, 2012 Aug 31. PMID 22778264, Free PMC Article
    2. Human Crossveinless-2 is a novel inhibitor of bone morphogenetic proteins. Binnerts ME, et al. Biochem Biophys Res Commun, 2004 Mar 5. PMID 14766204
    3. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review. Batey N, et al. Eur J Med Genet, 2022 Apr. PMID 35240322
    4. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process. Braun F, et al. Mol Genet Genomic Med, 2021 Dec. PMID 34288564, Free PMC Article
    5. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. Funari VA, et al. Am J Hum Genet, 2010 Oct 8. PMID 20869035, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BMPER is a marker of adipose progenitors and adipocytes and a positive modulator of adipogenesis.
      Title: BMPER is a marker of adipose progenitors and adipocytes and a positive modulator of adipogenesis.
    2. IL-6/Stat3 suppresses osteogenic differentiation in ossification of the posterior longitudinal ligament via miR-135b-mediated BMPER reduction.
      Title: IL-6/Stat3 suppresses osteogenic differentiation in ossification of the posterior longitudinal ligament via miR-135b-mediated BMPER reduction.
    3. BMPER alleviates ischemic brain injury by protecting neurons and inhibiting neuroinflammation via Smad3-Akt-Nrf2 pathway.
      Title: BMPER alleviates ischemic brain injury by protecting neurons and inhibiting neuroinflammation via Smad3-Akt-Nrf2 pathway.
    4. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.
      Title: Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.
    5. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
      Title: Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
    6. Integrated In Silico-In Vitro Identification and Optimization of Bone Morphogenic Protein-2 Armpit Epitope as Its Antagonist Binding Site.
      Title: Integrated In Silico-In Vitro Identification and Optimization of Bone Morphogenic Protein-2 Armpit Epitope as Its Antagonist Binding Site.
    7. Overexpression of BMPER in Ovarian Cancer and the Mechanism by which It Promotes Malignant Biological Behavior in Tumor Cells.
      Title: Overexpression of BMPER in Ovarian Cancer and the Mechanism by which It Promotes Malignant Biological Behavior in Tumor Cells.
    8. Internal cleavage and synergy with TWSG1 enhance BMP-4 inhibition by BMPER.
      Title: Internal cleavage and synergy with twisted gastrulation enhance BMP inhibition by BMPER.
    9. BMPER possesses valuable discriminative capacity for urosepsis and is a strong predictor of adverse outcome in patients with urosepsis.
      Title: Diagnostic and Prognostic Values of BMPER in Patients with Urosepsis following Ureteroscopic Lithotripsy.
    10. A novel homozygous mutation in BMPER (c.410T>A; p.Val137Asp) was found in three fetuses with diaphanospondylodysostosis.
      Title: Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Diaphanospondylodysostosis
    MedGen: C1842691 OMIM: 608022 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in blood vessel development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in endothelial cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inner ear development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of sprouting angiogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BMP-binding endothelial regulator protein
    Names
    BMP-binding endothelial regulator precursor protein
    bone morphogenetic protein-binding endothelial cell precursor-derived regulator
    crossveinless 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031933.1 RefSeqGene

      Range
      5629..256517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1276

    mRNA and Protein(s)

    1. NM_001365308.1 → NP_001352237.1  BMP-binding endothelial regulator protein isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC007350, AC010002
      Consensus CDS
      CCDS5442.1
      UniProtKB/Swiss-Prot
      A8K1P8, Q8N8U9, Q8TF36
      UniProtKB/TrEMBL
      A0A090N7U6, A0A3B3ITY4
      Related
      ENSP00000497748.1, ENST00000649409.2
      Conserved Domains (5) summary
      pfam00093
      Location:166 → 224
      VWC; von Willebrand factor type C domain
      pfam00094
      Location:364 → 508
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:629 → 682
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:560 → 624
      C8; C8 domain
      cl17735
      Location:301 → 357
      VWC; von Willebrand factor type C domain

    2. NM_001410872.1 → NP_001397801.1  BMP-binding endothelial regulator protein isoform b precursor

      Status: REVIEWED

      Source sequence(s)
      AC007350, AC010002
      Consensus CDS
      CCDS94083.1
      UniProtKB/TrEMBL
      A0A3B3ITW7
      Related
      ENSP00000497963.1, ENST00000648848.1

    3. NM_133468.5 → NP_597725.1  BMP-binding endothelial regulator protein isoform a precursor

      See identical proteins and their annotated locations for NP_597725.1

      Status: REVIEWED

      Source sequence(s)
      AB075845, AC007350, AY324650, BC060868, DB322218
      Consensus CDS
      CCDS5442.1
      UniProtKB/Swiss-Prot
      A8K1P8, Q8N8U9, Q8TF36
      UniProtKB/TrEMBL
      A0A090N7U6, A0A3B3ITY4
      Related
      ENSP00000297161.2, ENST00000297161.6
      Conserved Domains (5) summary
      pfam00093
      Location:166 → 224
      VWC; von Willebrand factor type C domain
      pfam00094
      Location:364 → 508
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:629 → 682
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:560 → 624
      C8; C8 domain
      cl17735
      Location:301 → 357
      VWC; von Willebrand factor type C domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      33904915..34156427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419939.1 → XP_047275895.1  BMP-binding endothelial regulator protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      34044656..34296293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357397.1 → XP_054213372.1  BMP-binding endothelial regulator protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8U9.3 GenPept UniProtKB/Swiss-Prot:Q8N8U9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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