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FLASH GENE
Symbol BMPER contributors: mct/ - updated : 18-09-2013
HGNC name BMP binding endothelial regulator
HGNC id 24154
Corresponding disease
DIASD diaphanospondylodysostosis
Location 7p14.3      Physical location : 33.945.111 - 34.194.111
Synonym name
  • crossveinless 2
  • likely ortholog of mouse BMP-binding endothelial regulator precursor protein
  • bone morphogenetic protein-binding endothelial cell precursor-derived regulator
  • Synonym symbol(s) CRIM3, CV-2, CV2, KIAA1965
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 250.96 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392989 7 hypothetical gene supported by AK130770; NM_003932 LOC392012 7 similar to PRPS2 protein LOC392013 7 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2) LSM5 7p14.3 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) KIAA0241 7p14.3 KIAA0241 protein KBTBD2 7p14.3 kelch repeat and BTB (POZ) domain containing 2 SEC8 LOC392652 7 similar to Retinitis pigmentosa 9 protein (Pim-1 associated protein) (PAP-1) FKBP9 7p11.1 FK506 binding protein 9, 63 kDa LOC89231 7p14.3 LOC89231 NT5C3 7p14.3 5'-nucleotidase, cytosolic III LOC222136 B1 7p14 parathyroid hormone-responsive B1 gene KBTBD2 7p14.3 kelch repeat and BTB (POZ) domain containing 2 LOC389477 7 similar to Retinitis pigmentosa 9 protein (Pim-1 associated protein) (PAP-1) FKBP9 7p11.1 FK506 binding protein 9, 63 kDa NT5C3 7p14.3 5'-nucleotidase, cytosolic III LOC222136 B1 7p14 parathyroid hormone-responsive B1 gene FLJ20712 7p14.3 hypothetical protein FLJ20712 FLJ32786 7q33 hypothetical protein FLJ32786 BMPER 7p14.3 hypothetical protein FLJ32786 SLC35B4 7q33 solute carrier family 35, member B4 AKR1B1 7q25 aldo-keto reductase family 1, member B1 (aldose reductase) FLJ20712 7p14.3 hypothetical protein FLJ20712 AKR1B10 7q33 aldo-keto reductase family 1, member B10 (aldose reductase) LOC392990 7 similar to aldo-keto reductase family 1, member B10; aldose reductase-like 1; aldo-keto reductase family 1, member B11 (aldose reductase-like); aldose reductase-like peptide; aldose reductase-related protein; small intestine reducta BMPER 7p14.3 similar to aldo-keto reductase family 1, member B10; aldose reductase-like 1; aldo-keto reductase family 1, member B11 (aldose reductase-like); aldose reductase-like peptide; aldose reductase-related protein; small intestine reducta BPGM 7q32 2,3-bisphosphoglycerate mutase LOC392991 7 similar to beta-tubulin CALD1 7q33-q34 caldesmon 1 LOC340351 7q33 hypothetical protein LOC340351 LOC392653 7 similar to RIKEN cDNA 9330128H10 gene LOC392992 7 similar to RING finger protein 14 (Androgen receptor-associated protein 54) (Triad2 protein) (HFB30) (HRIHFB2038) FLJ11000 7q33 hypothetical protein FLJ11000 MGC5242 7q33 hypothetical protein MGC5242 KIAA1466 7q33 KIAA1466 protein HSPC049 7q33 HSPC049 protein LOC346673 7q33 STRA8 LOC392993 7 similar to CG6293-PA KIAA0877 7p14.3-p14.2 KIAA0877 protein CNOT4 7q33 CCR4-NOT transcription complex, subunit 4 LOC389478 7 similar to RIKEN cDNA 9330128H10 gene LOC392654 7 similar to hypothetical protein FLJ32949 LOC392994 7 hypothetical gene supported by AK075360; NM_003002 LOC392655 7 similar to hypothetical protein FLJ32949 NUP205 7q33 nucleoporin 205kDa TBX20 7p15-p14 T-box 20 KIAA0877 7p14.3-p14.2 KIAA0877 protein LOC392995 7 similar to 60S ribosomal protein L15 SLC13A4 7q33 solute carrier family 13 (sodium/sulfate symporters), member 4 LOC392794 7 similar to HWKM1940 LOC222128 7p14.2 similar to hypothetical protein FLJ32949 LOC389479 7 similar to hypothetical protein FLJ32949 MTPN 7q33-q35 myotrophin
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3399 - 685 - 2008 18787191
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestivemouthtongue  highly Homo sapiens
     stomach   moderately Mus musculus
    Lymphoid/Immunespleen   highly Mus musculus
    Nervousbrain   highly Mus musculus
    Respiratorylung     Homo sapiens
     lung   highly Mus musculus
    Skin/Tegumentskin     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  moderately Mus musculus
    Muscularsmoothvessel highly Homo sapiens
    Muscularstriatumskeletal   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    not specificchondrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text placenta, in embryonic endothelial precursor cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five N-terminal well conserved cysteine repeat regions (CR1–5), which are involved in BMP binding
  • five tandem von Willebrand C-like domains at the N-terminal side, which are considered to form a BMP-binding site, one of five VWCs from chordin, can bind BMPs
  • five Chordin-like cysteine-rich domains
  • C-terminal containing a furin-like, a von Willebrand type D, and a trypsin inhibitor domain
  • HOMOLOGY
    interspecies ortholog to Drosophila melanogaster Crossveinless-2
    Homologene
    FAMILY
  • crossveinless 2 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • involved in cell adhesion and, binding of sperm to zona pellucida
  • antagonizing bone morphogenetic protein signaling and endothelial cell differentiation
  • regulating BMP responsiveness of osteoblasts and chondrocytes and inhibitor of BMP function
  • with chordin, and CHRDL2, regulate BMP2 signaling by different recognition mechanisms
  • permissive and necessary role for SMAD1/5 phosphorylation and induces Erk1/2 activation (necessary for BMP4 to exert its activating role in endothelial function and to induce SMAD1/5 activation)
  • dose-dependent endothelial cell activator that plays a unique and pivotal role in fine-tuning BMP activity in angiogenesis
  • plays an important role in endothelial cell function and blood vessel formation (Helbing 2009)
  • key regulator of BMP4 activity and a prerequisite for BMP pathway activation by BMP4 in endothelial cells
  • requirement for BMPER-mediated signaling in vertebral development
  • is a new protective regulator of vascular inflammation that modulates leukocyte adhesion and migration
  • BMP modulator BMPER is highly expressed in malignant tumors and tumor growth is dependent on the presence of BMPER
  • was more potent at inhibiting BMP effects compared with TWSG1, and there was no evidence of a significant additive anti-BMP effect of BMPER and TWSG1 together
  • may play a role in suppressing hepcidin in other forms of severe chronic anemia with iron loading or in diseases where there is a significant amount of angiogenesis
  • mutual regulation by GDF2 and BMPER is essential in regulating the development of the vascular endothelium
  • critical regulator of BMP-mediated vascular inflammation and that the fine-tuning of BMP and BMPER levels is essential in the maintenance of normal vascular homeostasis
  • is a novel regulator of osteoblast-like differentiation of VSMCs
  • is a novel regulator of the osteoblast-like differentiation of human coronary artery SMCs
  • appears to play a role in regulating both vessel density and cardiac development
  • BMPER and TWSG1 maintain a fine-tuned equilibrium that controls BMP pathway activity and is necessary for vascular cell homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with BMP2, BMP4, and BMP6
  • downstream target of FOXO3a and consistently exerts activating effects on endothelial cell sprouting and migration
  • inhibited the effects of both BMP2 and BMP6 on hepcidin production, although the effect on BMP6 was less pronounced than that for BMP2
  • disrupts complex formation involving ALK2, ALK1, BMP4, and GDF2 required for the induction of both BMP antagonists
  • TWSG1 and BMPER interfere with each other to enhance proangiogenic events
  • cell & other
    REGULATION
    activated by Krüppel-like factor (KLF)15 (KLF15 is a transducer of endothelin-1 activity on BMPER expression)
    inhibited by endothelin-1 in a dose-dependent fashion and in parallel to KLF15
    ASSOCIATED DISORDERS
    corresponding disease(s) DIASD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascular 
    may be a potential target for prevention of vascular calcification
    ANIMAL & CELL MODELS