Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



BMPER Gene

protein-coding   GIFtS: 55
GCID: GC07P033944

BMP Binding Endothelial Regulator

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
BMP Binding Endothelial Regulator1 2     CV-22
crossveinless-21 2     BMP-Binding Endothelial Regulator Precursor Protein2
Bone Morphogenetic Protein-Binding Endothelial Cell Precursor-Derived
Regulator2 3
     BMP-Binding Endothelial Regulator Protein2
hCV22 3     Crossveinless 22
CV22 5     KIAA19653
CRIM32     Protein Crossveinless-23

External Ids:    HGNC: 241541   Entrez Gene: 1686672   Ensembl: ENSG000001646197   OMIM: 6086995   UniProtKB: Q8N8U93   

Export aliases for BMPER gene to outside databases

Previous GC identifers: GC07P033653 GC07P033686 GC07P033717 GC07P033911 GC07P033825


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for BMPER Gene:
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)

GeneCards Summary for BMPER Gene:
BMPER (BMP binding endothelial regulator) is a protein-coding gene. Diseases associated with BMPER include diaphanospondylodysostosis, and spondylocostal dysostosis. An important paralog of this gene is MUC5AC.

UniProtKB/Swiss-Prot: BMPER_HUMAN, Q8N8U9
Function: Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of
osteoblasts and chondrocytes

Gene Wiki entry for BMPER Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BMPER
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BMPER promoter sequence
   Search Chromatin IP Primers for BMPER

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BMPER


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p14.3   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p14.3

BMPER Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMPER gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P033944:  view genomic region     (about GC identifiers)

Start:
33,944,523 bp from pter      End:
34,195,484 bp from pter
Size:
250,962 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 33,989,465-34,238,520     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: BMPER_HUMAN, Q8N8U9 (See protein sequence)
Recommended Name: BMP-binding endothelial regulator protein precursor  
Size: 685 amino acids; 75997 Da
Subunit: Interacts with BMP4 (By similarity)
Secondary accessions: A8K1P8 Q8TF36

Explore the universe of human proteins at neXtProt for BMPER: NX_Q8N8U9

Explore proteomics data for BMPER at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn116, Asn247, Asn255, Asn318, Asn441
  • Modification sites at PhosphoSitePlus

  • See BMPER Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_597725.1  
    ENSEMBL proteins: 
     ENSP00000398835   ENSP00000297161   ENSP00000399843   ENSP00000409998   ENSP00000393950  

    BMPER Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for BMPER (Crossveinless-2/CV-2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BMPER
    GenScript Custom Purified and Recombinant Proteins Services for BMPER
    Novus Biologicals BMPER Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BMPER

    BMPER Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for BMPER (Crossveinless-2/CV-2)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for BMPER
    Novus Biologicals BMPER Antibodies
    Abcam antibodies for BMPER
    Cloud-Clone Corp. Antibodies for BMPER
    Search ThermoFisher Antibodies for BMPER
    LSBio Antibodies in human, mouse, rat for BMPER

    BMPER Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BMPER
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BMPER
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BMPER
    Cloud-Clone Corp. CLIAs for BMPER


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR014853 Unchr_dom_Cys-rich
     IPR002919 TIL_dom
     IPR001007 VWF_C
     IPR001846 VWF_type-D

    Graphical View of Domain Structure for InterPro Entry Q8N8U9

    ProtoNet protein and cluster: Q8N8U9

    2 Blocks protein domains:
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB002919 Trypsin inhibitor-like


    UniProtKB/Swiss-Prot: BMPER_HUMAN, Q8N8U9
    Similarity: Contains 1 TIL (trypsin inhibitory-like) domain
    Similarity: Contains 5 VWFC domains
    Similarity: Contains 1 VWFD domain


    BMPER for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMPER_HUMAN, Q8N8U9
    Function: Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of
    osteoblasts and chondrocytes

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BMPER for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BMPER:
     Increased G1 DNA content 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bmper):
     cardiovascular system  craniofacial  embryogenesis  growth/size/body  hearing/vestibular/ear 
     limbs/digits/tail  mortality/aging  nervous system  renal/urinary system  respiratory system 
     skeleton  vision/eye 

    BMPER for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BMPER: Bmpertm2Ysas Bmpertm1Ysas

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BMPER
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BMPER

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BMPER
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BMPER

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat BMPER using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BMPER (see all 22):
    hsa-miR-3664-5p hsa-miR-509-5p hsa-miR-374a hsa-miR-766 hsa-miR-520a-5p hsa-miR-3613-3p hsa-miR-651 hsa-miR-1910
    SwitchGear 3'UTR luciferase reporter plasmidBMPER 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BMPER
    Predesigned siRNA for gene silencing in human, mouse, rat BMPER

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BMPER

    Clone
    Products:
         
    OriGene clones in human, mouse for BMPER (see all 6)
    OriGene ORF clones in mouse, rat for BMPER
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BMPER (NM_133468)
    Sino Biological Human cDNA Clone for BMPER
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMPER
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMPER

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BMPER
    Browse ESI BIO Cell Lines and PureStem Progenitors for BMPER 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPER


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    BMPER_HUMAN, Q8N8U9: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IDA18787191

    BMPER for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Pathway & Disease-focused RT2 Profiler PCR Array including BMPER: 
              TGFB/BMP Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BMPER

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BMPER (Q8N8U93 ENSP000002971614) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    BMP2P126433, ENSP000003681044I2D: score=1 STRING: ENSP00000368104
    BMP6P220043, ENSP000002831474I2D: score=1 STRING: ENSP00000283147
    KCNK6ENSP000002633724STRING: ENSP00000263372
    KRTAP9-1ENSP000003814884STRING: ENSP00000381488
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development IEA--
    GO:0002043blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA18787191
    GO:0010594regulation of endothelial cell migration IDA18787191
    GO:0030514negative regulation of BMP signaling pathway TAS18787191
    GO:0042118endothelial cell activation IDA18787191

    BMPER for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BMPER



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for BMPER gene: 
    NM_133468.4  

    Unigene Cluster for BMPER:

    BMP binding endothelial regulator
    Hs.660998  [show with all ESTs]
    Unigene Representative Sequence: NM_133468
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448280 ENST00000297161(uc011kap.2) ENST00000496609 ENST00000436222
    ENST00000444773 ENST00000494786 ENST00000476525 ENST00000426693
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BMPER using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BMPER (see all 22):
    hsa-miR-3664-5p hsa-miR-509-5p hsa-miR-374a hsa-miR-766 hsa-miR-520a-5p hsa-miR-3613-3p hsa-miR-651 hsa-miR-1910
    SwitchGear 3'UTR luciferase reporter plasmidBMPER 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BMPER
    Predesigned siRNA for gene silencing in human, mouse, rat BMPER
    Clone
    Products:
         
    OriGene clones in human, mouse for BMPER (see all 6)
    OriGene ORF clones in mouse, rat for BMPER
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BMPER (NM_133468)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMPER
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMPER
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for BMPER
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BMPER
      QuantiTect SYBR Green Assays in human, mouse, rat BMPER
      QuantiFast Probe-based Assays in human, mouse, rat BMPER

    Additional mRNA sequence: 

    AB075845.1 AK289963.1 AY324650.1 BC060868.1 

    4 DOTS entries:

    DT.307586  DT.91835677  DT.95153310  DT.91945627 

    Selected AceView cDNA sequences (see all 28):

    BX380517 NM_133468 AA649871 BC060868 BQ005555 CR609827 CA449661 BM907459 
    BU689099 BX348331 CB856815 BX102594 BX348332 BE743889 AB075845 AY324650 
    AW779103 BX952325 AV723284 AA142989 AI423201 AK096150 BF999553 CB856814 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for BMPER    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                                          -                           
    SP2:                                                                                -                     


    ECgene alternative splicing isoforms for BMPER

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    BMPER expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAAAATGA
    BMPER Expression
    About this image


    BMPER expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     NULL (Uncategorized)    fully expand to see all 4 entries
             Definitive endoderm-like cells
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cushion Mesenchymal Cells Endocardium
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
    BMPER Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BMPER Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.660998

    UniProtKB/Swiss-Prot: BMPER_HUMAN, Q8N8U9
    Tissue specificity: Highly expressed in lung, and brain and also in primary chondrocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including BMPER: 
              TGFB/BMP Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for BMPER
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BMPER
    QuantiTect SYBR Green Assays in human, mouse, rat BMPER
    QuantiFast Probe-based Assays in human, mouse, rat BMPER
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPER

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for BMPER gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bmper1 , 5 BMP-binding endothelial regulator1, 5 87.83(n)1
    92.7(a)1
      9 (9.55 cM)5
    732301  NM_028472.21  NP_082748.11 
     232230765 
    chicken
    (Gallus gallus)
    Aves BMPER1 BMP binding endothelial regulator 78.59(n)
    82.78(a)
      420744  NM_001007080.1  NP_001007081.1 
    lizard
    (Anolis carolinensis)
    Reptilia BMPER6
    BMP binding endothelial regulator
    82(a)
    1 ↔ 1
    6(45726927-45940161)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.151232 Xenopus laevis transcribed sequence with weak similarity more 75.56(n)    BJ037012.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bmper1 BMP binding endothelial regulator 64.75(n)
    65.56(a)
      338246  NM_001020487.1  NP_001018323.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cv-21 crossveinless 2 47.03(n)
    37.52(a)
      45280  NM_080070.3  NP_524809.2 


    ENSEMBL Gene Tree for BMPER (if available)
    TreeFam Gene Tree for BMPER (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for BMPER gene
    MUC5AC2  ZAN2  TECTA2  MUC22  OTOG2  OTOGL2  MUC62  MUC192  
    FCGBP2  VWF2  

    BMPER for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for BMPER (see all 4874)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0658234
    Diaphanospondylodysostosis (DSD)4--see VAR_0658232 P L mis40--------
    rs797036491,2
    C--33914386(+) CTTGAG/AGGGTG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs20428111,2
    C,F--33914398(-) TACTGC/TTGCCA 1 -- us2k14Minor allele frequency- T:0.01NA EA 372
    rs77926071,2
    C,F--33914517(+) TATAAC/TAAACA 1 -- us2k1 tfbs31Minor allele frequency- T:0.03WA 118
    rs14274841,2
    C,F,H--33914666(-) CATAAT/CGTGCA 1 -- us2k111Minor allele frequency- C:0.05NS EA NA 1200
    rs731103191,2
    C,F--33914685(+) ACACAC/AAGCTA 1 -- us2k11Minor allele frequency- A:0.20NA 120
    rs20428101,2
    C,H--33914695(-) TGATAG/AAATCT 1 -- us2k14Minor allele frequency- A:0.00NS EA 416
    rs764440521,2
    C,F--33914759(+) AAGGCA/TTATCA 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1867855131,2
    --33914963(+) ACTGAC/TTGTAC 1 -- us2k10--------
    rs1921834581,2
    --33915034(+) TTAATA/GAGTCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BMPER (33944523 - 34194523 bp, first 250kb of BMPER)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for BMPER:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1127e201CNV Deletion23290073
    esv1009646CNV Deletion20482838
    nsv436907CNV Insertion17901297
    nsv887926CNV Loss21882294
    nsv523931CNV Loss19592680
    nsv830949CNV Gain17160897
    nsv819996CNV Gain19587683
    nsv830947CNV Gain17160897

    Human Gene Mutation Database (HGMD): BMPER
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BMPER
    DNA2.0 Custom Variant and Variant Library Synthesis for BMPER

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 608699   
    OMIM disorders: 608022  
    UniProtKB/Swiss-Prot: BMPER_HUMAN, Q8N8U9
  • Diaphanospondylodysostosis (DSD) [MIM:608022]: A rare, recessively inherited, perinatal lethal skeletal
    disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral
    segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent
    craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose,
    and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys,
    but other visceral findings have been described in some cases. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 12 diseases for BMPER:    
    About MalaCards
    diaphanospondylodysostosis    spondylocostal dysostosis    hypoplastic left heart syndrome    dysostosis
    endotheliitis    cystic kidney    atherosclerosis    hepatitis c
    hepatitis    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for BMPER:
    Spondylocostal dysostosis

    BMPER for disorders           About GeneDecksing

    Genetic Association Database (GAD): BMPER

    Export disorders for BMPER gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for BMPER gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with BMPER)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Crossveinless-2 is a novel inhibitor of bone morphogenetic proteins. (PubMed id 14766204)1, 2, 3, 9 Binnerts M.E.... Rupp F. (Biochem. Biophys. Res. Commun. 2004)
    2. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. (PubMed id 20869035)1, 2 Funari V.A.... Cohn D.H. (Am. J. Hum. Genet. 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. BMPER, a novel endothelial cell precursor-derived protein, antagonizes bone morphogenetic protein signaling and endothelial cell differentiation. (PubMed id 12897139)1, 3 Moser M....Patterson C. (Mol. Cell. Biol. 2003)
    6. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    7. Antagonism and synergy between extracellular BMP modulators Tsg and BMPER balance blood vessel formation. (PubMed id 23641068)1 Heinke J....Moser M. (J. Cell. Sci. 2013)
    8. Bone morphogenetic protein modulator BMPER is highly expressed in malignant tumors and controls invasive cell behavior. (PubMed id 22020334)1 Heinke J....Moser M. (Oncogene 2012)
    9. Crossveinless 2 regulates bone morphogenetic protein 9 in human and mouse vascular endothelium. (PubMed id 22474252)1 Yao Y....BostrAPm K.I. (Blood 2012)
    10. Osteoblast-like differentiation of cultured human coronary artery smooth muscle cells by bone morphogenetic protein endothelial cell precursor-derived regulator (BMPER). (PubMed id 22778264)1 Satomi-Kobayashi S....Rikitake Y. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 168667 HGNC: 24154 AceView: BMPER Ensembl:ENSG00000164619 euGenes: HUgn168667
    ECgene: BMPER H-InvDB: BMPER

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1965

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for BMPER Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for BMPER gene:
    Search GeneIP for patents involving BMPER

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for BMPER (Crossveinless-2/CV-2)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for BMPER (Crossveinless-2/CV-2)   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for BMPER  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for BMPER  
     OriGene qSTAR qPCR primer pairs in human, mouse for BMPER   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for BMPER   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for BMPER   OriGene Custom Protein Services for BMPER  

     
     
     Block miRNA regulation of human, mouse, rat BMPER using miScript Target Protectors SeqTarget long-range PCR primers for resequencing BMPER
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BMPER Predesigned siRNA for gene silencing in human, mouse, rat BMPER
     QuantiFast Probe-based Assays in human, mouse, rat BMPER QuantiTect SYBR Green Assays in human, mouse, rat BMPER
     PCR Arrays including human, mouse, rat BMPER Search Chromatin IP Primers for BMPER
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BMPER  GeneGlobe Interaction Network for BMPER
     Search Regulatory tfbs for BMPER
     GenScript Custom Purified and Recombinant Proteins Services for BMPER GenScript cDNA clones with any tag delivered in your preferred vector for BMPER
     GenScript Custom Assay Services for BMPER GenScript Custom overexpressing Cell Line Services for BMPER
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for BMPER
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for BMPER
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     BMPER antibodies
     BMPER proteins
     Antibodies for BMPER
     See all of Abcam's Antibodies, Kits and Proteins for BMPER
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for BMPER
     Antibodies for BMPER
     ELISAs for BMPER
     CLIAs for BMPER



     Browse ESI BIO Cell Lines and PureStem Progenitors for BMPER
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPER
     SwitchGear 3'UTR luciferase reporter plasmids for BMPER
     SwitchGear Promoter luciferase reporter plasmids for BMPER
     Search ThermoFisher Antibodies for BMPER
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMPER
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BMPER
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BMPER
     LSBio Antibodies in human, mouse, rat for BMPER
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      BMPER gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4