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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BMPER Gene

protein-coding   GIFtS: 55
GCID: GC07P033944

BMP binding endothelial regulator
 Explore 8 diseases affiliated with
BMPER via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BMPER    

Aliases
for BMPER gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
BMP Binding Endothelial Regulator1 2     BMP-Binding Endothelial Regulator Precursor Protein2
CRIM31 2     BMP-Binding Endothelial Regulator Protein2
Bone Morphogenetic Protein-Binding Endothelial Cell Precursor-Derived Regulator2 3     Crossveinless 22
HCV21     Crossveinless-21
Cv21     KIAA19653
CV-22     Protein Crossveinless-23
CV22     

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


Summaries
for BMPER gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BMPER
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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     

Proteins
for BMPER gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Secreted
Secondary accessions: A8K1P8 Q8TF36

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N8U9

    • BMPER Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    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 Protein Services for BMPER 
    GenScript Custom Purified and Recombinant Proteins Services for BMPER
    Novus Biologicals BMPER Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BMPER

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    BMPER for ontologies           About GeneDecksing



    BMPER Antibody Products: 
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    Novus Biologicals BMPER Antibodies
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    Uscn Antibodies for BMPER
    ThermoFisher Antibodies for BMPER

    Assay Products for BMPER: 
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    Uscn ELISAs and CLIAs for BMPER

    Protein Domains /
    Families
    for BMPER gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BMPER for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for BMPER gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: BMPER
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMPER
    8/22 QIAGEN miScript miRNA 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 plasmid: BMPER 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BMPER (see all 6)
    OriGene siRNA: BMPER
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BMPER

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BMPER (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    Browse Sino Biological Human cDNA Clones
    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
    Search LifeMap BioReagents cell lines for BMPER

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPER

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    BMPER for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for BMPER:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-outs for BMPER: Bmpertm2Ysas Bmpertm1Ysas
         11 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Bmper):
     craniofacial  embryogenesis  growth/size  hearing/vestibular/ear  limbs/digits/tail 
     mortality/aging  nervous system  renal/urinary system  respiratory system  skeleton 
     vision/eye 

    BMPER for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BMPER gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BMPER

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for BMPER (Q8N8U93 ENSP000002971614) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    BMP6P220043, ENSP000002831474I2D: score=1 STRING: ENSP00000283147
    BMP2P126433, ENSP000003681044I2D: score=1 STRING: ENSP00000368104
    ASH2LENSP000003408964STRING: ENSP00000340896
    BMP7ENSP000003792044STRING: ENSP00000379204
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for BMPER gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BMPER
    Search CenterWatch for drugs/clinical trials and news about BMPER 

    Transcripts
    for BMPER gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone: BMPER
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMPER
    8/22 QIAGEN miScript miRNA 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 plasmid: BMPER 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BMPER (see all 6)
    OriGene siRNA: BMPER
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BMPER
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BMPER (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for BMPER
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BMPER
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BMPER
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BMPER

    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/28 AceView cDNA sequences (see all 28):

    BC060868 CR609827 BX380517 NM_133468 AA649871 BM907459 CA449661 BQ005555 
    BX952325 BX348332 BX348331 AW779103 BU689099 AV723284 AB075845 CB856815 
    BE743889 BX102594 AY324650 AI423201 AA142989 BF999553 CB856814 BF997956 

    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

    Expression
    for BMPER gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BMPER expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATAAAATGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BMPER expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    OvaryAntral FollicleCumulus CellsOvary
    BrainHypothalamusBrain
    BrainThalamusBrain
    KidneyRenal VesicleKidney
    Neural TubeDiencephalic Ventricular ZoneNeural Tube
    Neural TubeDiencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    SomiteLumbar Vertebral BodySomite
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    Definitive endoderm-like cells (Generation and expan...)
    Endoderm progenitor-like cells (Generation and expan...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Extraembryonic endoderm-like cells (Generation of extrae...)
    Mesoderm-like cells (Derivation of cardio...)
    DKK1-induced cells (Derivation of cardio...)
    Cartilage-like cells (Differentiation of s...)Cartilage

    See BMPER Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BMPER

    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

        SABiosciences Expression via Pathway-Focused PCR Array including BMPER: 
              TGFB/BMP Signaling Pathway in human mouse rat

    Primer
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    QIAGEN 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
    for BMPER gene

    (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
    This gene was present in the common ancestor of animals.

    Orthologs for BMPER gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 86(a)
    		 1 ↔ 1
    		 6(45784409-45937482)
    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 64.9(n)
    65.71(a)    		   338246  NM_001020487.1  NP_001018323.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta cv-21 crossveinless 2 46.8(n)
    37.18(a)    		   45280  NM_080070.3  NP_524809.2 


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

    Paralogs
    for BMPER gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BMPER gene
    MUC5AC2  TECTA2  OTOG2  MUC22  OTOGL2  MUC62  MUC5B2  MUC192  
    FCGBP2  VWF2  
    1 SIMAP similar gene for BMPER using alignment to 4 protein entries:     BMPER_HUMAN (see all proteins):
    KCP

    BMPER for paralogs           About GeneDecksing



    Genomic Variants
    for BMPER gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4094 NCBI SNPs in BMPER are shown (see all 4094)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs113764861,2
    		C,--33942534(+) ACTTG-/AAGGGG 1 -- us2k1 tfbs31Minor allele frequency- A:0.50NA 2
    rs1867855131,2
    		--33943113(+) ACTGAC/TTGTAC 1 -- us2k10--------
    rs1921834581,2
    		--33943184(+) TTAATA/GAGTCC 1 -- us2k10--------
    rs1837897041,2
    		--33943188(+) TGAGTC/TCCTGG 1 -- us2k10--------
    rs1880414091,2
    		--33943312(+) GGGGGA/GAGGGA 1 -- us2k10--------
    rs1914021361,2
    		--33943461(+) CATCAA/GCTCCT 1 -- us2k10--------
    rs1426519671,2
    		--33943479(+) TCGCG-/ATG   
      TTGGCA    ATGTT     		1 -- us2k10--------
    rs1824794901,2
    		--33943650(+) TTGCCA/TGGAGA 1 -- us2k10--------
    rs1497982771,2
    		--33943704(+) AGAGGA/GAGTCG 1 -- us2k10--------
    rs1869931081,2
    		--33943769(+) CCAAGC/TGTCCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BMPER (33944523 - 34194523 bp, first 250kb of BMPER)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BMPER
         1 Indel: 59406
    Human Gene Mutation Database (HGMD): BMPER

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BMPER
    DNA2.0 Custom Variant and Variant Library Synthesis for BMPER

    Disorders / Diseases
    for BMPER gene

    (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
    BMPER for disorders           About GeneDecksing

    OMIM gene information: 608699    OMIM disorders: --

    UniProtKB/Swiss-Prot: BMPER_HUMAN, Q8N8U9
  • Defects in BMPER are the cause of 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

    8 diseases for BMPER:    About MalaCards
    hypoplastic left heart syndrome    spondylocostal dysostosis    diaphanospondylodysostosis    dysostosis
    cystic kidney    hepatitis c    hepatitis b    hepatitis

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

    Export disorders for BMPER gene to outside databases

    Publications
    for BMPER gene

    (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

    PubMed articles for BMPER gene, integrated from 9 sources (see all 22):
    (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. (2004)
    2. BMPER mutation in diaphanospondylodysostosis identifi ed by ancestral autozygosity mapping and targeted high-throughput sequencing. (PubMed id 20869035)1, 2 Funari V.A....Cohn D.H. (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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2001)
    7. Bone morphogenetic protein modulator BMPER is highly e xpressed in malignant tumors and controls invasive cell behavior. (PubMed id 22020334)1 Heinke J....Moser M. (2012)
    8. Crossveinless 2 regulates bone morphogenetic protein 9 in human and mouse vascular endothelium. (PubMed id 22474252)1 Yao Y....Bostrom K.I. (2012)
    9. Osteoblast-like differentiation of cultured human coro nary artery smooth muscle cells by bone morphogenetic protein endothelial cell p recursor-derived regulator (BMPER). (PubMed id 22778264)1 Satomi-Kobayashi S....Rikitake Y. (2012)
    10. Bmper inhibits endothelial expression of inflammatory adhesion molecules and protects against atherosclerosis. (PubMed id 22772758)1 Pi X....Patterson C. (2012)

    External Searches for BMPER gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing BMPER gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 168667 HGNC: 24154 AceView: BMPER Ensembl:ENSG00000164619 euGenes: HUgn168667
    ECgene: BMPER H-InvDB: BMPER

    Other Databases showing BMPER gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1965

    Specialized Databases showing BMPER gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BMPER Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for BMPER gene

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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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