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Aliases for BMPER Gene

Aliases for BMPER Gene

  • BMP Binding Endothelial Regulator 2 3 5
  • Bone Morphogenetic Protein-Binding Endothelial Cell Precursor-Derived Regulator 3 4
  • Crossveinless-2 2 3
  • HCV2 3 4
  • BMP-Binding Endothelial Regulator Precursor Protein 3
  • Protein Crossveinless-2 4
  • Crossveinless 2 3
  • KIAA1965 4
  • CRIM3 3
  • CV-2 3
  • CV2 3

External Ids for BMPER Gene

Previous GeneCards Identifiers for BMPER Gene

  • GC07P033653
  • GC07P033686
  • GC07P033717
  • GC07P033911
  • GC07P033825

Summaries for BMPER Gene

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 acid-labile subunit, deficiency of. An important paralog of this gene is KCP.

UniProtKB/Swiss-Prot for BMPER Gene

  • Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes.

Gene Wiki entry for BMPER Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMPER Gene

Genomics for BMPER Gene

Regulatory Elements for BMPER Gene

Promoters for BMPER Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BMPER on UCSC Golden Path with GeneCards custom track

Genomic Location for BMPER Gene

Chromosome:
7
Start:
33,904,911 bp from pter
End:
34,155,872 bp from pter
Size:
250,962 bases
Orientation:
Plus strand

Genomic View for BMPER Gene

Genes around BMPER on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMPER Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMPER Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMPER Gene

Proteins for BMPER Gene

  • Protein details for BMPER Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8U9-BMPER_HUMAN
    Recommended name:
    BMP-binding endothelial regulator protein
    Protein Accession:
    Q8N8U9
    Secondary Accessions:
    • A8K1P8
    • Q8TF36

    Protein attributes for BMPER Gene

    Size:
    685 amino acids
    Molecular mass:
    75997 Da
    Quaternary structure:
    • Interacts with BMP4.

neXtProt entry for BMPER Gene

Proteomics data for BMPER Gene at MOPED

Post-translational modifications for BMPER Gene

  • Glycosylation at Asn 116, Asn 247, Asn 255, Asn 318, and Asn 441
  • Modification sites at PhosphoSitePlus

Other Protein References for BMPER Gene

Antibody Products

  • R&D Systems Antibodies for BMPER (Crossveinless-2/CV-2)

No data available for DME Specific Peptides for BMPER Gene

Domains & Families for BMPER Gene

Suggested Antigen Peptide Sequences for BMPER Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N8U9

UniProtKB/Swiss-Prot:

BMPER_HUMAN :
  • Contains 1 TIL (trypsin inhibitory-like) domain.
Domain:
  • Contains 1 TIL (trypsin inhibitory-like) domain.
  • Contains 5 VWFC domains.
  • Contains 1 VWFD domain.
genes like me logo Genes that share domains with BMPER: view

No data available for Gene Families for BMPER Gene

Function for BMPER Gene

Molecular function for BMPER Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes.
genes like me logo Genes that share phenotypes with BMPER: view

Human Phenotype Ontology for BMPER Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMPER Gene

MGI Knock Outs for BMPER:

Animal Model Products

  • Taconic Biosciences Mouse Models for BMPER

miRNA for BMPER Gene

miRTarBase miRNAs that target BMPER

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for BMPER Gene

Localization for BMPER Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMPER Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BMPER Gene COMPARTMENTS Subcellular localization image for BMPER gene
Compartment Confidence
extracellular 5
plasma membrane 3
endoplasmic reticulum 1
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for BMPER Gene

Pathways & Interactions for BMPER Gene

SuperPathways for BMPER Gene

No Data Available

Gene Ontology (GO) - Biological Process for BMPER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0010594 regulation of endothelial cell migration IDA 18787191
GO:0030514 negative regulation of BMP signaling pathway IEA,TAS 18787191
GO:0045446 endothelial cell differentiation IEA --
GO:0048839 inner ear development IEA --
genes like me logo Genes that share ontologies with BMPER: view

No data available for Pathways by source and SIGNOR curated interactions for BMPER Gene

Drugs & Compounds for BMPER Gene

(1) Drugs for BMPER Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tenofovir Approved, Investigational Pharma HIV reverse transcriptase inhibitor 666
genes like me logo Genes that share compounds with BMPER: view

Transcripts for BMPER Gene

Unigene Clusters for BMPER Gene

BMP binding endothelial regulator:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BMPER Gene

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

Relevant External Links for BMPER Gene

GeneLoc Exon Structure for
BMPER
ECgene alternative splicing isoforms for
BMPER

Expression for BMPER Gene

mRNA expression in normal human tissues for BMPER Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BMPER Gene

This gene is overexpressed in Amniocyte (62.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BMPER Gene



SOURCE GeneReport for Unigene cluster for BMPER Gene Hs.660998

mRNA Expression by UniProt/SwissProt for BMPER Gene

Q8N8U9-BMPER_HUMAN
Tissue specificity: Highly expressed in lung, and brain and also in primary chondrocytes.
genes like me logo Genes that share expression patterns with BMPER: view

Protein tissue co-expression partners for BMPER Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for BMPER Gene

Orthologs for BMPER Gene

This gene was present in the common ancestor of animals.

Orthologs for BMPER Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMPER 36
  • 100 (a)
OneToOne
BMPER 35
  • 99.57 (n)
  • 99.68 (a)
cow
(Bos Taurus)
Mammalia BMPER 35
  • 91.63 (n)
  • 94.74 (a)
BMPER 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMPER 36
  • 88 (a)
OneToOne
BMPER 35
  • 92.08 (n)
  • 95.6 (a)
mouse
(Mus musculus)
Mammalia Bmper 36
  • 93 (a)
OneToOne
Bmper 16
Bmper 35
  • 87.83 (n)
  • 92.7 (a)
oppossum
(Monodelphis domestica)
Mammalia BMPER 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMPER 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmper 35
  • 87.79 (n)
  • 92.99 (a)
chicken
(Gallus gallus)
Aves BMPER 35
  • 78.59 (n)
  • 82.78 (a)
BMPER 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMPER 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15123 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bmper 35
  • 74.17 (n)
  • 80.18 (a)
zebrafish
(Danio rerio)
Actinopterygii bmper 35
  • 64.75 (n)
  • 65.56 (a)
bmper 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006168 35
  • 48.27 (n)
  • 40.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta cv-2 35
  • 47.03 (n)
  • 37.52 (a)
cv-2 36
  • 30 (a)
OneToMany
Species with no ortholog for BMPER:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BMPER Gene

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

Paralogs for BMPER Gene

Paralogs for BMPER Gene

genes like me logo Genes that share paralogs with BMPER: view

Variants for BMPER Gene

Sequence variations from dbSNP and Humsavar for BMPER Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10249320 - 34,086,010(+) AGCTC(C/T)GGGCC nc-transcript-variant, reference, missense
VAR_065823 Diaphanospondylodysostosis (DSD)
rs757640 -- 34,111,445(+) TTGGC(C/T)GAGGC intron-variant
rs720799 -- 33,932,246(+) AAGCT(C/G)CTCCC intron-variant
rs720837 -- 34,113,671(-) CCTGG(C/T)GCATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BMPER Gene

Variant ID Type Subtype PubMed ID
dgv1127e201 CNV Deletion 23290073
nsv436907 CNV Insertion 17901297
nsv830947 CNV Gain 17160897
nsv887926 CNV Loss 21882294
nsv819996 CNV Gain 19587683
esv1009646 CNV Deletion 20482838
nsv830949 CNV Gain 17160897
nsv523931 CNV Loss 19592680

Variation tolerance for BMPER Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMPER Gene

HapMap Linkage Disequilibrium report
BMPER
Human Gene Mutation Database (HGMD)
BMPER

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPER Gene

Disorders for BMPER Gene

MalaCards: The human disease database

(2) MalaCards diseases for BMPER Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
diaphanospondylodysostosis
  • defect in vertebral ossification with nephrogenic rests
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards
Search BMPER in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BMPER_HUMAN
  • 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. {ECO:0000269 PubMed:20869035}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BMPER

Genetic Association Database (GAD)
BMPER
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMPER
genes like me logo Genes that share disorders with BMPER: view

No data available for Genatlas for BMPER Gene

Publications for BMPER Gene

  1. Human Crossveinless-2 is a novel inhibitor of bone morphogenetic proteins. (PMID: 14766204) Binnerts M.E. … Rupp F. (Biochem. Biophys. Res. Commun. 2004) 2 3 4 23 67
  2. BMPER, a novel endothelial cell precursor-derived protein, antagonizes bone morphogenetic protein signaling and endothelial cell differentiation. (PMID: 12897139) Moser M. … Patterson C. (Mol. Cell. Biol. 2003) 2 3
  3. Fibroblast growth factor signaling pathway in endothelial cells is activated by BMPER to promote angiogenesis. (PMID: 25503991) Esser J.S. … Moser M. (Arterioscler. Thromb. Vasc. Biol. 2015) 3
  4. ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. (PMID: 24770881) Nelson P.T. … Fardo D.W. (Acta Neuropathol. 2014) 3
  5. Antagonism and synergy between extracellular BMP modulators Tsg and BMPER balance blood vessel formation. (PMID: 23641068) Heinke J. … Moser M. (J. Cell. Sci. 2013) 3

Products for BMPER Gene

Sources for BMPER Gene

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