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Aliases for BMPER Gene

Aliases for BMPER Gene

  • BMP Binding Endothelial Regulator 2 3
  • Bone Morphogenetic Protein-Binding Endothelial Cell Precursor-Derived Regulator 3 4
  • Crossveinless-2 2 3
  • HCV2 3 4
  • CV2 3 6
  • BMP-Binding Endothelial Regulator Precursor Protein 3
  • BMP-Binding Endothelial Regulator Protein 3
  • Protein Crossveinless-2 4
  • Crossveinless 2 3
  • KIAA1965 4
  • CRIM3 3
  • CV-2 3

External Ids for BMPER Gene

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 spondylocostal dysostosis. An important paralog of this gene is OTOGL.

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

Genomic Location for BMPER Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BMPER Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMPER Gene

No data available for Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn116, Asn247, Asn255, Asn318, and Asn441

Other Protein References for BMPER Gene

No data available for DME Specific Peptides for BMPER Gene

Domains for BMPER Gene

UniProtKB/Swiss-Prot:

BMPER_HUMAN
Domain:
  • Contains 1 TIL (trypsin inhibitory-like) domain.:
    • Q8N8U9
  • Contains 5 VWFC domains.:
    • Q8N8U9
  • Contains 1 VWFD domain.:
    • Q8N8U9
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.

Gene Ontology (GO) - Molecular Function for BMPER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with BMPER: view
genes like me logo Genes that share phenotypes with BMPER: view

Animal Models for BMPER Gene

MGI Knock Outs for BMPER:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
nucleus 1

Gene Ontology (GO) - Cellular Components for BMPER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space IDA 18787191
genes like me logo Genes that share ontologies with BMPER: view

Pathways 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:0002043 blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA 18787191
GO:0010594 regulation of endothelial cell migration IDA 18787191
GO:0030514 negative regulation of BMP signaling pathway TAS 18787191
GO:0042118 endothelial cell activation IDA 18787191
genes like me logo Genes that share ontologies with BMPER: view

No data available for Pathways by source for BMPER Gene

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

Integrated Proteomics: protein expression 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 expressions with BMPER: view

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
  • 99.57 (n)
  • 99.68 (a)
BMPER 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BMPER 36
  • 91.63 (n)
  • 94.74 (a)
BMPER 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMPER 36
  • 92.08 (n)
  • 95.6 (a)
BMPER 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmper 36
  • 87.83 (n)
  • 92.7 (a)
Bmper 16
Bmper 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BMPER 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMPER 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmper 36
  • 87.79 (n)
  • 92.99 (a)
chicken
(Gallus gallus)
Aves BMPER 36
  • 78.59 (n)
  • 82.78 (a)
BMPER 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMPER 37
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15123 36
tropical clawed frog
(Silurana tropicalis)
Amphibia bmper 36
  • 74.17 (n)
  • 80.18 (a)
zebrafish
(Danio rerio)
Actinopterygii bmper 36
  • 64.75 (n)
  • 65.56 (a)
bmper 37
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006168 36
  • 48.27 (n)
  • 40.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta cv-2 36
  • 47.03 (n)
  • 37.52 (a)
cv-2 37
  • 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 MAF
rs363856 -- 34,022,431(+) CACGT(-/G)GGAAA intron-variant
rs716849 -- 33,932,021(+) TTGCT(G/T)TATGA intron-variant
rs720799 -- 33,932,246(+) AAGCT(C/G)CTCCC intron-variant
rs720837 -- 34,113,671(-) CCTGG(C/T)GCATG intron-variant
rs729630 -- 34,058,078(+) GTCCT(C/T)TATCA reference, missense, nc-transcript-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

Relevant External Links for BMPER Gene

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

Disorders for BMPER Gene

(1) OMIM Diseases for BMPER Gene (608699)

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.

(1) University of Copenhagen DISEASES for BMPER Gene

Relevant External Links for BMPER

Genetic Association Database (GAD)
BMPER
genes like me logo Genes that share disorders with BMPER: view

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
  2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T. … Ohara O. (DNA Res. 2001) 3 4
  3. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. (PMID: 20869035) Funari V.A. … Cohn D.H. (Am. J. Hum. Genet. 2010) 3 4
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for BMPER Gene

Sources for BMPER Gene

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