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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
  • HCV2 3 4
  • BMP-Binding Endothelial Regulator Precursor Protein 3
  • BMP-Binding Endothelial Regulator Protein 3
  • Protein Crossveinless-2 4
  • Crossveinless-2 2
  • 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 Ischio-Vertebral Syndrome. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMPER Gene

Genomics for BMPER Gene

Regulatory Elements for BMPER Gene

Enhancers for BMPER Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G033932 1.3 Ensembl ENCODE dbSUPER 11.4 +29.0 28997 3.4 CTCF TEAD4 SIN3A RAD21 RFX5 TEAD3 ZNF143 SMC3 FOS PRDM10 BMPER GC07M033968
GH07G033985 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.7 +82.1 82118 3.0 ESRRA JUN SIN3A RAD21 RFX5 FOSL1 CTBP1 GATA3 GATA2 ZNF366 BMPER GC07M033968 GC07P034019
GH07G033764 1.1 Ensembl ENCODE 10.9 -139.9 -139941 1.8 PKNOX1 ARNT FEZF1 RFX5 GATA2 ZNF366 RCOR1 FOS ZNF174 USF2 ENSG00000227481 FLJ20712 BMPER GC07M033786
GH07G034058 1.8 VISTA Ensembl ENCODE dbSUPER 6.6 +155.9 155871 4.9 TBP SIN3A RAD21 BRCA1 RFX5 GATA2 SMARCC2 FOS DEK SMARCC1 BMPER GC07P034019 GC07P034165
GH07G034132 1.5 FANTOM5 Ensembl ENCODE dbSUPER 7.9 +228.9 228895 2.4 GTF2F1 CTCF ZNF654 RFX1 CEBPB RAD21 JUND SMC3 ZNF143 FOS BMPER GC07P034165 GC07P034019
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BMPER on UCSC Golden Path with GeneCards custom track

Promoters for BMPER Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000210686 189 1801 SIN3A FEZF1 RAD21 GLIS2 ZNF263 SP3 ZNF398 SMARCA4 GLIS1 ZNF24

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

Post-translational modifications for BMPER Gene

  • Glycosylation at posLast=116116, posLast=247247, posLast=255255, posLast=318318, and posLast=441441
  • Modification sites at PhosphoSitePlus

Other Protein References for BMPER Gene

Antibody Products

  • R&D Systems Antibodies for BMPER (Crossveinless-2/CV-2)
  • Abcam antibodies for BMPER
  • Cloud-Clone Corp. Antibodies for BMPER

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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMPER gene
Compartment Confidence
extracellular 5
plasma membrane 3
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BMPER Gene

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

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: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 IEA,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 and SIGNOR curated interactions for BMPER Gene

Transcripts for BMPER Gene

Unigene Clusters for BMPER Gene

BMP binding endothelial regulator:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for BMPER Gene

NURSA nuclear receptor signaling pathways regulating expression of BMPER Gene:

BMPER

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.

Evidence on tissue expression from TISSUES for BMPER Gene

  • Nervous system(4.4)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BMPER Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
General:
  • lymph vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with BMPER: view

Primer 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 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia BMPER 34 35
  • 92.08 (n)
cow
(Bos Taurus)
Mammalia BMPER 34 35
  • 91.63 (n)
mouse
(Mus musculus)
Mammalia Bmper 34 16 35
  • 87.83 (n)
rat
(Rattus norvegicus)
Mammalia Bmper 34
  • 87.79 (n)
oppossum
(Monodelphis domestica)
Mammalia BMPER 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMPER 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMPER 34 35
  • 78.59 (n)
lizard
(Anolis carolinensis)
Reptilia BMPER 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmper 34
  • 74.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15123 34
zebrafish
(Danio rerio)
Actinopterygii bmper 34 35
  • 64.75 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006168 34
  • 48.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta cv-2 34 35
  • 47.03 (n)
Species where no ortholog for BMPER was found in the sources mined by GeneCards:
  • 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
rs387906993 Pathogenic, Diaphanospondylodysostosis (DSD) [MIM:608022] 34,078,887(+) AGATC(C/T)CCACT intron-variant, reference, missense
rs387906992 Pathogenic 34,055,301(+) TTTTC(C/T)AGGTA reference, stop-gained
rs387906994 Pathogenic 34,085,985(+) CTGTG(A/T)CAAGG reference, stop-gained
rs112890951 Likely benign 33,905,074(+) GCCCG(A/G)TGAGC upstream-variant-2KB, utr-variant-5-prime
rs113711026 Likely benign 33,905,148(+) AGGTG(A/G)GGAGT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1080e201 CNV deletion 23290073
dgv1279e214 CNV loss 21293372
dgv1881e212 CNV loss 25503493
esv1009646 CNV deletion 20482838
esv2762663 CNV gain 21179565
esv3612750 OTHER inversion 21293372
esv3612772 CNV loss 21293372
esv3612778 CNV loss 21293372
esv3612779 CNV gain 21293372
esv3612781 CNV loss 21293372
esv3612782 CNV gain 21293372
esv3612784 CNV loss 21293372
esv3612785 CNV gain 21293372
esv3612788 CNV gain 21293372
esv3891097 CNV gain 25118596
nsv1024493 CNV loss 25217958
nsv1075023 CNV deletion 25765185
nsv1133403 CNV tandem duplication 24896259
nsv1135982 CNV deletion 24896259
nsv436907 CNV insertion 17901297
nsv472272 CNV novel sequence insertion 20440878
nsv523931 CNV loss 19592680
nsv819996 CNV gain 19587683
nsv830947 CNV gain 17160897
nsv830949 CNV gain 17160897

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

Human Gene Mutation Database (HGMD)
BMPER
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
ischio-vertebral syndrome
  • ischio-spinal dysostosis
- 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 22 64
  2. 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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. 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 64

Products for BMPER Gene

Sources for BMPER Gene

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