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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 3
  • Crossveinless-2 2
  • 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for BMPER Gene

Promoters and enhancers for BMPER Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J033903 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.1 -64 2.3 SIN3A FEZF1 ZNF335 GLIS2 SP3 REST ZNF398 GLIS1 ZNF24 ZBTB26 BMPER GC07P033884
GH07J033932 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.4 +29.0 28996 3.4 CTCF ZBTB6 RAD21 RFX5 TEAD3 GATA3 POLR2A SMC3 ZNF143 PRDM10 BMPER GC07M033968
GH07J033985 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 8.7 +82.1 82117 3 ESRRA JUN RFX5 FOSL1 CTBP1 GATA3 ZNF366 POLR2A FOSL2 FOS BMPER GC07M033968 GC07P034019
GH07J033764 Enhancer 1 Ensembl ENCODE 10.9 -139.9 -139940 1.8 PKNOX1 ARNT FEZF1 RFX5 ZNF213 EGR1 ZNF366 RCOR1 KLF13 ZNF174 ENSG00000227481 FLJ20712 BMPER GC07M033786
GH07J034058 Enhancer 1.6 VISTA Ensembl ENCODE dbSUPER 6.6 +155.9 155871 4.9 RAD21 BRCA1 RFX5 SMARCC2 FOS DEK SMARCC1 CEBPB REST SP1 BMPER GC07P034019 GC07P034165
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMPER on UCSC Golden Path with GeneCards custom track

Genomic Locations for BMPER Gene

Genomic Locations for BMPER Gene
250,962 bases
Plus strand
250,962 bases
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:
    Recommended name:
    BMP-binding endothelial regulator protein
    Protein Accession:
    Secondary Accessions:
    • A8K1P8
    • Q8TF36

    Protein attributes for BMPER Gene

    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=441441, posLast=318318, Asn255, posLast=247247, and posLast=116116
  • 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
  • Boster Bio Antibodies for BMPER

No data available for DME Specific Peptides for BMPER Gene

Domains & Families for BMPER Gene

Gene Families for BMPER Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

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 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.

Phenotypes From GWAS Catalog for BMPER Gene

Gene Ontology (GO) - Molecular Function for BMPER Gene

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BMPER Gene

Localization for BMPER Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMPER Gene


Subcellular locations from

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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: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 and SIGNOR curated interactions for BMPER Gene

Drugs & Compounds for BMPER Gene

No Compound Related Data Available

Transcripts for BMPER Gene

Unigene Clusters for BMPER Gene

BMP binding endothelial regulator:
Representative Sequences:

Clone 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
ECgene alternative splicing isoforms for

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 and MOPED for BMPER Gene

Protein tissue co-expression partners for BMPER Gene

NURSA nuclear receptor signaling pathways regulating expression of BMPER Gene:


SOURCE GeneReport for Unigene cluster for BMPER Gene:


mRNA Expression by UniProt/SwissProt for BMPER Gene:

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(2.2)

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

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

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
(Pan troglodytes)
Mammalia BMPER 34 33
  • 99.57 (n)
(Canis familiaris)
Mammalia BMPER 34 33
  • 92.08 (n)
(Bos Taurus)
Mammalia BMPER 34 33
  • 91.63 (n)
(Mus musculus)
Mammalia Bmper 16 34 33
  • 87.83 (n)
(Rattus norvegicus)
Mammalia Bmper 33
  • 87.79 (n)
(Ornithorhynchus anatinus)
Mammalia BMPER 34
  • 86 (a)
(Monodelphis domestica)
Mammalia BMPER 34
  • 86 (a)
(Gallus gallus)
Aves BMPER 34 33
  • 78.59 (n)
(Anolis carolinensis)
Reptilia BMPER 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bmper 33
  • 74.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15123 33
(Danio rerio)
Actinopterygii bmper 34 33
  • 64.75 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006168 33
  • 48.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta cv-2 34 33
  • 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

Gene Tree for BMPER (if available)
Gene Tree for BMPER (if available)
Evolutionary constrained regions (ECRs) for BMPER: view image

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 Variation AA Info Type
rs1012601193 uncertain-significance, Diaphanospondylodysostosis 33,905,095(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs10249320 uncertain-significance, Diaphanospondylodysostosis 34,086,010(+) C/T coding_sequence_variant, missense_variant
rs10265207 benign, Diaphanospondylodysostosis 33,970,334(+) C/T 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1035193502 uncertain-significance, Diaphanospondylodysostosis 34,154,940(+) G/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs112890951 likely-benign, Diaphanospondylodysostosis 33,905,074(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

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)

Additional Variant Information for BMPER Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for BMPER Gene

MalaCards: The human disease database

(4) MalaCards diseases for BMPER Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
  • vertebral ossification, defect in, with nephrogenic rests
ischio-vertebral syndrome
  • ischio-spinal dysostosis
retinitis pigmentosa 18
  • rp18
- elite association - COSMIC cancer census association via MalaCards
Search BMPER in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for 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 ME … Rupp F (Biochemical and biophysical research communications 2004) 2 3 4 22 58
  2. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. (PMID: 20869035) Funari VA … Cohn DH (American journal of human genetics 2010) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. BMPER, a novel endothelial cell precursor-derived protein, antagonizes bone morphogenetic protein signaling and endothelial cell differentiation. (PMID: 12897139) Moser M … Patterson C (Molecular and cellular biology 2003) 2 3 58

Products for BMPER Gene

Sources for BMPER Gene

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