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BMPER BMP binding endothelial regulator [ Homo sapiens (human) ]

Gene ID: 168667, updated on 3-Apr-2024

Summary

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Official Symbol
BMPERprovided by HGNC
Official Full Name
BMP binding endothelial regulatorprovided by HGNC
Primary source
HGNC:HGNC:24154
See related
Ensembl:ENSG00000164619 MIM:608699; AllianceGenome:HGNC:24154
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CV2; CV-2; CRIM3
Summary
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]
Expression
Broad expression in prostate (RPKM 4.5), brain (RPKM 3.2) and 19 other tissues See more
Orthologs
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Genomic context

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See BMPER in Genome Data Viewer
Location:
7p14.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (33904915..34156427)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (34044656..34296293)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (33944527..34196039)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901612 Neighboring gene uncharacterized LOC124901613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25836 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:33972520-33972786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34033417-34034047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34034048-34034677 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:34074011-34075210 Neighboring gene VISTA enhancer hs1336 Neighboring gene NANOG hESC enhancer GRCh37_chr7:34115590-34116091 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34214913-34215520 Neighboring gene NANOG hESC enhancer GRCh37_chr7:34251459-34251988 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:34258701-34259255 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:34264670-34265500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25837 Neighboring gene RNA, U6 small nuclear 438, pseudogene Neighboring gene NPSR1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:34476732-34476921 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34553347-34553924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:34592037-34592538 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:34691494-34692079 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:34694009-34695208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:34699869-34700706 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34701543-34702378 Neighboring gene neuropeptide S receptor 1 Neighboring gene ribosomal protein L7 pseudogene 31

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review. Batey N, et al. Eur J Med Genet, 2022 Apr. PMID 35240322
  2. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process. Braun F, et al. Mol Genet Genomic Med, 2021 Dec. PMID 34288564, Free PMC Article
  3. Overexpression of BMPER in Ovarian Cancer and the Mechanism by which It Promotes Malignant Biological Behavior in Tumor Cells. Xi Y, et al. Biomed Res Int, 2020. PMID 32309430, Free PMC Article
  4. Diagnostic and Prognostic Values of BMPER in Patients with Urosepsis following Ureteroscopic Lithotripsy. Xu CG, et al. Biomed Res Int, 2019. PMID 30800678, Free PMC Article
  5. Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder. Greenbaum L, et al. Eur J Med Genet, 2019 Mar. PMID 30006055

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BMPER is a marker of adipose progenitors and adipocytes and a positive modulator of adipogenesis.
    Title: BMPER is a marker of adipose progenitors and adipocytes and a positive modulator of adipogenesis.
  2. IL-6/Stat3 suppresses osteogenic differentiation in ossification of the posterior longitudinal ligament via miR-135b-mediated BMPER reduction.
    Title: IL-6/Stat3 suppresses osteogenic differentiation in ossification of the posterior longitudinal ligament via miR-135b-mediated BMPER reduction.
  3. BMPER alleviates ischemic brain injury by protecting neurons and inhibiting neuroinflammation via Smad3-Akt-Nrf2 pathway.
    Title: BMPER alleviates ischemic brain injury by protecting neurons and inhibiting neuroinflammation via Smad3-Akt-Nrf2 pathway.
  4. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.
    Title: Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.
  5. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
    Title: Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
  6. Integrated In Silico-In Vitro Identification and Optimization of Bone Morphogenic Protein-2 Armpit Epitope as Its Antagonist Binding Site.
    Title: Integrated In Silico-In Vitro Identification and Optimization of Bone Morphogenic Protein-2 Armpit Epitope as Its Antagonist Binding Site.
  7. Overexpression of BMPER in Ovarian Cancer and the Mechanism by which It Promotes Malignant Biological Behavior in Tumor Cells.
    Title: Overexpression of BMPER in Ovarian Cancer and the Mechanism by which It Promotes Malignant Biological Behavior in Tumor Cells.
  8. Internal cleavage and synergy with TWSG1 enhance BMP-4 inhibition by BMPER.
    Title: Internal cleavage and synergy with twisted gastrulation enhance BMP inhibition by BMPER.
  9. BMPER possesses valuable discriminative capacity for urosepsis and is a strong predictor of adverse outcome in patients with urosepsis.
    Title: Diagnostic and Prognostic Values of BMPER in Patients with Urosepsis following Ureteroscopic Lithotripsy.
  10. A novel homozygous mutation in BMPER (c.410T>A; p.Val137Asp) was found in three fetuses with diaphanospondylodysostosis.
    Title: Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Diaphanospondylodysostosis
MedGen: C1842691 OMIM: 608022 GeneReviews: Not available
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EBI GWAS Catalog

Description
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in SMAD protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in blood vessel development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in endothelial cell activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inner ear development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of sprouting angiogenesis IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in regulation of angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in ureteric bud development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
BMP-binding endothelial regulator protein
Names
BMP-binding endothelial regulator precursor protein
bone morphogenetic protein-binding endothelial cell precursor-derived regulator
crossveinless 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031933.1 RefSeqGene

    Range
    5629..256517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1276

mRNA and Protein(s)

  1. NM_001365308.1 → NP_001352237.1  BMP-binding endothelial regulator protein isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AC007350, AC010002
    Consensus CDS
    CCDS5442.1
    UniProtKB/Swiss-Prot
    A8K1P8, Q8N8U9, Q8TF36
    UniProtKB/TrEMBL
    A0A090N7U6, A0A3B3ITY4
    Related
    ENSP00000497748.1, ENST00000649409.2
    Conserved Domains (5) summary
    pfam00093
    Location:166 → 224
    VWC; von Willebrand factor type C domain
    pfam00094
    Location:364 → 508
    VWD; von Willebrand factor type D domain
    pfam01826
    Location:629 → 682
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:560 → 624
    C8; C8 domain
    cl17735
    Location:301 → 357
    VWC; von Willebrand factor type C domain

  2. NM_001410872.1 → NP_001397801.1  BMP-binding endothelial regulator protein isoform b precursor

    Status: REVIEWED

    Source sequence(s)
    AC007350, AC010002
    Consensus CDS
    CCDS94083.1
    UniProtKB/TrEMBL
    A0A3B3ITW7
    Related
    ENSP00000497963.1, ENST00000648848.1

  3. NM_133468.5 → NP_597725.1  BMP-binding endothelial regulator protein isoform a precursor

    See identical proteins and their annotated locations for NP_597725.1

    Status: REVIEWED

    Source sequence(s)
    AB075845, AC007350, AY324650, BC060868, DB322218
    Consensus CDS
    CCDS5442.1
    UniProtKB/Swiss-Prot
    A8K1P8, Q8N8U9, Q8TF36
    UniProtKB/TrEMBL
    A0A090N7U6, A0A3B3ITY4
    Related
    ENSP00000297161.2, ENST00000297161.6
    Conserved Domains (5) summary
    pfam00093
    Location:166 → 224
    VWC; von Willebrand factor type C domain
    pfam00094
    Location:364 → 508
    VWD; von Willebrand factor type D domain
    pfam01826
    Location:629 → 682
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:560 → 624
    C8; C8 domain
    cl17735
    Location:301 → 357
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    33904915..34156427
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419939.1 → XP_047275895.1  BMP-binding endothelial regulator protein isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    34044656..34296293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357397.1 → XP_054213372.1  BMP-binding endothelial regulator protein isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N8U9.3 GenPept UniProtKB/Swiss-Prot:Q8N8U9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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