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

    Gene ID: 168667, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Diaphanospondylodysostosis
    MedGen: C1842691 OMIM: 608022 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001365308.1NP_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:166224
      VWC; von Willebrand factor type C domain
      pfam00094
      Location:364508
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:629682
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:560624
      C8; C8 domain
      cl17735
      Location:301357
      VWC; von Willebrand factor type C domain
    2. NM_001410872.1NP_001397801.1  BMP-binding endothelial regulator protein isoform b

      Status: REVIEWED

      Source sequence(s)
      AC007350, AC010002
      Consensus CDS
      CCDS94083.1
      UniProtKB/TrEMBL
      A0A3B3ISL7, A0A3B3ITW7
      Related
      ENSP00000497963.1, ENST00000648848.1
    3. NM_133468.5NP_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:166224
      VWC; von Willebrand factor type C domain
      pfam00094
      Location:364508
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:629682
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:560624
      C8; C8 domain
      cl17735
      Location:301357
      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_047419939.1XP_047275895.1  BMP-binding endothelial regulator protein isoform X1

      UniProtKB/TrEMBL
      A0A3B3IUC5

    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_054357397.1XP_054213372.1  BMP-binding endothelial regulator protein isoform X1

      UniProtKB/TrEMBL
      A0A3B3IUC5