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

Gene ID: 168667, updated on 4-Nov-2022

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
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Genomic context

See BMPER in Genome Data Viewer
Location:
7p14.3
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (33904915..34156427)
110 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 VISTA enhancer hs1336 Neighboring gene RNA, U6 small nuclear 438, pseudogene Neighboring gene NPSR1 antisense RNA 1 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

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_001365308.1NP_001352237.1  BMP-binding endothelial regulator protein isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AC007350, AC010002
    Consensus CDS
    CCDS5442.1
    UniProtKB/Swiss-Prot
    Q8TF36
    UniProtKB/TrEMBL
    A0A090N7U6
    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
    A0A3B3ITW7
  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
    Q8N8U9, Q8TF36
    UniProtKB/TrEMBL
    A0A090N7U6
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005249633.4XP_005249690.1  BMP-binding endothelial regulator protein isoform X1

    Related
    ENSP00000497963.1, ENST00000648848.1
    Conserved Domains (5) summary
    pfam00093
    Location:166224
    VWC; von Willebrand factor type C domain
    pfam01826
    Location:519572
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:446514
    C8; C8 domain
    cl02516
    Location:361398
    VWD; von Willebrand factor type D domain
    cl17735
    Location:301357
    VWC; von Willebrand factor type C domain
  2. XM_047419939.1XP_047275895.1  BMP-binding endothelial regulator protein isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

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