Seroatlas · Human Serome Atlas

BMPER

BMP-binding endothelial regulator protein

Also known as: BMPER_HUMAN, CRIM3, Cv2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8N8U9
Gene
BMPER
Ensembl
ENSG00000164619
Chromosome
7
Canonical length
685 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Secretome location
Secreted to extracellular matrix

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

685 residues, UniProt reviewed canonical sequence.

>Q8N8U9|BMPER
     1  MLWFSGVGAL AERYCRRSPG ITCCVLLLLN CSGVPMSLAS SFLTGSVAKC ENEGEVLQIP
    61  FITDNPCIMC VCLNKEVTCK REKCPVLSRD CALAIKQRGA CCEQCKGCTY EGNTYNSSFK
   121  WQSPAEPCVL RQCQEGVVTE SGVRCVVHCK NPLEHLGMCC PTCPGCVFEG VQYQEGEEFQ
   181  PEGSKCTKCS CTGGRTQCVR EVCPILSCPQ HLSHIPPGQC CPKCLGQRKV FDLPFGSCLF
   241  RSDVYDNGSS FLYDNCTACT CRDSTVVCKR KCSHPGGCDQ GQEGCCEECL LRVPPEDIKV
   301  CKFGNKIFQD GEMWSSINCT ICACVKGRTE CRNKQCIPIS SCPQGKILNR KGCCPICTEK
   361  PGVCTVFGDP HYNTFDGRTF NFQGTCQYVL TKDCSSPASP FQVLVKNDAR RTRSFSWTKS
   421  VELVLGESRV SLQQHLTVRW NGSRIALPCR APHFHIDLDG YLLKVTTKAG LEISWDGDSF
   481  VEVMAAPHLK GKLCGLCGNY NGHKRDDLIG GDGNFKFDVD DFAESWRVES NEFCNRPQRK
   541  PVPELCQGTV KVKLRAHREC QKLKSWEFQT CHSTVDYATF YRSCVTDMCE CPVHKNCYCE
   601  SFLAYTRACQ REGIKVHWEP QQNCAATQCK HGAVYDTCGP GCIKTCDNWN EIGPCNKPCV
   661  AGCHCPANLV LHKGRCIKPV LCPQR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BMPER can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
5.2 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 5.2 nTPM
  • liver: 4.7 nTPM
  • cerebellum: 4 nTPM
  • lung: 3.8 nTPM
  • appendix: 3.7 nTPM
  • cerebral cortex: 3.6 nTPM

Single-cell type

  • gonadotrophs: 532 nCPM
  • fibro-adipogenic progenitors: 497 nCPM
  • thyrotrophs: 314 nCPM
  • oligodendrocytes: 268 nCPM
  • somatotrophs: 211 nCPM
  • brain excitatory neurons: 203 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebellum: 3.2 nTPM
  • cerebral cortex: 3.2 nTPM
  • pons: 2.2 nTPM
  • basal ganglia: 2 nTPM
  • white matter: 2 nTPM
  • hippocampal formation: 1.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BMPER.

Disease | AllUniProt

Conditions BMPER is implicated in, by any mechanism.

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 436 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Diaphanospondylodysostosis
  • BMPER-related disorder
  • HP:0003549

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.66
gnomAD pLI
0
gnomAD missense Z
0.01
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BMPER in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BMPER as an antibody target. Whether an autoantibody or antibody against BMPER could matter depends on whether native BMPER is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BMPER is annotated as secreted, so native BMPER circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label BMPER as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BMPER. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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