Seroatlas · Human Serome Atlas

BMP2

Bone morphogenetic protein 2

Also known as: BMP2_HUMAN, BMP2A

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

Protein identityUniProt · HPA

UniProt accession
P12643
Gene
BMP2
Ensembl
ENSG00000125845
Chromosome
20
Canonical length
396 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Vesicles,Plasma membrane,Primary cilium,Primary cilium transition zone
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

396 residues, UniProt reviewed canonical sequence.

>P12643|BMP2
     1  MVAGTRCLLA LLLPQVLLGG AAGLVPELGR RKFAAASSGR PSSQPSDEVL SEFELRLLSM
    61  FGLKQRPTPS RDAVVPPYML DLYRRHSGQP GSPAPDHRLE RAASRANTVR SFHHEESLEE
   121  LPETSGKTTR RFFFNLSSIP TEEFITSAEL QVFREQMQDA LGNNSSFHHR INIYEIIKPA
   181  TANSKFPVTR LLDTRLVNQN ASRWESFDVT PAVMRWTAQG HANHGFVVEV AHLEEKQGVS
   241  KRHVRISRSL HQDEHSWSQI RPLLVTFGHD GKGHPLHKRE KRQAKHKQRK RLKSSCKRHP
   301  LYVDFSDVGW NDWIVAPPGY HAFYCHGECP FPLADHLNST NHAIVQTLVN SVNSKIPKAC
   361  CVPTELSAIS MLYLDENEKV VLKNYQDMVV EGCGCR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BMP2 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
20 nTPM

Expression across tissuesHPA

Tissue

  • stomach: 20 nTPM
  • lung: 18 nTPM
  • thyroid gland: 18 nTPM
  • adipose tissue: 17 nTPM
  • urinary bladder: 16 nTPM
  • gallbladder: 15 nTPM

Single-cell type

  • alveolar cells type 1: 193 nCPM
  • urothelial cells: 171 nCPM
  • alveolar cells type 2: 170 nCPM
  • basal keratinocytes: 142 nCPM
  • epididymal basal cells: 116 nCPM
  • pancreatic duct cells: 92 nCPM

Immune cell

  • NK-cell: 0.3 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • midbrain: 5.2 nTPM
  • thalamus: 5.1 nTPM
  • white matter: 5 nTPM
  • pons: 4.8 nTPM
  • medulla oblongata: 4.3 nTPM
  • hippocampal formation: 4.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BMP2.

Disease | AllUniProt

Conditions BMP2 is implicated in, by any mechanism.

  • Brachydactyly A2 (BDA2) MIM:112600
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (SSFSC1) MIM:617877

Disease | GeneticClinVar

36 pathogenic / likely-pathogenic of 250 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
  • Type A2 brachydactyly
  • BMP2-related disorder
  • Inborn genetic diseases

ReferencesPubMed · IEDB

Publications for BMP2 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

1 publication

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.22
gnomAD pLI
0.99
gnomAD missense Z
1.14
DepMap mean gene effect
0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 BMP2 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 BMP2 as an antibody target. Whether an autoantibody or antibody against BMP2 could matter depends on whether native BMP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BMP2 is annotated as secreted, so native BMP2 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 BMP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BMP2. 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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