Seroatlas · Human Serome Atlas

BMPR2

Bone morphogenetic protein receptor type-2

Also known as: BMPR-II, BMPR2_HUMAN, BMPR3, BRK-3, PPH1, T-ALK

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

Protein identityUniProt · HPA

UniProt accession: Q13873
Gene: BMPR2
Ensembl: ENSG00000204217
Chromosome: 2
Canonical length: 1038 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins
Subcellular location: Nucleoplasm,Plasma membrane

OverviewNCBI Gene

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

Canonical amino-acid sequenceUniProt

1038 residues, UniProt reviewed canonical sequence.

>Q13873|BMPR2
     1  MTSSLQRPWR VPWLPWTILL VSTAAASQNQ ERLCAFKDPY QQDLGIGESR ISHENGTILC
    61  SKGSTCYGLW EKSKGDINLV KQGCWSHIGD PQECHYEECV VTTTPPSIQN GTYRFCCCST
   121  DLCNVNFTEN FPPPDTTPLS PPHSFNRDET IIIALASVSV LAVLIVALCF GYRMLTGDRK
   181  QGLHSMNMME AAASEPSLDL DNLKLLELIG RGRYGAVYKG SLDERPVAVK VFSFANRQNF
   241  INEKNIYRVP LMEHDNIARF IVGDERVTAD GRMEYLLVME YYPNGSLCKY LSLHTSDWVS
   301  SCRLAHSVTR GLAYLHTELP RGDHYKPAIS HRDLNSRNVL VKNDGTCVIS DFGLSMRLTG
   361  NRLVRPGEED NAAISEVGTI RYMAPEVLEG AVNLRDCESA LKQVDMYALG LIYWEIFMRC
   421  TDLFPGESVP EYQMAFQTEV GNHPTFEDMQ VLVSREKQRP KFPEAWKENS LAVRSLKETI
   481  EDCWDQDAEA RLTAQCAEER MAELMMIWER NKSVSPTVNP MSTAMQNERN LSHNRRVPKI
   541  GPYPDYSSSS YIEDSIHHTD SIVKNISSEH SMSSTPLTIG EKNRNSINYE RQQAQARIPS
   601  PETSVTSLST NTTTTNTTGL TPSTGMTTIS EMPYPDETNL HTTNVAQSIG PTPVCLQLTE
   661  EDLETNKLDP KEVDKNLKES SDENLMEHSL KQFSGPDPLS STSSSLLYPL IKLAVEATGQ
   721  QDFTQTANGQ ACLIPDVLPT QIYPLPKQQN LPKRPTSLPL NTKNSTKEPR LKFGSKHKSN
   781  LKQVETGVAK MNTINAAEPH VVTVTMNGVA GRNHSVNSHA ATTQYANGTV LSGQTTNIVT
   841  HRAQEMLQNQ FIGEDTRLNI NSSPDEHEPL LRREQQAGHD EGVLDRLVDR RERPLEGGRT
   901  NSNNNNSNPC SEQDVLAQGV PSTAADPGPS KPRRAQRPNS LDLSATNVLD GSSIQIGEST
   961  QDGKSGSGEK IKKRVKTPYS LKRWRPSTWV ISTESLDCEV NNNGSNRAVH SKSSTAVYLA
  1021  EGGTATTMVS KDIGMNCL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BMPR2 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: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.53
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

lung: 22 nTPM
placenta: 22 nTPM
cerebral cortex: 21 nTPM
adrenal gland: 17 nTPM
retina: 17 nTPM
blood vessel: 17 nTPM

Single-cell type

vascular endothelial cells: 1,029 nCPM
granulosa cells: 527 nCPM
adrenal cortex cells: 505 nCPM
smooth muscle cells: 492 nCPM
cone photoreceptor cells: 441 nCPM
myonuclei: 371 nCPM

Immune cell

non-classical monocyte: 0.8 nTPM
T-reg: 0.7 nTPM
gdT-cell: 0.5 nTPM
plasmacytoid DC: 0.5 nTPM
MAIT T-cell: 0.4 nTPM
myeloid DC: 0.4 nTPM

Brain region

cerebral cortex: 65 nTPM
hypothalamus: 62 nTPM
basal ganglia: 61 nTPM
pons: 56 nTPM
midbrain: 55 nTPM
thalamus: 55 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BMPR2.

Disease | AllUniProt

Conditions BMPR2 is implicated in, by any mechanism.

Pulmonary hypertension, primary, 1 (PPH1) MIM:178600
Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1) MIM:265450

Disease | GeneticClinVar

528 pathogenic / likely-pathogenic of 2,108 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary venoocclusive disease 1

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): 0.19
gnomAD pLI: 1
gnomAD missense Z: 2.06
DepMap mean gene effect: -0.11
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 BMPR2 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 BMPR2 as an antibody target. Whether an autoantibody or antibody against BMPR2 could matter depends on whether native BMPR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BMPR2 is annotated at the cell surface, where native BMPR2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label BMPR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...