BMPR2 bone morphogenetic protein receptor type 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BMPR2provided by HGNC
Official Full Name: bone morphogenetic protein receptor type 2provided by HGNC
Primary source: HGNC:HGNC:1078
See related: Ensembl:ENSG00000204217 MIM:600799; AllianceGenome:HGNC:1078
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: BMR2; PPH1; BMPR3; BRK-3; POVD1; T-ALK; BMPR-II
Summary: 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]
Expression: Ubiquitous expression in lung (RPKM 16.2), brain (RPKM 15.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.1-q33.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (202376327..202567749)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (202857368..203049014)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (203241050..203432472)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.
Title: Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.
BMPR2 variant may be related to pulmonary hypertension after lung irradiation.
Title: BMPR2 variant may be related to pulmonary hypertension after lung irradiation.
Human liver single nuclear RNA sequencing implicates BMPR2, GDF15, arginine, and estrogen in portopulmonary hypertension.
Title: Human liver single nuclear RNA sequencing implicates BMPR2, GDF15, arginine, and estrogen in portopulmonary hypertension.
Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants.
Title: Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants.
Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.
Title: Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.
BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis.
Title: BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis.
[Hereditary pulmonary hypertension family with BMPR2 gene variation: a case report and literature review].
Title: [Hereditary pulmonary hypertension family with BMPR2 gene variation: a case report and literature review].
Vascular-Parenchymal Cross-Talk Promotes Lung Fibrosis through BMPR2 Signaling.
Title: Vascular-Parenchymal Cross-Talk Promotes Lung Fibrosis through BMPR2 Signaling.
Dysregulated Smooth Muscle Cell BMPR2-ARRB2 Axis Causes Pulmonary Hypertension.
Title: Dysregulated Smooth Muscle Cell BMPR2-ARRB2 Axis Causes Pulmonary Hypertension.
PTPN1 Deficiency Modulates BMPR2 Signaling and Induces Endothelial Dysfunction in Pulmonary Arterial Hypertension.
Title: PTPN1 Deficiency Modulates BMPR2 Signaling and Induces Endothelial Dysfunction in Pulmonary Arterial Hypertension.

Submit: New GeneRIF Correction See all GeneRIFs (251)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pulmonary hypertension, primary, 1 MedGen: C4552070 OMIM: 178600 GeneReviews: Heritable Pulmonary Arterial Hypertension Overview	Compare labs
Pulmonary venoocclusive disease 1 MedGen: C3887658 OMIM: 265450 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-08-26) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-08-26) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Treatment of pulmonary arterial smooth muscle cells with HIV-1 gp120 downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins	PubMed
Nef	nef	Treatment of pulmonary arterial smooth muscle cells with HIV-1 Nef downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins	PubMed
Tat	tat	BMP-2 treatment of BMPR-2 overexpressing pulmonary arterial smooth muscle cells (PASMCs) completely inhibits HIV-1 Tat- and cocaine-mediated augmentation of PASMC proliferation	PubMed
	tat	Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat modulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins	PubMed
	tat	HIV-1 Tat interaction with cyclin T1 is required for the repression of mannose receptor (MR) and bone morphogenetic protein receptor-2 (BMPR2) promoters	PubMed
	tat	HIV-1 Tat decreases the transcriptional levels of bone morphogenetic protein receptor-2 (BMPR2) in the macrophage cell line U937	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

RH48774 (e-PCR)
- UniSTS:77605

SHGC-57059 (e-PCR)
- UniSTS:22333

G31437 (e-PCR)
- UniSTS:9285

SHGC-104910 (e-PCR)
- UniSTS:169029

RH94008 (e-PCR)
- UniSTS:91763

G31877 (e-PCR)
- UniSTS:80251

RH69994 (e-PCR)
- UniSTS:23676

BMPR2_2375 (e-PCR)
- UniSTS:280466

D2S2918 (e-PCR)
- UniSTS:77497

RH69577 (e-PCR)
- UniSTS:20686

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables BMP binding	IPI Inferred from Physical Interaction more info	PubMed
enables BMP receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables activin receptor activity, type II	IDA Inferred from Direct Assay more info	PubMed
enables activin receptor activity, type II	TAS Traceable Author Statement more info
enables cadherin binding	IPI Inferred from Physical Interaction more info	PubMed
enables growth factor binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transforming growth factor beta receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in BMP signaling pathway	TAS Traceable Author Statement more info
involved_in activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in anterior/posterior pattern specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in aortic valve development	ISS Inferred from Sequence or Structural Similarity more info
involved_in artery development	ISS Inferred from Sequence or Structural Similarity more info
involved_in atrial septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in atrioventricular valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in blood vessel development	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood vessel remodeling	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in cardiac muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to BMP stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to starvation	IEP Inferred from Expression Pattern more info	PubMed
involved_in chondrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endochondral bone morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb development	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphangiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lymphatic endothelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in maternal placenta development	IEA Inferred from Electronic Annotation more info
involved_in mesoderm formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitral valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell proliferation involved in heart valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of chondrocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of systemic arterial blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vasoconstriction	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in outflow tract septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in pharyngeal arch artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of SMAD protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of axon extension involved in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cartilage development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epithelial cell migration	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteoglycan biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in pulmonary valve development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lung blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lung blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina vasculature development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in semi-lunar valve development	ISS Inferred from Sequence or Structural Similarity more info
involved_in tricuspid valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in venous blood vessel development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in basal plasma membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with caveola	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: bone morphogenetic protein receptor type-2

Names: BMP type II receptor; BMP type-2 receptor; bone morphogenetic protein receptor type II; bone morphogenetic protein receptor, type II (serine/threonine kinase); type II activin receptor-like kinase; type II receptor for bone morphogenetic protein-4

NP_001195.2

EC 2.7.11.30

XP_011509989.1

EC 2.7.11.30

XP_054199481.1

EC 2.7.11.30

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

NG_009363.1 RefSeqGene

Range

5001..196425

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_712

mRNA and Protein(s)

NM_001204.7 → NP_001195.2 bone morphogenetic protein receptor type-2 precursor

See identical proteins and their annotated locations for NP_001195.2

Status: REVIEWED

Source sequence(s)

AC009960, BC035097, D50516, DA787547, DB233604

Consensus CDS

CCDS33361.1

UniProtKB/Swiss-Prot

Q13161, Q13873, Q16569, Q4ZG08, Q53SA5, Q585T8

UniProtKB/TrEMBL

A8K8R5

Related

ENSP00000363708.4, ENST00000374580.10

Conserved Domains (2) summary

cd14054
Location:207 → 504

STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors

pfam01064
Location:52 → 127

Activin_recp; Activin types I and II receptor 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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

202376327..202567749

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011511687.2 → XP_011509989.1 bone morphogenetic protein receptor type-2 isoform X1

UniProtKB/TrEMBL

A8K8R5

Conserved Domains (3) summary

smart00220
Location:204 → 495

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14054
Location:207 → 504

STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors

pfam01064
Location:60 → 131

Activin_recp; Activin types I and II receptor domain

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

202857368..203049014

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343506.1 → XP_054199481.1 bone morphogenetic protein receptor type-2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_033346.2: Suppressed sequence

Description

NM_033346.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.