BMPR2

GENERAL INFORMATION

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Gene name

BMPR2

Gene description

Bone morphogenetic protein receptor, type II (serine/threonine kinase)

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed weak to moderate cytoplasmic positivity. Thyroid and adrenal glands, macrophages, renal tubules, cells in red pulp and inflammatory cells were strongly stained. Squamous epithelia, epidermal cells and most cells in female genitalia were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA017385
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

BMPR2 (HGNC Symbol)

Synonyms

BMPR-II, BMPR3, BRK-3, PPH1, T-ALK

Description

Bone morphogenetic protein receptor, type II (serine/threonine kinase) (HGNC Symbol)

Entrez gene 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 BMPs, which 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. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]

Chromosome

2

Cytoband

Chromosome location (bp)

202376936 - 202567751

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000204217 (version 78.38)

Entrez gene

659

UniProt

Q13873 (UniProt - Evidence at protein level)

neXtProt

NX_Q13873

Antibodypedia

BMPR2 antibodies


PROTEIN BROWSER

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ENST00000374574
 
ENST00000374580
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BMPR2-001 ENSP00000363708
ENST00000374580
Q13873
Show all »
Show » Show » 1038 115.2 Yes 2
BMPR2-002 ENSP00000363702
ENST00000374574
Q13873
Show all »
Show » Show » 530 60 Yes 2