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FLASH GENE

Symbol

BMPR1B

contributors: mct - updated : 04-04-2018

HGNC name	bone morphogenetic protein receptor, type IB
HGNC id	1077

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear       highly Nervous brain         Reproductive female system breast mammary gland   highly   male system prostate     predominantly Respiratory respiratory tract trachea     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	chick limb development, trabecular meshwork

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a small cysteine-rich extracellular ligand binding domain
	a juxtamembrane region of phosphorylation, glycine and serine rich (GS)
	a cytoplasmic serine/threonine kinase domain
	a NANDOR domain at the C terminus (non-activating, non-down regulating box)

conjugated

HemoP

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

ortholog to murine Bmpr1b

intraspecies

homolog to ACVR1

Homologene

FAMILY	TGFBR superfamily
	ser/thr family of protein kinases

CATEGORY

receptor membrane serine/threonine

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	required for signal transduction
	involved in protein amino acid phosphorylation
	playing a role in regulation of skeletogenesis and in the initial steps of cartilage condensation
	having a overlapping function with BMPR1A in early chondrogenesis
	playing a role in genital development and in ovarian function
	playing a key role in the mitosis as well as intracellular BMP signaling of pulmonary arterial smooth muscle cell (pphPASMC)
	has a novel role modulating the activity of the actin-severing protein cofilin
	BMPR1B plays distinct roles from BMPR1A and ACVR1 in maintaining bone mass and transducing BMP signaling

CELLULAR PROCESS	cell life, cell death/apoptosis
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	initial step of chondrogenesis
	activated BMPR1B increases apoptosis

PATHWAY

metabolism

signaling

signal transduction

a component

complexing with BMPR2

INTERACTION

DNA

RNA

small molecule

protein	binding members of TGF-beta superfamily activating Smad proteins (MADH1, MADH5, MADH8)
	ODAM and BMPRIB interacted through the C-terminus of ODAM, which resulted in increased ODAM phosphorylation in the presence of BMP2
	ACVR1 is required for chondrocyte proliferation and differentiation, particularly in craniofacial and axial elements, but exerts coordinated functions with both BMPR1A and BMPR1B throughout the developing endochondral skeleton
	STK11 negatively regulates BMPR1A, BMPR1B signaling

cell & other

REGULATION

activated by

BMPR2

Other

induced and increased importantly during early osteoblastic differentiation

ASSOCIATED DISORDERS

corresponding disease(s)

BDA2 , AMDHG , BDC3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in pulmonary arterial smooth muscle cells from primary pulmonary hypertension constitutional germinal mutation     loss of function causes Pierre Robin sequence constitutional       loss of function of BMP receptor signalling may inhibit the normal steroidogenic differentiation required for maturation in older patients

Susceptibility

to acromesomelic chondrodysplasia, Hunter-Thompson type

Variant & Polymorphism other	homozygous missense variant (c.1190T > G, p.Met397Arg) that segregates with acromesomelic chondrodysplasia, Hunter-Thompson type

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS