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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

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