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FLASH GENE

Symbol

ACVR2B

contributors: shn - updated : 30-01-2014

HGNC name	activin A receptor, type IIB
HGNC id	174

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001106 11 - 11373 NP_001097 - 512 - -

EXPRESSION

Type	restricted

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 Cardiovascular heart         Digestive intestine small intestine       Reproductive female system placenta         male system prostate

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a ligand-binding extracellular domain with cysteine-rich region
	a transmembrane domain
	a cytoplasmic domain with predicted serine/threonine specificity

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	ortholog to Acvr2b, Rattus norvegicus
	ortholog to Acvr2b, Mus musculus
	ortholog to ACVR2B, Pan troglodytes
	ortholog to acvr2b, Danio rerio

Homologene

FAMILY

transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	plasma membrane
text	transmembrane protein

basic FUNCTION	stimulating FSH secretion
	potent myostatin inhibitor, which can cause dramatic increases in muscle mass
	lays a critical role in patterning both anteroposterior and left-right axes in vertebrate animals
	regulate the axial formation and the development of foregut-derived organs
	with SMAD2 function in the same signaling pathway to regulate axial patterning and pancreas islet formation by means of a threshold mechanism
	type II TGF-beta serine/threonine kinase receptor, integral to the activin and myostatin signaling pathway
	myostatin-related genes involved in the regulation and signaling of myostatin
	key regulator of skeletal muscle mass development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	playing a critical role in patterning both anteroposterior and left-right axes

PATHWAY

metabolism

signaling

a component

forming a stable complex with type I receptor after ligand binding

INTERACTION

DNA

RNA

small molecule

protein	activin A receptor type 1B, ActR-IB
	BMP7 and activin
	sorting nexin 6, SNX6
	C-terminal myostatin dimer
	Postsynaptic density 95/Discs large/Zona occludens-1 (PDZ) protein
	GDF-8 and GDF-11 bind the extracellular domain of ActRIIB

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HTX4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of ACVR2A, ACVR2B, and FST in the endometrium may play a role in adenomyosis-related infertility

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

ActRIIB-/- mice have randomized heart position, malposition of the great arteres ventricular and atrial septal defects as well as right pulmonary isomerism and splenic abnormalities