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FLASH GENE

Symbol

BAMBI

contributors: mct - updated : 24-11-2020

HGNC name	BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)
HGNC id	30251

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

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 blood / hematopoietic spleen       highly Endocrine placenta         Nervous brain hindbrain medulla oblongata     Urinary kidney       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens Lymphoid/Immune macrophage Homo sapiens Skin/Tegument melanocyte

cell lineage
cell lines	melanoma cell lines (poorly metastatic)
fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	placenta, trabecular meshwork

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

isoforms

Precursor

HOMOLOGY

interspecies

ortholog to rattus Bambi

Homologene

FAMILY

BAMBI family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	transmembrane glycoprotein

basic FUNCTION	functioning as a negative regulator of TGF-beta signaling during development
	pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling
	promotes the expression of c-myc and cyclin D1 and increases Wnt-promoted cell cycle progression and can function as a positive regulator of the Wnt/beta-catenin pathway to promote cell proliferation
	antagonist of TGF-beta family members by acting as a pseudoreceptor to block the interaction between signaling type I and type II receptors
	act as a negative feedback regulator of BMP signaling during embryo development
	can promote Wnt signaling by enhancing the interaction of the Wnt receptor Frizzled5 and the downstream mediator Dishevelled2, implicating that BAMBI might integrate different cellular signaling pathways
	role for BAMBI in regulating endothelial function having potential implications for understanding and treating vascular disease and tumor neo-angiogenesis
	plays a key role in the pathogenesis and progression of osteosarcoma by regulating the expression of CTNNB1 and other signaling molecules via the pathways involved in the regulation of the cell cycle
	is a pseudoreceptor that regulates the activity of TGFB1 and BMP signalling during chondrogenesis
	may be involved in macrophage differentiation in gliomas
	BAMBI-mediated a significant signaling pathway may be an essential part of muscle growth and regeneration
	could promote the polarization process of M2 macrophages to M1 macrophages via the TGFB1/SMAD signalling pathway
	overexpression of BAMBI could decrease the ability of M2 macrophages to induce Treg differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	can synergize with SMAD7 to inhibit TGF-beta signaling by forming a ternary complex with ALK5 and SMAD7 and inhibiting the interaction between ALK5 and R-Smads
	is an inhibitor of the TGFB1 signaling pathway
	BAMBI expression was dose-dependently downregulated by Noggin
	hypoxic conditions promote TGFB1 signaling in a HIF1A-dependent manner and BAMBI is identified in this pathway as a novel HIF1A-regulated gene that contributes to hypoxia-induced loss of epithelial polarity
	leptin can promote epithelial-mesenchymal transition (EMT) in Benign prostatic hyperplasia (BPH) through downregulating BAMBI

cell & other

REGULATION

induced by	BMP signaling
		TGF-beta signaling

Other

is regulated by lysosomal and autolysosomal degradation

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   beta-catenin is responsible for the aberrant expression of BAMBI in colorectal tumor cells tumoral     --low   hypermethylation of the BAMBI gene promoter that leads to BAMBI gene suppression may be one of the epigenetic events affecting the invasiveness or aggressiveness of bladder cancers tumoral     --low   n metastatic melanoma cell lines

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS