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FLASH GENE

Symbol

SMAD9

contributors: mct/npt - updated : 31-08-2016

HGNC name	SMAD family member 9
HGNC id	6774

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	13q13.3      Physical location : 37.418.968 - 37.494.409
Synonym name	MAD, mothers against decapentaplegic homolog 9 (Drosophila)
	SMAD, mothers against DPP homolog 9 (Drosophila)
	SMAD family member 9
Synonym symbol(s)	MADR4, SMAD6, MADH6, SMAD8A, SMAD8B, MADH9, SMAD8

DNA

TYPE	functioning gene
STRUCTURE	72.20 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001127217 7 splicing 2365 NP_001120689 52.5 467 - 1999 10583507 37AA insertion in a central, proline-rich domain NM_005905 6 splicing 2254 NP_005896 48.3 430 - 1999 10583507 lacks a portion encoding 47 AAs, including the SSXS phosphorylation site, in the C-terminal MH2 region localized to the cytoplasmic region acted as a dominant inhibitor of BMP signalling

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 Cardiovascular heart         Digestive intestine small intestine       Nervous brain         Reproductive female system ovary         male system testis         male system prostate       Respiratory lung

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain, lung, kidney
	ubiquitous during testis development but becomes cell-specific in the adult (Itman 2008)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	Dwarfin (DWA/MH1) DNA binding domain including a nuclear localization-like signal (NLS-L)
	a double loop region
	a linker region and a DWB/MH2 heterodimerization and transactivation domain

conjugated

PhosphoP

mono polymer

complex

HOMOLOGY

interspecies	homolog to Drosophila Mad (mother against dpp) gene JV15-2
	homolog to murine Madh9
	homolog to rattus Madh9

intraspecies

homolog to MADH3

Homologene

FAMILY

dwarfin/SMAD family

CATEGORY

regulatory , transcription factor , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome
text	CO-Smad Smad4 nuclear translocation
	translocated into the nucleus (Nishita 1999)

basic FUNCTION	intracellular mediator of TGFB family of cytokines
	transcriptional modulator
	receptor-regulator Smad
	signal transducer for the members of the transforming growth factor-beta (TGF-beta) superfamily (Miyazono 2000)
	is highly capable of promoting osteogenic differentiation of MSCs
	is potentially a new type of transcriptional regulator in BMP signaling

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

TGFB, BMP

a component

complexing with MADH3 for nuclear translocation

INTERACTION

DNA

RNA

small molecule

protein	interacting with MADH4, RUNX1 (PEBP2A) and MADH7
	binds to SMAD1, SMAD5 and SMAD9, and represses bone morphogenetic protein (BMP) signaling responses
	CREBZF inhibits the function of BMP6 by interacting with SMAD1, SMAD5, SMAD9
	SMAD9 expression was increased by the activation of BMP signaling, similar to that of inhibitory SMADS (I-Smads), and SMAD9 reduced BMP activity

cell & other

REGULATION

activated by	phosphorylation on serine by bone morphogenetic proteins (BMP) type I receptor kinase
	BMPR1A (serotonin transactivates BMPR1A, to activate SMAD 1/5/8 via Rho and Rho kinase in pulmonary artery smooth muscle cells; Rho and Rho kinase also participate in the activation of Smads by BMP) (Liu 2009)

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to pulmonary arterial hypertension to hamartomatous polyposis in the colon

Variant & Polymorphism other	c.606 C>A, p.C202X associated with pulmonary arterial hypertension
	germline heterozygous mutation in SMAD9 (SMAD9(V90M)) associated with hamartomatous polyposis in the colon

Candidate gene	DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC (Kang 2008)
Marker
Therapy target

ANIMAL & CELL MODELS