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FLASH GENE

Symbol

FGF9

contributors: mct/npt/pgu - updated : 28-01-2013

HGNC name	fibroblast growth factor 9 (glia-activating factor)
HGNC id	3687

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SYNS3 multiple synostoses 3
Location	13q12.11      Physical location : 22.245.214 - 22.278.640
Synonym name	endometrial stroma growth factor
	glia-activating factor
Synonym symbol(s)	GAF, HBFG-9, MGC119914, MGC119915, SYNS3

DNA

TYPE	functioning gene
STRUCTURE	33.43 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002010 3 - 4545 NP_002001 - 208 - 2001 11223514

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       Nervous brain         Reproductive female system breast mammary gland     Respiratory lung         Homo sapiens Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining mesothelium     Homo sapiens Epithelial barrier/lining endometrium     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Nervous neuron Respiratory epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	apical ectodermal ridge

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two cysteine residues and other consensus sequences
	two hydrophobic domains at the N terminus (cleavable signal sequence)

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY	heparin-binding growth factors family
	FGF9 subfamily

CATEGORY

transcription factor , signaling growth factor , transport

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm

basic FUNCTION	autocrine/paracrine growth factor, playing an important for glial cell development
	playing a role in retinal differentiation and maturation, possibly representing a neuronally derived factor acting upon glial (and other) cells
	mesothelial and epithelial FGF9 directs lung development by regulating mesenchymal growth, and the pattern and expression levels of mesenchymal growth factors that signal back to the epithelium
	playing a role in XY germ cell survival
	perichondrial FGF1, FGF2, FGF6, FGF7, FGF9, FGF18, FGF21, FGF22 regulate growth plate chondrogenesis
	plays a role in colorectal and endometrial carcinogenesis
	playing an important role in normal joint development
	homodimerization controls the binding to the receptor and heparan sulfate dependent diffusion in the extracellular matrix
	might be important during various stages of bone healing
	contributes functionally to both angiogenic and osteogenic processes during bone repair
	required for lung development

CELLULAR PROCESS	cell life, proliferation/growth
	cell life, antiapoptosis
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

endocytosis transport

PATHWAY

metabolism

signaling

TGFB1-FGF9-PITX2 signaling cascade regulates cranial neural crest cell proliferation during palate formation

a component

INTERACTION

DNA

RNA

small molecule

protein	cooperate with SHH to regulate mesenchymal proliferation in distinct submesothelial and subepithelial regions
	FUBP3 regulates FGF9 expression at the post-transcriptional level
	interaction between FUBP3 and FGF9 3prime-UTR UG-repeat promoting FGF9 mRNA translation

cell & other

REGULATION

induced by

SHH

ASSOCIATED DISORDERS

corresponding disease(s)

SYNS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in colorectal and endometrial carcinoma constitutional   deletion     of either FGF9 or FGFR2 in an XY gonad resulted in up-regulation of WNT4 and male-to-female sex reversal

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	spontaneous dominant mouse mutant, Elbow knee synostosis (Eks), shows elbow and knee joint synosostis, and premature fusion of cranial sutures
	loss of Fgf9 in XX Wnt4(-/-) gonads does not rescue their partial female-to-male sex-reversal
	embryos lacking Fgf9 show mesenchymal hypoplasia, decreased epithelial branching and, by the end of gestation, hypoplastic lungs that cannot support life