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FLASH GENE

Symbol

FGF12

contributors: mct - updated : 21-11-2016

HGNC name	fibroblast growth factor 12
HGNC id	3668

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	588.21 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004113 6 splicing 5408 NP_004104 - 181 - 2011 21518765 FGF12B lacks the NLS because the N-terminal 66 AAs of FGF12A are substituted by 4 AAs by means of alternative splicing endocytosed FGF12B could translocate from endosomes into the cytosol to function because such translocation was observed with FGF1 NM_021032 5 - 6174 NP_066360 - 243 - 2011 21518765 FGF12A detected in the nuclei of cells

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 ventricle       Homo sapiens Nervous brain       predominantly Homo sapiens   spinal cord

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	in fetal brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	clusters of basic residues potentially acting as nuclear localization signals (NLS)
	can be internalized into cells depending on a CPP domain (CPP-C), at the C-terminal region, that can play a role in delivering other polypeptides into cells as a CPP (cell-penetrating peptide)
	not only lacks classical signal sequences but also fails to activate FGFRs

HOMOLOGY

intraspecies

homolog to fibroblast growth factor 12

Homologene

FAMILY	heparin-binding growth factors family
	FGF11 subfamily

CATEGORY

signaling growth factor

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,nucleus

basic FUNCTION	able to inhibit radiation-induced tissue damage like other FGFs
	intracellularly suppresses radiation-induced apoptosis in mast cells independently of MAPK8IP2
	plays an intracellular role in the inhibition of radiation-induced apoptosis
	can be internalized into cells to play a role in physiological events
	may also be secreted from mast cells via other unknown pathways
	potential radioprotector that could exert therapeutic effects on radiation damage
	FGF11, FGF12, FGF13, FGF14 are intracellular proteins that bind and modulate voltage-gated sodium channels
	FGF11, FGF12, FGF13, FGF14 not only are potent modulators of voltage-gated Na+ channels but also affect Ca2+ channels and their function
	can protect the intestine against radiation-induced injury through its internalization, independently of FGFRs
	strongly induced the quiescent and contractile Vascular smooth muscle cells (VSMCs) phenotypes and directly promoted VSMC lineage differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

unknown

INTERACTION

DNA

RNA

small molecule

protein	can bind heparin with high affinity, as for other FGFs, and a heparin-binding site of FGF12 seems to be similar to that of other FGFs
	could bind to the C terminus of the cardiac voltage-gated sodium channel to modulate its properties

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE47

Susceptibility

for Kashin-Beck disease (KBD)

Variant & Polymorphism other	most significant association signal was observed at rs1847340 for KBD

Candidate gene	candidate for Brugada syndrome
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous vascular ischemic injury could be a new therapeutic target for treating restenosis and atherosclerosis

ANIMAL & CELL MODELS