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Tbio Fibroblast growth factor 12

Involved in nervous system development and function. Promote neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation.

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

 Comments

Property Summary

NCBI Gene PubMed Count 30
PubMed Score 19.28
PubTator Score 17.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count Z-score Confidence
Mental depression 58 0.0 2.0
Disease Target Count Z-score Confidence
Epilepsy 346 0.0 4.0

Expression

  Differential Expression (19)

Disease log2 FC p
malignant mesothelioma 1.400 5.2e-04
astrocytic glioma -2.900 2.1e-02
posterior fossa group A ependymoma -4.900 7.8e-19
oligodendroglioma -3.100 2.4e-02
glioblastoma -4.200 9.0e-05
medulloblastoma -4.100 2.5e-07
atypical teratoid / rhabdoid tumor -3.600 5.7e-05
medulloblastoma, large-cell -4.500 1.4e-06
primitive neuroectodermal tumor -3.400 3.6e-04
adrenocortical carcinoma -2.614 9.2e-04
intraductal papillary-mucinous adenoma (... -1.200 3.0e-03
intraductal papillary-mucinous carcinoma... -1.100 7.5e-03
pediatric high grade glioma -3.200 7.4e-05
pilocytic astrocytoma -1.500 3.2e-03
aldosterone-producing adenoma -1.228 4.9e-02
subependymal giant cell astrocytoma -2.630 3.2e-02
lung carcinoma 1.200 1.7e-09
Pick disease -1.700 8.3e-03
pituitary cancer 1.800 3.7e-05

Synonym

Accession P61328 B2R6B7 B2R976 O35339 P70376 Q8TBG5 Q92912 Q93001 FGF-12
Symbols FHF1
EIEE47
FGF12B

Gene

FGF12

PANTHER Protein Class (2)

PDB

4JQ0   1Q1U  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (7)

 GO Function (4)

 GO Component (3)

 GO Process (17)

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 Compartment GO Term (16)

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 OMIM Phenotype (1)

 MGI Phenotype (2)

 GWAS Trait (4)

 HCA RNA Cell Line (53)

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Pathway (15)

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Protein-protein Interaction (45)

ANK3   NOLC1   TCOF1   USP47   RTF1   WDR75   C18orf25   ACIN1   AFF4   MLLT1   DCAF5   NOS1AP   ZNF703   MAPK8IP2   KBTBD7   CHD9   PARN   GPBP1L1   FNBP4   SIRT1   SUPT5H   CHD8   PIP4K2B   MED4   GPATCH2   SCN5A   AHCYL2   AHCYL1   DCAF16   TAF1C   MLLT3   ELL   SETD2   ZRANB3   LENG8   C1orf52   CXXC1   C2CD5   AGAP3   WDR43   PHKB   CCNT1   AGTPBP1   CTDP1   PHKA2  

Gene RIF (14)

PMID Text
26392562 Data indicate that SCN5A variant (Nav1.5) p.H1849R affected interaction with fibroblast growth factor homologous factor (FHFs).
26290467 Nine SNPs of the FGF12 gene were associated with Kashin-Beck disease.
24096171 Q7R-FGF12 is a disease-associated BrS mutation. Moreover, these data suggest for the first time that FHF effects on Na(+) and Ca(2+) channels are separable.
23679094 VAX1 rs10787760, rs6585429 and rs1871345 polymorphisms may be involved in nonsyndromic cleft lip with or without cleft palate in Brazilian patients, but there is no association with polymorphisms in FGF12, VCL, or CX43
22552777 PHOX2B, FGF12 and GAD2 genes are hypermethylated in colorectal neoplastic tissue
21518765 exogenous FGF12 can play a role in tissues by translocating into cells through the plasma membrane
20634891 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20083228 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18525161 These findings suggest that FGF12 intracellularly suppresses radiation-induced apoptosis in mast cells independently of IB2.
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18289114 Data describe the biophysical characterization and folding of fibroblast growth factor homologous factor-1b (FHF-1b) in comparison with acidic fibroblast growth factor (FGF-1), and show that FHF-1 is significantly more stable than FGF-1.
12815063 x-ray crystal structure of FHF1b
12401812 Fibroblast growth factor homologous factor 1B (FHF1B) modulated the cardiac sodium channel Nav1.5.

AA Sequence 

MAAAIASSLIRQKRQARESNSDRVSASKRRSSPSKDGRSLCERHVLGVFSKVRFCSGRKRPVRRRPEPQL      1 - 70
KGIVTRLFSQQGYFLQMHPDGTIDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDV     71 - 140
FTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQIMKGNRVKKTKPSSHFVPKPIEVCMYRE    141 - 210
PSLHEIGEKQGRSRKSSGTPTMNGGKVVNQDST                                         211 - 243
//

Text Mined References (30)

PMID Year Title
27164707 2016 Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.
26392562 2015 SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
26290467 2016 Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.
25416956 2014 A proteome-scale map of the human interactome network.
24096171 2013 FGF12 is a candidate Brugada syndrome locus.
23728906 2013 A genome-wide association study of sleep habits and insomnia.
23679094 2013 Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.
23377640 2013 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
22552777 2012 Identification of novel DNA methylation markers in colorectal cancer using MIRA-based microarrays.
21518765 2011 Fibroblast growth factor-12 (FGF12) translocation into intestinal epithelial cells is dependent on a novel cell-penetrating peptide domain: involvement of internalization in the in vivo role of exogenous FGF12.
21139019 2011 A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20083228 2010 Genome-wide analysis of chromosomal alterations in patients with esophageal squamous cell carcinoma exposed to tobacco and betel quid from high-risk area in India.
19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
18525161 2008 Involvement of intracellular expression of FGF12 in radiation-induced apoptosis in mast cells.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18289114 2008 Biophysical characterization of fibroblast growth factor homologous factor-1b (FHF-1b): sodium dodecyl sulfate promotes two state folding.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15199049 2004 Functional phylogeny relates LET-756 to fibroblast growth factor 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12815063 2003 Fibroblast growth factor (FGF) homologous factors share structural but not functional homology with FGFs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12401812 2003 Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B.
11378392 2001 Fibroblast growth factor homologous factors are intracellular signaling proteins.
10049777 1999 Cloning and characterization of a cDNA encoding a novel fibroblast growth factor preferentially expressed in human heart.
9345906 1997 Assignment of FGF12, the human FGF homologous factor 1 gene, to chromosome 3q29-->3qter by fluorescence in situ hybridization.
8790420 1996 Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.