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  5. Fibroblast growth factor 12

Tbio Fibroblast growth factor 12

Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes 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 34
PubMed Score 23.85
PubTator Score 17.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 1 0.0 0.0
Hepatomegaly 285 0.0 0.0
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Mental Depression 333 0.0 2.2
Small intestine cancer 12 0.0 0.9
Disease Target Count Z-score Confidence
Epilepsy 792 0.0 4.0
Disease Target Count Z-score Confidence
Ebstein anomaly 16 3.253 1.6

Expression

  Differential Expression (19)

Disease log2 FC p
adrenocortical carcinoma -2.038 2.0e-04
adult high grade glioma -2.100 4.0e-04
aldosterone-producing adenoma -1.228 4.9e-02
astrocytic glioma -1.200 4.2e-02
Astrocytoma, Pilocytic -1.300 3.0e-02
atypical teratoid / rhabdoid tumor -1.600 1.5e-02
ependymoma -4.000 3.6e-02
glioblastoma -1.800 6.7e-04
group 3 medulloblastoma -2.100 1.2e-02
intraductal papillary-mucinous adenoma (... -1.200 3.0e-03
intraductal papillary-mucinous carcinoma... -1.100 7.5e-03
lung carcinoma 1.200 1.7e-09
malignant mesothelioma 1.200 3.0e-06
medulloblastoma, large-cell -2.400 6.7e-05
oligodendroglioma -1.300 3.2e-02
Pick disease -1.700 8.3e-03
pituitary cancer 1.300 2.5e-05
primitive neuroectodermal tumor -2.200 1.5e-03
subependymal giant cell astrocytoma -1.650 2.5e-02

Synonym

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

Gene

FGF12

PANTHER Protein Class (2)

PDB

1Q1U   4JQ0  

  Ortholog (1)

Species Source Disease
Macaque OMA EggNOG Inparanoid

 UniProt Keyword (8)

 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 (5)

 HCA RNA Cell Line (53)

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Pathway (9)

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 (17)

AA Sequence 

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

Text Mined References (32)

PMID Year Title