Property Summary

NCBI Gene PubMed Count 30
PubMed Score 19.28
PubTator Score 17.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
posterior fossa group A ependymoma 1511 7.78568618894674E-19
lung carcinoma 2844 1.69872821484513E-9
medulloblastoma 1524 2.49097715461124E-7
medulloblastoma, large-cell 6234 1.40909762920418E-6
pituitary cancer 1972 3.67023429644814E-5
atypical teratoid / rhabdoid tumor 4369 5.71379560769013E-5
pediatric high grade glioma 2712 7.44465486568394E-5
glioblastoma 5572 9.00545195348877E-5
primitive neuroectodermal tumor 3031 3.61475000125631E-4
malignant mesothelioma 3163 5.22004225309396E-4
adrenocortical carcinoma 1427 9.20287541374877E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00299619903937052
pilocytic astrocytoma 3086 0.00318276821425869
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00746342521826734
Pick disease 1893 0.00834317609564756
astrocytic glioma 2241 0.0206589085614753
oligodendroglioma 2849 0.0242603688581457
subependymal giant cell astrocytoma 2287 0.0315726600882239
aldosterone-producing adenoma 664 0.0485002960388985
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

Synonym

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

Gene

PANTHER Protein Class (2)

PDB

4JQ0   1Q1U  

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA EggNOG
Xenopus OMA Inparanoid

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.
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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.
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