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Aliases for FGF12 Gene

Aliases for FGF12 Gene

  • Fibroblast Growth Factor 12 2 3 5
  • Fibroblast Growth Factor Homologous Factor 1 2 3 4
  • Myocyte-Activating Factor 2 3 4
  • Fibroblast Growth Factor FGF-12b 2 3
  • Fibroblast Growth Factor 12B 2 3
  • FGF12B 3 4
  • FHF-1 3 4
  • FHF1 3 4
  • EIEE47 3
  • FGF-12 4

External Ids for FGF12 Gene

Previous HGNC Symbols for FGF12 Gene

  • FGF12B

Previous GeneCards Identifiers for FGF12 Gene

  • GC03M188826
  • GC03M193121
  • GC03M193261
  • GC03M193180
  • GC03M193342
  • GC03M191859
  • GC03M189260

Summaries for FGF12 Gene

Entrez Gene Summary for FGF12 Gene

  • 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]

GeneCards Summary for FGF12 Gene

FGF12 (Fibroblast Growth Factor 12) is a Protein Coding gene. Diseases associated with FGF12 include Epileptic Encephalopathy, Early Infantile, 47 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Activation of cAMP-Dependent PKA and GPCR Pathway. GO annotations related to this gene include growth factor activity and ion channel binding. An important paralog of this gene is FGF14.

UniProtKB/Swiss-Prot for FGF12 Gene

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

Gene Wiki entry for FGF12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF12 Gene

Genomics for FGF12 Gene

Regulatory Elements for FGF12 Gene

Enhancers for FGF12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F191959 0.2 ENCODE 15.3 +806.3 806309 4.9 PKNOX1 JUNB FEZF1 ZIC2 ATF2 FOSL1 JUND GLIS1 POU5F1 SP7 FGF12 ENSG00000237653 ENSG00000232353
GH03F191925 0.6 ENCODE 13.9 +840.0 839972 4.4 ZNF316 ZNF146 ZNF280D POLR2A HLF ZMYM3 MAFK FGF12 LOC100129725 LOC105374276
GH03F191903 0.5 FANTOM5 11.8 +864.4 864409 0.3 FGF12 PYDC2 LOC100129725 LOC105374276
GH03F192744 0.2 Ensembl 11.3 +22.8 22764 0.4 FGF12 RNU1-20P
GH03F192727 0.9 ENCODE 10.9 +40.1 40148 0.2 ZNF362 MAZ NRF1 SP2 SIN3A ZNF384 MNT MIER2 REST RAD21 FGF12 RNU1-20P GC03P192681
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FGF12 on UCSC Golden Path with GeneCards custom track

Genomic Location for FGF12 Gene

Chromosome:
3
Start:
192,139,244 bp from pter
End:
192,767,764 bp from pter
Size:
628,521 bases
Orientation:
Minus strand

Genomic View for FGF12 Gene

Genes around FGF12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF12 Gene

Proteins for FGF12 Gene

  • Protein details for FGF12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61328-FGF12_HUMAN
    Recommended name:
    Fibroblast growth factor 12
    Protein Accession:
    P61328
    Secondary Accessions:
    • B2R6B7
    • B2R976
    • O35339
    • P70376
    • Q8TBG5
    • Q92912
    • Q93001

    Protein attributes for FGF12 Gene

    Size:
    243 amino acids
    Molecular mass:
    27399 Da
    Quaternary structure:
    • Interacts with the C-terminal region of SCN9A.

    Three dimensional structures from OCA and Proteopedia for FGF12 Gene

    Alternative splice isoforms for FGF12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGF12 Gene

Post-translational modifications for FGF12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for FGF12
  • Cloud-Clone Corp. Antibodies for FGF12

No data available for DME Specific Peptides for FGF12 Gene

Domains & Families for FGF12 Gene

Suggested Antigen Peptide Sequences for FGF12 Gene

Graphical View of Domain Structure for InterPro Entry

P61328

UniProtKB/Swiss-Prot:

FGF12_HUMAN :
  • Belongs to the heparin-binding growth factors family.
Family:
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF12: view

No data available for Gene Families for FGF12 Gene

Function for FGF12 Gene

Molecular function for FGF12 Gene

GENATLAS Biochemistry:
fibroblast growth homologous factor 12,expressed principally in the nervous system
UniProtKB/Swiss-Prot Function:
Involved in nervous system development and function. Promote neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation.

Gene Ontology (GO) - Molecular Function for FGF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0008083 growth factor activity IEA --
GO:0017080 sodium channel regulator activity ISS 12401812
GO:0044325 ion channel binding ISS 12401812
genes like me logo Genes that share ontologies with FGF12: view
genes like me logo Genes that share phenotypes with FGF12: view

Animal Models for FGF12 Gene

MGI Knock Outs for FGF12:

Animal Model Products

miRNA for FGF12 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FGF12 Gene

Localization for FGF12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF12 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FGF12 Gene COMPARTMENTS Subcellular localization image for FGF12 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for FGF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 10049777
GO:0005634 nucleus IDA 8790420
genes like me logo Genes that share ontologies with FGF12: view

Pathways & Interactions for FGF12 Gene

genes like me logo Genes that share pathways with FGF12: view

Gene Ontology (GO) - Biological Process for FGF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003254 regulation of membrane depolarization IEA --
GO:0007165 signal transduction TAS 8790420
GO:0007267 cell-cell signaling TAS 8790420
GO:0007268 chemical synaptic transmission IEA --
GO:0007399 nervous system development TAS 8790420
genes like me logo Genes that share ontologies with FGF12: view

No data available for SIGNOR curated interactions for FGF12 Gene

Transcripts for FGF12 Gene

Unigene Clusters for FGF12 Gene

Fibroblast growth factor 12:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGF12 Gene

No ASD Table

Relevant External Links for FGF12 Gene

GeneLoc Exon Structure for
FGF12
ECgene alternative splicing isoforms for
FGF12

Expression for FGF12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGF12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF12 Gene

This gene is overexpressed in Heart - Left Ventricle (x9.7), Heart - Atrial Appendage (x7.9), Brain - Frontal Cortex (BA9) (x4.3), and Adrenal Gland (x4.3).

Protein differential expression in normal tissues from HIPED for FGF12 Gene

This gene is overexpressed in Frontal cortex (29.3), Heart (21.8), and Fetal heart (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGF12 Gene



Protein tissue co-expression partners for FGF12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FGF12 Gene:

FGF12

SOURCE GeneReport for Unigene cluster for FGF12 Gene:

Hs.390250

mRNA Expression by UniProt/SwissProt for FGF12 Gene:

P61328-FGF12_HUMAN
Tissue specificity: Brain, eye and testis; highly expressed in embryonic retina, olfactory epithelium, olfactory bulb, and in a segmental pattern of the body wall; in adult olfactory bulb, less in cerebellum, deep cerebellar nuclei, cortex and multiple midbrain structures.
genes like me logo Genes that share expression patterns with FGF12: view

Primer Products

Orthologs for FGF12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGF12 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia FGF12 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 35
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FGF12 34 35
  • 96.02 (n)
rat
(Rattus norvegicus)
Mammalia Fgf12 34
  • 94.65 (n)
mouse
(Mus musculus)
Mammalia Fgf12 34 16 35
  • 94.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FGF12 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGF12 34 35
  • 89.85 (n)
lizard
(Anolis carolinensis)
Reptilia FGF12 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf12 34
  • 81.93 (n)
zebrafish
(Danio rerio)
Actinopterygii fgf12a 34 35
  • 79.44 (n)
fgf12b 35
  • 78 (a)
OneToMany
Species where no ortholog for FGF12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGF12 Gene

ENSEMBL:
Gene Tree for FGF12 (if available)
TreeFam:
Gene Tree for FGF12 (if available)

Paralogs for FGF12 Gene

genes like me logo Genes that share paralogs with FGF12: view

Variants for FGF12 Gene

Sequence variations from dbSNP and Humsavar for FGF12 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_076507 Epileptic encephalopathy, early infantile, 47 (EIEE47) [MIM:617166]
rs10048952 -- 192,452,025(+) ggatc(A/G)ccagt intron-variant
rs10049022 -- 192,549,933(+) tctag(C/T)ttgca intron-variant
rs10049147 -- 192,526,256(+) ACCTG(C/T)GCATA intron-variant
rs10049459 -- 192,143,326(+) TTAAA(C/T)TCATT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FGF12 Gene

Variant ID Type Subtype PubMed ID
dgv115e180 CNV loss 20482838
dgv2665n106 CNV deletion 24896259
dgv2666n106 CNV deletion 24896259
dgv5007n100 CNV gain 25217958
dgv5009n100 CNV gain 25217958
dgv5010n100 CNV gain 25217958
dgv846n67 CNV gain 20364138
dgv8800n54 CNV loss 21841781
dgv8801n54 CNV loss 21841781
dgv8802n54 CNV loss 21841781
dgv8803n54 CNV loss 21841781
dgv8804n54 CNV loss 21841781
dgv8805n54 CNV loss 21841781
dgv8806n54 CNV loss 21841781
dgv8807n54 CNV loss 21841781
dgv8808n54 CNV loss 21841781
dgv8809n54 CNV gain 21841781
dgv966e214 CNV loss 21293372
esv1005070 CNV deletion 20482838
esv1008599 CNV deletion 20482838
esv1010653 CNV deletion 20482838
esv1378514 CNV deletion 17803354
esv1987177 CNV deletion 18987734
esv21757 CNV loss 19812545
esv23512 CNV loss 19812545
esv23583 CNV loss 19812545
esv24127 CNV gain 19812545
esv2424454 CNV deletion 19546169
esv2570037 CNV deletion 19546169
esv2646061 CNV deletion 19546169
esv2657657 CNV deletion 23128226
esv2658995 CNV deletion 23128226
esv2664739 CNV deletion 23128226
esv2666877 CNV deletion 23128226
esv2671766 CNV deletion 23128226
esv2673240 CNV deletion 23128226
esv2673853 CNV deletion 23128226
esv2674424 CNV deletion 23128226
esv2675232 CNV deletion 23128226
esv2726409 CNV deletion 23290073
esv2726410 CNV deletion 23290073
esv2726411 CNV deletion 23290073
esv2726412 CNV deletion 23290073
esv2726413 CNV deletion 23290073
esv275589 CNV gain+loss 21479260
esv2759210 CNV gain 17122850
esv2832125 CNV deletion 24192839
esv28970 CNV loss 19812545
esv29615 CNV loss 19812545
esv3304523 CNV mobile element insertion 20981092
esv3305816 CNV mobile element insertion 20981092
esv3356196 CNV insertion 20981092
esv3387213 CNV insertion 20981092
esv3410175 CNV insertion 20981092
esv3411015 CNV insertion 20981092
esv3421948 CNV insertion 20981092
esv3447462 CNV insertion 20981092
esv3563107 CNV deletion 23714750
esv3563108 CNV deletion 23714750
esv3563109 CNV deletion 23714750
esv3563110 CNV deletion 23714750
esv3563111 CNV deletion 23714750
esv3569195 CNV loss 25503493
esv3569196 CNV loss 25503493
esv3569197 CNV loss 25503493
esv3569199 CNV loss 25503493
esv3569200 CNV loss 25503493
esv3569201 CNV loss 25503493
esv3599137 CNV loss 21293372
esv3599138 CNV loss 21293372
esv3599140 CNV gain 21293372
esv3599142 CNV gain 21293372
esv3599145 CNV loss 21293372
esv3599146 CNV loss 21293372
esv3599147 CNV loss 21293372
esv3599149 CNV loss 21293372
esv3599151 CNV loss 21293372
esv3599152 CNV loss 21293372
esv3599153 CNV loss 21293372
esv3599155 CNV loss 21293372
esv3599157 CNV loss 21293372
esv3893848 CNV loss 25118596
esv3914 CNV loss 18987735
esv8590 CNV loss 19470904
esv990918 CNV deletion 20482838
nsv1002806 CNV loss 25217958
nsv1073703 CNV deletion 25765185
nsv1149203 CNV deletion 26484159
nsv247 CNV insertion 15895083
nsv4170 CNV deletion 18451855
nsv4171 CNV insertion 18451855
nsv4172 CNV insertion 18451855
nsv435755 CNV deletion 17901297
nsv461124 CNV gain 19166990
nsv469781 CNV loss 16826518
nsv471138 CNV gain 18288195
nsv475145 CNV novel sequence insertion 20440878
nsv477560 CNV novel sequence insertion 20440878
nsv499079 CNV gain 21111241
nsv508976 CNV insertion 20534489
nsv592858 CNV loss 21841781
nsv592866 CNV gain 21841781
nsv592881 CNV loss 21841781
nsv592883 CNV loss 21841781
nsv819296 CNV loss 19587683
nsv819527 CNV gain 19587683
nsv822388 CNV loss 20364138
nsv822389 CNV loss 20364138
nsv829822 CNV gain 17160897
nsv950289 CNV duplication 24416366
nsv956269 CNV deletion 24416366
nsv956293 CNV deletion 24416366
nsv963555 CNV duplication 23825009
nsv997731 CNV loss 25217958

Variation tolerance for FGF12 Gene

Residual Variation Intolerance Score: 23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGF12 Gene

Human Gene Mutation Database (HGMD)
FGF12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF12 Gene

Disorders for FGF12 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FGF12 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 47
  • eiee47
undetermined early-onset epileptic encephalopathy
  • undetermined eoee
cerebral visual impairment
  • cortical visual impairment
brugada syndrome
  • sudden unexpected nocturnal death syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FGF12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF12_HUMAN
  • Note=FGF12 mutations are a cause of early infantile epileptic encephalopathy with progressive cerebellar atrophy. A form of epilepsy characterized by frequent tonic seizures beginning in infancy, with a typical ictal EEG pattern of low voltage fast activity, followed by a long suppression of the background. Patients develop profound intellectual disability, acquired microcephally, axial hypotonia, ataxia, severe feeding difficulties, cerebral visual impairment, absent speech development, and sudden death in epilepsy. {ECO:0000269 PubMed:27164707}.

Relevant External Links for FGF12

Genetic Association Database (GAD)
FGF12
Human Genome Epidemiology (HuGE) Navigator
FGF12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGF12
genes like me logo Genes that share disorders with FGF12: view

No data available for Genatlas for FGF12 Gene

Publications for FGF12 Gene

  1. Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. (PMID: 8790420) Smallwood P.M. … Nathans J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 64
  2. Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. (PMID: 27164707) Siekierska A. … Buyse G.M. (Neurology 2016) 3 4 64
  3. 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. (PMID: 21139019) Walsh K.M. … Hoh J. (Endocr. Relat. Cancer 2011) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64

Products for FGF12 Gene

Sources for FGF12 Gene

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