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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
  • FGF-12 3 4
  • FHF-1 3 4
  • FHF1 3 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 Brugada Syndrome. Among its related pathways are Glioma and p70S6K Signaling. GO annotations related to this gene include growth factor activity and ion channel binding. An important paralog of this gene is FGF22.

UniProtKB/Swiss-Prot for FGF12 Gene

  • Probably involved in nervous system development and function.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for FGF12 Gene at MOPED

Post-translational modifications for FGF12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FGF12 Gene

Antibody Products

  • Abcam 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:
Probably involved in nervous system development and function.

Gene Ontology (GO) - Molecular Function for FGF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0017080 sodium channel regulator activity 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

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

No data available for Gene Ontology (GO) - Cellular Components for FGF12 Gene

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:0007165 signal transduction TAS 8790420
GO:0007267 cell-cell signaling TAS 8790420
GO:0007268 synaptic transmission IEA --
GO:0007399 nervous system development TAS 8790420
GO:0008543 fibroblast growth factor receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with FGF12: view

No data available for SIGNOR curated interactions for FGF12 Gene

Drugs & Compounds for FGF12 Gene

No Compound Related Data Available

Transcripts for FGF12 Gene

Unigene Clusters for FGF12 Gene

Fibroblast growth factor 12:
Representative Sequences:

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 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



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

Protein tissue co-expression partners for FGF12 Gene

- Elite partner

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
dog
(Canis familiaris)
Mammalia FGF12 35
  • 96.02 (n)
  • 100 (a)
FGF12 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fgf12 35
  • 94.24 (n)
  • 100 (a)
Fgf12 16
Fgf12 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FGF12 35
  • 100 (n)
  • 100 (a)
FGF12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgf12 35
  • 94.65 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FGF12 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGF12 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGF12 35
  • 89.85 (n)
  • 98.77 (a)
FGF12 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGF12 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf12 35
  • 81.93 (n)
  • 89.47 (a)
zebrafish
(Danio rerio)
Actinopterygii fgf12a 35
  • 79.44 (n)
  • 90.83 (a)
fgf12a 36
  • 91 (a)
OneToMany
fgf12b 36
  • 78 (a)
OneToMany
Species with no ortholog for FGF12:
  • 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

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
rs3416 -- 192,542,711(+) GCCCC(A/G)TCTGT intron-variant
rs722601 -- 192,199,285(+) ACTAA(A/G)TAGTA intron-variant
rs1847340 -- 192,562,297(+) TGTAT(A/G)TCTTG intron-variant
rs1847341 -- 192,603,905(-) TAGGA(A/T)TGGGG intron-variant
rs1847342 -- 192,603,815(-) aatac(A/G)tgcac intron-variant

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

Variant ID Type Subtype PubMed ID
esv2646061 CNV Deletion 19546169
esv1010653 CNV Deletion 20482838
esv2726409 CNV Deletion 23290073
esv2675232 CNV Deletion 23128226
esv23512 CNV Loss 19812545
esv2658995 CNV Deletion 23128226
nsv4170 CNV Loss 18451855
esv275589 CNV Gain+Loss 21479260
nsv508976 CNV Insertion 20534489
nsv247 CNV Insertion 15895083
nsv4171 CNV Insertion 18451855
dgv5361n71 CNV Loss 21882294
dgv5362n71 CNV Gain 21882294
nsv435755 CNV Deletion 17901297
nsv499079 CNV Gain 21111241
esv2726410 CNV Deletion 23290073
nsv878117 CNV Gain 21882294
nsv878120 CNV Gain 21882294
nsv819296 CNV Loss 19587683
dgv846n67 CNV Gain 20364138
esv24127 CNV Gain 19812545
nsv819527 CNV Gain 19587683
esv272002 CNV Insertion 20981092
esv270766 CNV Insertion 20981092
esv2570037 CNV Deletion 19546169
esv1987177 CNV Deletion 18987734
esv3914 CNV Deletion 18987735
esv1008599 CNV Deletion 20482838
esv2726411 CNV Deletion 23290073
esv8590 CNV Loss 19470904
esv1378514 CNV Deletion 17803354
dgv1545e1 CNV Complex 17122850
esv2657657 CNV Deletion 23128226
esv2726412 CNV Deletion 23290073
nsv822388 CNV Loss 20364138
esv2673240 CNV Deletion 23128226
esv2673853 CNV Deletion 23128226
esv23583 CNV Loss 19812545
esv270093 CNV Insertion 20981092
nsv829822 CNV Gain 17160897
nsv4172 CNV Insertion 18451855
esv990918 CNV Deletion 20482838
nsv878121 CNV Loss 21882294
esv2666877 CNV Deletion 23128226
nsv822389 CNV Loss 20364138
esv2671766 CNV Deletion 23128226
esv29615 CNV Loss 19812545
nsv469781 CNV Loss 16826518
esv2424454 CNV Deletion 19546169
esv2674424 CNV Deletion 23128226
esv2726413 CNV Deletion 23290073
esv21757 CNV Loss 19812545
esv272643 CNV Insertion 20981092
esv268801 CNV Insertion 20981092
esv28970 CNV Loss 19812545
esv1005070 CNV Deletion 20482838
dgv115e180 CNV Loss 20482838
esv2664739 CNV Deletion 23128226
nsv471138 CNV Gain 18288195
nsv878122 CNV Gain 21882294
nsv461124 CNV Gain 19166990

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

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

Disorders for FGF12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FGF12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
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

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 UniProtKB/Swiss-Prot and 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 67
  2. Assignment of FGF12, the human FGF homologous factor 1 gene, to chromosome 3q29-->3qter by fluorescence in situ hybridization. (PMID: 9345906) Liu Y. … Chiu I.M. (Cytogenet. Cell Genet. 1997) 2 3
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. (PMID: 26392562) Musa H. … Mohler P.J. (Proc. Natl. Acad. Sci. U.S.A. 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for FGF12 Gene

Sources for FGF12 Gene

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