Human Gene FGF12 (ENST00000454309.6) Description and Page Index
  Description: Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA. (from RefSeq NM_021032)
RefSeq Summary (NM_021032): 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].
Gencode Transcript: ENST00000454309.6
Gencode Gene: ENSG00000114279.13
Transcript (Including UTRs)
   Position: hg38 chr3:192,142,509-192,409,049 Size: 266,541 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr3:192,144,009-192,408,223 Size: 264,215 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:192,142,509-192,409,049)mRNA (may differ from genome)Protein (243 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FGF12_HUMAN
DESCRIPTION: RecName: Full=Fibroblast growth factor 12; Short=FGF-12; AltName: Full=Fibroblast growth factor homologous factor 1; Short=FHF-1; AltName: Full=Myocyte-activating factor;
FUNCTION: Probably involved in nervous system development and function.
SUBUNIT: Interacts with the C-terminal region of SCN9A (By similarity).
SUBCELLULAR LOCATION: Nucleus (Probable).
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.
SIMILARITY: Belongs to the heparin-binding growth factors family.

-  MalaCards Disease Associations
  MalaCards Gene Search: FGF12
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 47* (1230), undetermined early-onset epileptic encephalopathy* (85), deafness, autosomal dominant 44 (12), brugada syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.14 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 146.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -308.10826-0.373 Picture PostScript Text
3' UTR -347.501500-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008996 - Cytokine_IL1-like
IPR002209 - GF_heparin-bd
IPR002348 - IL1_HBGF

Pfam Domains:
PF00167 - Fibroblast growth factor

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1Q1U
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P61328
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0008201 heparin binding
GO:0017080 sodium channel regulator activity
GO:0044325 ion channel binding
GO:0005104 fibroblast growth factor receptor binding

Biological Process:
GO:0003254 regulation of membrane depolarization
GO:0007165 signal transduction
GO:0007254 JNK cascade
GO:0007267 cell-cell signaling
GO:0007268 chemical synaptic transmission
GO:0007399 nervous system development
GO:0007507 heart development
GO:0008344 adult locomotory behavior
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010469 regulation of receptor activity
GO:0010765 positive regulation of sodium ion transport
GO:0050905 neuromuscular process
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0098908 regulation of neuronal action potential
GO:1902305 regulation of sodium ion transmembrane transport
GO:1905150 regulation of voltage-gated sodium channel activity
GO:2000649 regulation of sodium ion transmembrane transporter activity
GO:2001258 negative regulation of cation channel activity

Cellular Component:
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC022524 - Homo sapiens fibroblast growth factor 12, mRNA (cDNA clone MGC:26659 IMAGE:4794600), complete cds.
AK125307 - Homo sapiens cDNA FLJ43317 fis, clone NT2RI2017529, highly similar to Fibroblast growth factor 12.
U76381 - Homo sapiens fibroblast growth factor (FGF-12b) mRNA, complete cds.
DQ890604 - Synthetic construct clone IMAGE:100003234; FLH165423.01X; RZPDo839C02160D fibroblast growth factor 12 (FGF12) gene, encodes complete protein.
U66197 - Human fibroblast growth factor homologous factor 1 (FHF-1) mRNA, complete cds.
AK313671 - Homo sapiens cDNA, FLJ94255, Homo sapiens fibroblast growth factor 12 (FGF12), transcriptvariant 1, mRNA.
AK312513 - Homo sapiens cDNA, FLJ92878, Homo sapiens fibroblast growth factor 12 (FGF12), transcriptvariant 2, mRNA.
KJ896816 - Synthetic construct Homo sapiens clone ccsbBroadEn_06210 FGF12 gene, encodes complete protein.
DQ893775 - Synthetic construct Homo sapiens clone IMAGE:100008235; FLH165419.01L; RZPDo839C02159D fibroblast growth factor 12 (FGF12) gene, encodes complete protein.
AB590287 - Synthetic construct DNA, clone: pFN21AE1470, Homo sapiens FGF12 gene for fibroblast growth factor 12, without stop codon, in Flexi system.
CU692674 - Synthetic construct Homo sapiens gateway clone IMAGE:100020173 5' read FGF12 mRNA.
Z70276 - H.sapiens mRNA for fibroblast growth factor 12 (partial).
JD250887 - Sequence 231911 from Patent EP1572962.
JD280348 - Sequence 261372 from Patent EP1572962.
JD323689 - Sequence 304713 from Patent EP1572962.
JD565030 - Sequence 546054 from Patent EP1572962.
CQ873839 - Sequence 258 from Patent WO2004076622.
DD413676 - Regulation of Mammalian Cells.
JD258159 - Sequence 239183 from Patent EP1572962.
JD275401 - Sequence 256425 from Patent EP1572962.
JD072745 - Sequence 53769 from Patent EP1572962.
JD315135 - Sequence 296159 from Patent EP1572962.
JD327421 - Sequence 308445 from Patent EP1572962.
JD432015 - Sequence 413039 from Patent EP1572962.
JD360256 - Sequence 341280 from Patent EP1572962.
JD402538 - Sequence 383562 from Patent EP1572962.
JD519498 - Sequence 500522 from Patent EP1572962.
JD440373 - Sequence 421397 from Patent EP1572962.
JD265724 - Sequence 246748 from Patent EP1572962.
LF212675 - JP 2014500723-A/20178: Polycomb-Associated Non-Coding RNAs.
MA448252 - JP 2018138019-A/20178: Polycomb-Associated Non-Coding RNAs.
LF210574 - JP 2014500723-A/18077: Polycomb-Associated Non-Coding RNAs.
MA446151 - JP 2018138019-A/18077: Polycomb-Associated Non-Coding RNAs.
LF338866 - JP 2014500723-A/146369: Polycomb-Associated Non-Coding RNAs.
MA574443 - JP 2018138019-A/146369: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04810 - Regulation of actin cytoskeleton
hsa05200 - Pathways in cancer
hsa05218 - Melanoma

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6B7, B2R976, FGF12B, FGF12_HUMAN, FHF1, NM_021032, O35339, P61328, P70376, Q8TBG5, Q92912, Q93001, uc003fsx.1, uc003fsx.2, uc003fsx.3, uc003fsx.4
UCSC ID: uc003fsx.4
RefSeq Accession: NM_021032
Protein: P61328 (aka FGF12_HUMAN or FGFC_HUMAN)
CCDS: CCDS3301.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FGF12:
ataxias (Hereditary Ataxia Overview)
brugada (Brugada Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.