Human Gene FGF3 (ENST00000334134.4) from GENCODE V44
Description: Homo sapiens fibroblast growth factor 3 (FGF3), mRNA. (from RefSeq NM_005247) RefSeq Summary (NM_005247): 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 gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000334134.4 Gencode Gene: ENSG00000186895.4 Transcript (Including UTRs) Position: hg38 chr11:69,809,968-69,819,416 Size: 9,449 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr11:69,810,305-69,818,933 Size: 8,629 Coding Exon Count: 3
ID:FGF3_HUMAN DESCRIPTION: RecName: Full=Fibroblast growth factor 3; Short=FGF-3; AltName: Full=Heparin-binding growth factor 3; Short=HBGF-3; AltName: Full=Proto-oncogene Int-2; Flags: Precursor; FUNCTION: Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development. SUBUNIT: Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors. SUBCELLULAR LOCATION: Secreted (Potential). DISEASE: Defects in FGF3 are a cause of deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]; also known as congenital deafness with inner ear agenesis, microtia and microdontia. LAMM consists of a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). SIMILARITY: Belongs to the heparin-binding growth factors family.
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.
ModBase Predicted Comparative 3D Structure on P11487
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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.