Gene Gene information from NCBI Gene database.
Entrez ID 8823
Gene name Fibroblast growth factor 16
Gene symbol FGF16
Synonyms (NCBI Gene)
FGF-16MF4
Chromosome X
Chromosome location Xq21.1
Summary This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and i
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs587777050 C>T Pathogenic Stop gained, coding sequence variant
rs587777051 C>A Pathogenic Stop gained, coding sequence variant
rs606231304 ->GAATCCTGGAGTTTATCAG Likely-pathogenic, pathogenic Splice acceptor variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT016941 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PITX2 Unknown 24253043
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001936 Process Regulation of endothelial cell proliferation IDA 16756958
GO:0005104 Function Fibroblast growth factor receptor binding IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300827 3672 ENSG00000196468
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43320
Protein name Fibroblast growth factor 16 (FGF-16)
Protein function Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 61 187 Fibroblast growth factor Domain
Sequence
Sequence length 207
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Regulation of actin cytoskeleton
Pathways in cancer
Chemical carcinogenesis - receptor activation
Melanoma
Breast cancer
Gastric cancer
  PI3K Cascade
PIP3 activates AKT signaling
Signaling by activated point mutants of FGFR3
FGFR4 ligand binding and activation
FGFR3c ligand binding and activation
FGFR2c ligand binding and activation
FGFR3 mutant receptor activation
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade; FGFR2
Phospholipase C-mediated cascade; FGFR3
Phospholipase C-mediated cascade; FGFR4
PI-3K cascade:FGFR2
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
SHC-mediated cascade:FGFR3
FRS-mediated FGFR3 signaling
PI-3K cascade:FGFR3
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
PI-3K cascade:FGFR4
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
Signaling by FGFR2 in disease
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by FGFR3 point mutants in cancer
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FGF16-related disorder Likely pathogenic rs2519850121 RCV003400001
Syndactyly type 8 Likely pathogenic; Pathogenic rs606231304, rs587777050, rs587777051 RCV000148011
RCV000056296
RCV000056297
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amenorrhea Associate 25747126
Attention Deficit and Disruptive Behavior Disorders Associate 40082977
Autism Spectrum Disorder Associate 40082977
Breast Neoplasms Associate 37222403
Diabetic Retinopathy Associate 31292167
Inflammation Associate 40082977
Neoplasms Associate 24253043
Ovarian Neoplasms Stimulate 24253043
Schizophrenia Associate 40082977
Stomach Neoplasms Associate 33661721