FGF3 (fibroblast growth factor 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2248
Gene name Fibroblast growth factor 3
Gene symbol FGF3
Synonyms (NCBI Gene)
HBGF-3INT2
Chromosome 11
Chromosome location 11q13.3
Summary 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
SNPs SNP information provided by dbSNP.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
SNP ID Visualize variation Clinical significance Consequence
rs121917703 A>G Pathogenic Coding sequence variant, missense variant
rs121917704 G>A Pathogenic Coding sequence variant, stop gained
rs281860302 A>- Pathogenic Coding sequence variant, frameshift variant
rs281860303 G>A,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant, synonymous variant
rs281860304 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT043743 hsa-miR-328-3p CLASH 23622248
MIRT1995272 hsa-miR-3064-3p CLIP-seq
MIRT1995273 hsa-miR-3074-5p CLIP-seq
MIRT1995274 hsa-miR-4722-3p CLIP-seq
MIRT1995275 hsa-miR-516a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0005104 Function Fibroblast growth factor receptor binding IBA
GO:0005515 Function Protein binding IPI 16263090
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS 2470007
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
164950 3681 ENSG00000186895
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11487
Protein name Fibroblast growth factor 3 (FGF-3) (Heparin-binding growth factor 3) (HBGF-3) (Proto-oncogene Int-2)
Protein function Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 44 → 179 Fibroblast growth factor Domain
Sequence 
MGLIWLLLLSLLEPGWPAAGPGARLRRDAGGRGGVYEHLGGAPRRRKLYCATKYHLQLHP
SGRVNGSLENSAYSILEITAVEVGIVAIRGLFSGRYLAMNKRGRLYASEHYSAECEFVER
IHELGYNTYASRLYRTVSSTPGARRQPSAERLWYVSVNGKGRPRRGFKTRRTQKSSLFLP
RVLDHRDHEMVRQLQSGLPRPPGKGVQPRRRRQKQSPDNLEPSHVQASRLGSQLEASAH
Sequence length 239
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
FGFR1b ligand binding and activation
FGFR2b ligand binding and activation
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade: FGFR1
Phospholipase C-mediated cascade; FGFR2
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
PI-3K cascade:FGFR2
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Signaling by FGFR2 in disease
FGFRL1 modulation of FGFR1 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Deafness with labyrinthine aplasia, microtia, and microdontia Likely pathogenic; Pathogenic rs2119905910, rs121917703, rs121917704, rs281860305, rs121917705, rs121917706, rs281860302, rs281860306, rs281860307, rs1554981083, rs281860303, rs374453035, rs782712529 RCV002222962
RCV000014849
RCV000014850
RCV000014851
RCV000014852
View all (8 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FGF3-related disorder Likely pathogenic; Pathogenic rs1434810965, rs121917704, rs281860303 RCV004754962
RCV003398511
RCV003982855
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT LIP — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (173)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 1552612, 2400999, 7896186
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 8100831
★★★★★
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 24002438
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form Amelogenesis imperfecta Pubtator 17236138, 36934406 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 23549991 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 19621416
★★★★★
★☆☆☆☆
Found in Text Mining only
Atypical Ductal Breast Hyperplasia Breast Hyperplasia BEFREE 9006344
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 12429977
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 12910517, 23911686, 2474139, 8622895
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma CGI_DG
★★★★★
★☆☆☆☆
Found in Text Mining only