Gene Gene information from NCBI Gene database.
Entrez ID 2255
Gene name Fibroblast growth factor 10
Gene symbol FGF10
Synonyms (NCBI Gene)
LADD3
Chromosome 5
Chromosome location 5p12
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, cel
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs104893884 G>A,C Pathogenic Coding sequence variant, missense variant, stop gained
rs104893886 A>C Pathogenic Coding sequence variant, missense variant
rs104893887 T>A Pathogenic Coding sequence variant, stop gained
rs104893889 C>T Pathogenic Coding sequence variant, missense variant
rs1554035469 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
156
miRTarBase ID miRNA Experiments Reference
MIRT018544 hsa-miR-335-5p Microarray 18185580
MIRT633902 hsa-miR-6748-3p HITS-CLIP 23824327
MIRT633901 hsa-miR-4421 HITS-CLIP 23824327
MIRT633900 hsa-miR-5699-3p HITS-CLIP 23824327
MIRT633899 hsa-miR-6841-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
GATA4 Unknown 22303449
ISL1 Unknown 22303449
TBX20 Unknown 22303449
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
170
GO ID Ontology Definition Evidence Reference
GO:0000132 Process Establishment of mitotic spindle orientation IEA
GO:0000278 Process Mitotic cell cycle IEA
GO:0001525 Process Angiogenesis IEA
GO:0001656 Process Metanephros development IEP 18437684
GO:0001759 Process Organ induction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602115 3666 ENSG00000070193
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15520
Protein name Fibroblast growth factor 10 (FGF-10) (Keratinocyte growth factor 2)
Protein function Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing.
PDB 1NUN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 78 202 Fibroblast growth factor Domain
Sequence
Sequence length 208
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
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
63
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital absence of salivary gland Likely pathogenic; Pathogenic rs2478349923, rs104893884, rs104893887, rs104893889, rs2478544218 RCV002463401
RCV000007964
RCV000007968
RCV000007971
RCV004594805
Lacrimoauriculodentodigital syndrome 3 Pathogenic rs104893885, rs104893886, rs104893887, rs2478542924, rs2478542933 RCV003151710
RCV003151711
RCV003151712
RCV003445414
RCV003493405
Levy-Hollister syndrome Pathogenic; Likely pathogenic rs1446723373, rs2478349923, rs1554035469, rs1554035757, rs1554035763, rs1554040361, rs1554040364, rs1554040396 RCV002471161
RCV002463401
RCV000659647
RCV000659645
RCV000659644
RCV000659643
RCV000659641
RCV000659640
Lung adenocarcinoma Pathogenic rs768184879 RCV003129628
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FGF10-related disorder Benign; Likely benign; Uncertain significance rs145373611, rs147715509, rs1742166191, rs747476439, rs886060654, rs143865624, rs766097540, rs1332768200 RCV003927583
RCV003967784
RCV003416890
RCV003412278
RCV003950253
RCV003971882
RCV003969433
RCV003403519
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35668376
Aplasia of Lacrimal and Salivary Glands Associate 19102732
Arthritis Rheumatoid Associate 39342401
Autism Spectrum Disorder Associate 21996756
Brain Neoplasms Associate 37423059
Breast Neoplasms Associate 21767389, 22665522, 23527311, 27640304, 35668376
Bronchopulmonary Dysplasia Associate 29722558
Carcinoma Acinar Cell Associate 33967277
Cholangiocarcinoma Associate 37369494
Cleft Lip Associate 19137569, 22074045