Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Entrez ID 8822
Gene name Fibroblast growth factor 17
Gene symbol FGF17
Synonyms (NCBI Gene)
FGF-13FGF-17HH20
Chromosome 8
Chromosome location 8p21.3
Summary This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morp
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs398123024 T>C Risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
32 Show/Hide all (32)
miRTarBase ID miRNA Experiments Reference
MIRT018870 hsa-miR-335-5p Microarray 18185580
MIRT995595 hsa-miR-1202 CLIP-seq
MIRT995596 hsa-miR-1227 CLIP-seq
MIRT995597 hsa-miR-1266 CLIP-seq
MIRT995598 hsa-miR-3194-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26 Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0005105 Function Type 1 fibroblast growth factor receptor binding IBA
GO:0005105 Function Type 1 fibroblast growth factor receptor binding IDA 16384934
GO:0005105 Function Type 1 fibroblast growth factor receptor binding IEA
GO:0005111 Function Type 2 fibroblast growth factor receptor binding IBA
GO:0005111 Function Type 2 fibroblast growth factor receptor binding IDA 16384934
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603725 3673 ENSG00000158815
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60258
Protein name Fibroblast growth factor 17 (FGF-17)
Protein function Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 53 → 175 Fibroblast growth factor Domain
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in the embryonic brain.
Sequence
MGAARLLPNLTLCLQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLSRRQIREYQLYSR
TSGKHVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKP
SGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFI
KRLYQ
GQLPFPNHAEKQKQFEFVGSAPTRRTKRTRRPQPLT
Sequence length 216
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
MAPK signaling pathway PI3K Cascade
Ras signaling pathway PIP3 activates AKT signaling
Rap1 signaling pathway Signaling by activated point mutants of FGFR1
Calcium signaling pathway Signaling by activated point mutants of FGFR3
PI3K-Akt signaling pathway FGFR4 ligand binding and activation
Regulation of actin cytoskeleton FGFR3b ligand binding and activation
Pathways in cancer FGFR3c ligand binding and activation
Chemical carcinogenesis - receptor activation FGFR1c ligand binding and activation
Melanoma FGFR2c ligand binding and activation
Breast cancer FGFR3 mutant receptor activation
Gastric cancer Activated point mutants of FGFR2
  Constitutive Signaling by Aberrant PI3K in Cancer
  Phospholipase C-mediated cascade: FGFR1
  Phospholipase C-mediated cascade; FGFR2
  Phospholipase C-mediated cascade; FGFR3
  Phospholipase C-mediated cascade; FGFR4
  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
  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 FGFR1 signaling
  Negative regulation of FGFR2 signaling
  Negative regulation of FGFR3 signaling
  Negative regulation of FGFR4 signaling
  Signaling by FGFR2 in disease
  Signaling by FGFR1 in disease
  FGFRL1 modulation of FGFR1 signaling
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypogonadotropic hypogonadism 20 without anosmia Pathogenic rs398123025 RCV000043599
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Show/Hide Unknown Diseases (24)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (63)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anterior hypopituitarism Hypopituitarism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 15129425, 15538740
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder PSYGENET_DG 19204725
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blepharoptosis Ptosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18310279
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 34061869 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cartilage-hair hypoplasia Cartilage-Hair Hypoplasia BEFREE 23643382
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital absence of kidneys syndrome Renal agenesis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Camptodactyly Congenital Camptodactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only