FGF14 (fibroblast growth factor 14)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2259
Gene name Gene Name - the full gene name approved by the HGNC.
Fibroblast growth factor 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FGF14
Synonyms (NCBI Gene) Gene synonyms aliases
FGF-14, FHF-4, FHF4, NYS4, SCA27, SCA27A, SCA27B
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs104894393 A>G Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs587776685 T>- Pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555370787 T>A Pathogenic Stop gained, genic downstream transcript variant, coding sequence variant
rs1566823361 ->G Likely-pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(57)
miRTarBase ID miRNA Experiments Reference
MIRT608846 hsa-miR-511-3p HITS-CLIP 21572407
MIRT608845 hsa-miR-223-5p HITS-CLIP 21572407
MIRT608844 hsa-miR-6867-5p HITS-CLIP 21572407
MIRT608843 hsa-miR-4455 HITS-CLIP 21572407
MIRT608842 hsa-miR-574-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0005104 Function Fibroblast growth factor receptor binding IDA 12815063
GO:0005515 Function Protein binding IPI 22364545, 25659151, 26900580, 32296183, 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601515 3671 ENSG00000102466
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q92915
Protein name Fibroblast growth factor 14 (FGF-14) (Fibroblast growth factor homologous factor 4) (FHF-4)
Protein function Probably involved in nervous system development and function.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 71 → 197 Fibroblast growth factor Domain
Tissue specificity TISSUE SPECIFICITY: Nervous system.
Sequence 
MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVRIFGLKKRR
LRRQDPQLKGIVTRLYCRQGYYLQMHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVK
TGLYIAMNGEGYLYPSELFTPECKFKESVFENYYVIYSSMLYRQQESGRAWFLGLNKEGQ
AMKGNRVKKTKPAAHFLPKPLEVAMYREPSLHDVGETVPKPGVTPSKSTSASAIMNGGKP
VNKSKTT
Sequence length 247
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
  Spinocerebellar ataxia   Phase 0 - rapid depolarisation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia Spinocerebellar ataxia 27A, spinocerebellar ataxia type 27 rs104894393, rs587776685, rs1555370787 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cerebellar Ataxia Autosomal dominant cerebellar ataxia, autosomal recessive cerebellar ataxia N/A N/A ClinVar, GenCC
Insomnia Insomnia N/A N/A GWAS
Preeclampsia Preeclampsia N/A N/A GWAS
Show/Hide Text Mining Associations (50)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 16166153, 36207621, 36493768, 37322040, 37460234, 37916889, 38150853, 38487929, 40156335, 40191983
Ataxia Sensory Autosomal Dominant Associate 40156335
Autistic Disorder Associate 32717741
Autoimmune Diseases Associate 37460234
Autoimmune Diseases of the Nervous System Associate 37460234
Autonomic Nervous System Diseases Associate 36493768
Brain Diseases Associate 37460234
Brain Stem Neoplasms Associate 37460234
Breast Neoplasms Associate 36216883
Carcinoma Associate 31467233