Gene Gene information from NCBI Gene database.
Entrez ID 2259
Gene name Fibroblast growth factor 14
Gene symbol FGF14
Synonyms (NCBI Gene)
FGF-14FHF-4FHF4NYS4SCA27SCA27ASCA27B
Chromosome 13
Chromosome location 13q33.1
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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601515 3671 ENSG00000102466
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
AMKGNRVKKTKPAAHFL
PKPLEVAMYREPSLHDVGETVPKPGVTPSKSTSASAIMNGGKP
VNKSKTT
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spinocerebellar ataxia   Phase 0 - rapid depolarisation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
Cerebellar ataxia Pathogenic rs2047659273 RCV002508353
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGF14-related disorder Likely pathogenic rs2501856727 RCV003408225
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia 27A Pathogenic; Likely pathogenic rs865878627, rs2501931660, rs104894393, rs587776685, rs2548901390, rs2501931899, rs1555370787 RCV002291320
RCV002291254
RCV002472354
RCV002472355
RCV003984960
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia 27B, late-onset Pathogenic rs2047659273 RCV003128119
★★★★☆
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.
Phenotype Name Clinical Significance Source Evidence Score
ATAXIA, SPINOCEREBELLAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant cerebellar ataxia Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Akinesia Akinesia HPO_DG
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 28522250
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 16166153, 36207621, 36493768, 37322040, 37460234, 37916889, 38150853, 38487929, 40156335, 40191983 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Sensory Autosomal Dominant Ataxia, sensory, autosomal dominant Pubtator 40156335 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia LHGDN 15365159, 16211615
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 16211615, 19621416, 21600715
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 32717741 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 37460234 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases of the Nervous System Autoimmune nervous system disorder Pubtator 37460234 Associate
★☆☆☆☆
Found in Text Mining only