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    FGF14 fibroblast growth factor 14 [ Homo sapiens (human) ]

    Gene ID: 2259, updated on 22-Apr-2024

    Summary

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    Official Symbol
    FGF14provided by HGNC
    Official Full Name
    fibroblast growth factor 14provided by HGNC
    Primary source
    HGNC:HGNC:3671
    See related
    Ensembl:ENSG00000102466 MIM:601515; AllianceGenome:HGNC:3671
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FHF4; NYS4; FHF-4; SCA27; FGF-14; SCA27A; SCA27B
    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 growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 5.0), adrenal (RPKM 1.3) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q33.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (101710804..102402443, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (100926801..101618453, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (102363154..103054793, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene NALCN antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 411 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:101698875-101699376 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:101701141-101702340 Neighboring gene uncharacterized LOC124903202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101717146-101717646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101717647-101718147 Neighboring gene sodium leak channel, non-selective Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:101909917-101911116 Neighboring gene NANOG hESC enhancer GRCh37_chr13:101986545-101987100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:102068211-102068761 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:102067660-102068210 Neighboring gene Sharpr-MPRA regulatory region 15039 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:102102071-102103270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:102104604-102105108 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:102126208-102126708 Neighboring gene Sharpr-MPRA regulatory region 3234 Neighboring gene integrin subunit beta like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:102341159-102341390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:102360299-102360823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7963 Neighboring gene NANOG hESC enhancer GRCh37_chr13:102403785-102404286 Neighboring gene Sharpr-MPRA regulatory region 11112 Neighboring gene RNA, U1 small nuclear 24, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr13:102570626-102571127 Neighboring gene high mobility group box 3 pseudogene 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:102720635-102721136 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:102721137-102721636 Neighboring gene microRNA 2681 Neighboring gene lipoyltransferase 1 pseudogene 1 Neighboring gene LINE-1 type transposase domain containing 1 pseudogene 1 Neighboring gene RNY1 pseudogene 2 Neighboring gene microRNA 4705 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:102844049-102845248 Neighboring gene uncharacterized LOC107984615 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:102985874-102986457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:103004521-103005022 Neighboring gene FGF14 intronic transcript 1 Neighboring gene ribosomal protein L39 pseudogene 29 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7964 Neighboring gene FGF14 antisense RNA 1 Neighboring gene FGF14 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7965 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr13:103244249-103244798 and GRCh37_chr13:103244799-103245346 Neighboring gene uncharacterized LOC107984588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5482 Neighboring gene tripeptidyl peptidase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.
      Title: The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.
    2. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
      Title: GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
    3. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
      Title: The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
    4. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
      Title: Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
    5. Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
      Title: Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
    6. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
      Title: Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
    7. MiR-1246b, a novel miRNA molecule of extracellular vesicles in bronchoalveolar lavage fluid, promotes nodule growth through FGF14 in patients with lung cancer.
      Title: MiR-1246b, a novel miRNA molecule of extracellular vesicles in bronchoalveolar lavage fluid, promotes nodule growth through FGF14 in patients with lung cancer.
    8. Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
      Title: Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
    9. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
      Title: GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
    10. Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family.
      Title: Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spinocerebellar ataxia 27A
    MedGen: CN031884 OMIM: 193003 GeneReviews: Not available
    		not available
    Spinocerebellar ataxia 27B, late-onset
    MedGen: C5774278 OMIM: 620174 GeneReviews: GAA-FGF14-Related Ataxia
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog
    Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.
    EBI GWAS Catalog
    Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    EBI GWAS Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC119129

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sodium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of voltage-gated sodium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    fibroblast growth factor 14
    Names
    fibroblast growth factor homologous factor 4
    nystagmus 4, congenital autosomal dominant

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008317.3 RefSeqGene

      Range
      490498..696639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321931.1 → NP_001308860.1  fibroblast growth factor 14 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL161899, AL356266, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PX77
      Conserved Domains (1) summary
      pfam00167
      Location:1 → 113
      FGF; Fibroblast growth factor

    2. NM_001321932.1 → NP_001308861.1  fibroblast growth factor 14 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL161899, AL356266, AL512629, AL591909
      Conserved Domains (1) summary
      pfam00167
      Location:9 → 134
      FGF; Fibroblast growth factor

    3. NM_001321933.1 → NP_001308862.1  fibroblast growth factor 14 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL161899, AL356266, AL512629, AL591909
      Conserved Domains (1) summary
      pfam00167
      Location:12 → 137
      FGF; Fibroblast growth factor

    4. NM_001321934.1 → NP_001308863.1  fibroblast growth factor 14 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356266, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PX77
      Conserved Domains (1) summary
      pfam00167
      Location:1 → 113
      FGF; Fibroblast growth factor

    5. NM_001321935.1 → NP_001308864.1  fibroblast growth factor 14 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356266, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PX77
      Conserved Domains (1) summary
      pfam00167
      Location:1 → 113
      FGF; Fibroblast growth factor

    6. NM_001321936.1 → NP_001308865.1  fibroblast growth factor 14 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL161899, AL356266, AL512629, AL591909
      Conserved Domains (1) summary
      pfam00167
      Location:9 → 134
      FGF; Fibroblast growth factor

    7. NM_001321937.2 → NP_001308866.1  fibroblast growth factor 14 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL356263, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PXI9
      Conserved Domains (1) summary
      cl00060
      Location:77 → 145
      FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

    8. NM_001321938.2 → NP_001308867.1  fibroblast growth factor 14 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL161899, AL356263, AL512629, AL591909
      Conserved Domains (1) summary
      pfam00167
      Location:12 → 137
      FGF; Fibroblast growth factor

    9. NM_001321939.2 → NP_001308868.1  fibroblast growth factor 14 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL591909
      Conserved Domains (1) summary
      smart00442
      Location:43 → 167
      FGF; Acidic and basic fibroblast growth factor family

    10. NM_001321940.1 → NP_001308869.1  fibroblast growth factor 14 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL161899, AL356263, AL512629, AL591909
      Conserved Domains (1) summary
      pfam00167
      Location:12 → 137
      FGF; Fibroblast growth factor

    11. NM_001321941.2 → NP_001308870.1  fibroblast growth factor 14 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL356266, AL512629, AL591909
      Conserved Domains (1) summary
      smart00442
      Location:7 → 137
      FGF; Acidic and basic fibroblast growth factor family

    12. NM_001321942.1 → NP_001308871.1  fibroblast growth factor 14 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PX77
      Conserved Domains (1) summary
      pfam00167
      Location:1 → 113
      FGF; Fibroblast growth factor

    13. NM_001321943.1 → NP_001308872.1  fibroblast growth factor 14 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL161899, AL356263, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PX77
      Conserved Domains (1) summary
      pfam00167
      Location:1 → 113
      FGF; Fibroblast growth factor

    14. NM_001321944.1 → NP_001308873.1  fibroblast growth factor 14 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL161899, AL356263, AL512629, AL591909
      Conserved Domains (1) summary
      pfam00167
      Location:9 → 134
      FGF; Fibroblast growth factor

    15. NM_001321945.2 → NP_001308874.1  fibroblast growth factor 14 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PXK7
      Conserved Domains (1) summary
      pfam00167
      Location:38 → 163
      FGF; Fibroblast growth factor

    16. NM_001321946.2 → NP_001308875.1  fibroblast growth factor 14 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PX77
      Related
      ENSP00000516417.1, ENST00000706494.1
      Conserved Domains (1) summary
      pfam00167
      Location:1 → 113
      FGF; Fibroblast growth factor

    17. NM_001321947.2 → NP_001308876.1  fibroblast growth factor 14 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL512629, AL591909
      Conserved Domains (1) summary
      smart00442
      Location:22 → 152
      FGF; Acidic and basic fibroblast growth factor family

    18. NM_001321948.2 → NP_001308877.1  fibroblast growth factor 14 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PXK7
      Related
      ENSP00000516414.1, ENST00000418923.3
      Conserved Domains (1) summary
      pfam00167
      Location:38 → 163
      FGF; Fibroblast growth factor

    19. NM_001321949.1 → NP_001308878.1  fibroblast growth factor 14 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PX77
      Conserved Domains (1) summary
      pfam00167
      Location:1 → 113
      FGF; Fibroblast growth factor

    20. NM_001379342.1 → NP_001366271.1  fibroblast growth factor 14 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL512629, AL591909
      UniProtKB/TrEMBL
      A0A9L9PXK7
      Conserved Domains (1) summary
      pfam00167
      Location:38 → 163
      FGF; Fibroblast growth factor

    21. NM_004115.4 → NP_004106.1  fibroblast growth factor 14 isoform 1A

      See identical proteins and their annotated locations for NP_004106.1

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL512629, AL591909
      Consensus CDS
      CCDS9501.1
      UniProtKB/Swiss-Prot
      Q86YN7, Q92915, Q96QX6
      UniProtKB/TrEMBL
      A0A7U3JVZ8
      Related
      ENSP00000365313.4, ENST00000376143.5
      Conserved Domains (1) summary
      pfam00167
      Location:72 → 197
      FGF; Fibroblast growth factor

    22. NM_175929.3 → NP_787125.1  fibroblast growth factor 14 isoform 1B

      See identical proteins and their annotated locations for NP_787125.1

      Status: REVIEWED

      Source sequence(s)
      AL160153, AL356263, AL512629, AL591909
      Consensus CDS
      CCDS9500.1
      UniProtKB/Swiss-Prot
      Q92915
      Related
      ENSP00000365301.3, ENST00000376131.9
      Conserved Domains (1) summary
      pfam00167
      Location:77 → 202
      FGF; Fibroblast growth factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      101710804..102402443 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      100926801..101618453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92915.1 GenPept UniProtKB/Swiss-Prot:Q92915

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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