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

Gene ID: 2259, updated on 12-May-2016
Official Symbol
FGF14provided by HGNC
Official Full Name
fibroblast growth factor 14provided by HGNC
Primary source
HGNC:HGNC:3671
See related
Ensembl:ENSG00000102466 HPRD:03305; MIM:601515
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; FHF-4; SCA27; FGF-14
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]
Orthologs
Location:
13q34
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (101719784..102401774, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (102373205..103054124, 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 sodium leak channel, non-selective Neighboring gene integrin subunit beta like 1 Neighboring gene RNA, U1 small nuclear 24, pseudogene Neighboring gene high mobility group box 3 pseudogene 7 Neighboring gene microRNA 2681 Neighboring gene lipoyltransferase 1 pseudogene 1 Neighboring gene LINE-1 type transposase domain containing 1 pseudogene 1 Neighboring gene RNA, Ro-associated Y1 pseudogene 2 Neighboring gene microRNA 4705 Neighboring gene ribosomal protein L39 pseudogene 29 Neighboring gene FGF14 intronic transcript 1 Neighboring gene FGF14 antisense RNA 1 Neighboring gene FGF14 antisense RNA 2 Neighboring gene uncharacterized LOC105370336 Neighboring gene methyltransferase like 21C Neighboring gene tripeptidyl peptidase 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spinocerebellar ataxia 27
MedGen: C1836383 OMIM: 609307 GeneReviews: Hereditary Ataxia Overview
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
NHGRI GWA Catalog
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.
NHGRI GWA 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.
NHGRI GWA Catalog
Impact of ancestry and common genetic variants on QT interval in African Americans.
NHGRI GWA Catalog
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Melanoma, organism-specific biosystem (from KEGG)
    Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Melanoma, conserved biosystem (from KEGG)
    Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton

Markers

Homology

Clone Names

  • MGC119129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT fibroblast growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
JNK cascade IPI
Inferred from Physical Interaction
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
NOT fibroblast growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of defense response to virus by host IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of high voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic vesicle recycling IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
xenophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
intracellular IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
fibroblast growth factor 14
Names
bA397O8.2
fibroblast growth factor homologous factor 4

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_008317.1 RefSeqGene

    Range
    5001..685920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356266, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:1116
    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 ...
  2. NM_001321932.1NP_001308861.1  fibroblast growth factor 14 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356266, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:11137
    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 ...
  3. NM_001321933.1NP_001308862.1  fibroblast growth factor 14 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356266, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:14140
    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 ...
  4. NM_001321934.1NP_001308863.1  fibroblast growth factor 14 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356266, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:1116
    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 ...
  5. NM_001321935.1NP_001308864.1  fibroblast growth factor 14 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356266, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:1116
    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 ...
  6. NM_001321936.1NP_001308865.1  fibroblast growth factor 14 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356266, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:11137
    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 ...
  7. NM_001321937.1NP_001308866.1  fibroblast growth factor 14 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    pfam00167
    Location:76147
    FGF; Fibroblast growth factor
  8. NM_001321938.1NP_001308867.1  fibroblast growth factor 14 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:14140
    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 ...
  9. NM_001321939.1NP_001308868.1  fibroblast growth factor 14 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:44168
    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 ...
  10. NM_001321940.1NP_001308869.1  fibroblast growth factor 14 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:14140
    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 ...
  11. NM_001321941.1NP_001308870.1  fibroblast growth factor 14 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL356266, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:12138
    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 ...
  12. NM_001321942.1NP_001308871.1  fibroblast growth factor 14 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:1116
    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 ...
  13. NM_001321943.1NP_001308872.1  fibroblast growth factor 14 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:1116
    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 ...
  14. NM_001321944.1NP_001308873.1  fibroblast growth factor 14 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:11137
    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 ...
  15. NM_001321945.1NP_001308874.1  fibroblast growth factor 14 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:40166
    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 ...
  16. NM_001321946.1NP_001308875.1  fibroblast growth factor 14 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:1116
    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 ...
  17. NM_001321947.1NP_001308876.1  fibroblast growth factor 14 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:27153
    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 ...
  18. NM_001321948.1NP_001308877.1  fibroblast growth factor 14 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:40166
    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 ...
  19. NM_001321949.1NP_001308878.1  fibroblast growth factor 14 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cd00058
    Location:1116
    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 ...
  20. NM_004115.3NP_004106.1  fibroblast growth factor 14 isoform 1A

    See identical proteins and their annotated locations for NP_004106.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (1A).
    Source sequence(s)
    AL160153, U66200
    Consensus CDS
    CCDS9501.1
    UniProtKB/Swiss-Prot
    Q92915
    Related
    ENSP00000365313, OTTHUMP00000018661, ENST00000376143, OTTHUMT00000045679
    Conserved Domains (1) summary
    cd00058
    Location:74200
    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 ...
  21. NM_175929.2NP_787125.1  fibroblast growth factor 14 isoform 1B

    See identical proteins and their annotated locations for NP_787125.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' sequence including the 5' UTR and coding region, as compared to variant 1. It encodes isoform 1B, which has a different and longer N-terminus than isoform 1A.
    Source sequence(s)
    AL160153, AY188178
    Consensus CDS
    CCDS9500.1
    UniProtKB/Swiss-Prot
    Q92915
    Related
    ENSP00000365301, OTTHUMP00000018662, ENST00000376131, OTTHUMT00000045680
    Conserved Domains (1) summary
    cd00058
    Location:79205
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

    Range
    101719784..102401774 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521053.1XP_011519355.1  

    Conserved Domains (1) summary
    cd00058
    Location:14140
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    102343273..103023626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)