Format

Send to:

Choose Destination

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

Gene ID: 2259, updated on 1-Jun-2020

Summary

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
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]
Expression
Biased expression in brain (RPKM 5.0), adrenal (RPKM 1.3) and 6 other tissues See more
Orthologs

Genomic context

See FGF14 in Genome Data Viewer
Location:
13q33.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (101710804..102402443, 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 sodium leak channel, non-selective Neighboring gene integrin subunit beta like 1 Neighboring gene uncharacterized LOC107984616 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 RNY1 pseudogene 2 Neighboring gene microRNA 4705 Neighboring gene uncharacterized LOC107984615 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 LOC107984588 Neighboring gene methyltransferase like 21C Neighboring gene tripeptidyl peptidase 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinocerebellar ataxia type 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
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 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
fibroblast growth factor 14
Names
fibroblast growth factor homologous factor 4

NCBI Reference Sequences (RefSeq)

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_008317.2 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
    smart00442
    Location:1115
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:6136
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:9139
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:1115
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:1115
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:6136
    FGF; Acidic and basic fibroblast growth factor family
  7. NM_001321937.1NP_001308866.1  fibroblast growth factor 14 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    cl00060
    Location:77145
    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_001321938.2NP_001308867.1  fibroblast growth factor 14 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL161899, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    smart00442
    Location:9139
    FGF; Acidic and basic fibroblast growth factor family
  9. NM_001321939.1NP_001308868.1  fibroblast growth factor 14 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL591909
    Conserved Domains (1) summary
    smart00442
    Location:43167
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:9139
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:7137
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:1115
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:1115
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:6136
    FGF; Acidic and basic fibroblast growth factor family
  15. NM_001321945.2NP_001308874.1  fibroblast growth factor 14 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    smart00442
    Location:35165
    FGF; Acidic and basic fibroblast growth factor family
  16. NM_001321946.2NP_001308875.1  fibroblast growth factor 14 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    smart00442
    Location:1115
    FGF; Acidic and basic fibroblast growth factor family
  17. NM_001321947.2NP_001308876.1  fibroblast growth factor 14 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    smart00442
    Location:22152
    FGF; Acidic and basic fibroblast growth factor family
  18. NM_001321948.2NP_001308877.1  fibroblast growth factor 14 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
    Conserved Domains (1) summary
    smart00442
    Location:35165
    FGF; Acidic and basic fibroblast growth factor family
  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
    smart00442
    Location:1115
    FGF; Acidic and basic fibroblast growth factor family
  20. NM_001379342.1NP_001366271.1  fibroblast growth factor 14 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL160153, AL356263, AL512629, AL591909
  21. NM_004115.4NP_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
    Q92915
    Related
    ENSP00000365313.4, ENST00000376143.4
    Conserved Domains (1) summary
    smart00442
    Location:69199
    FGF; Acidic and basic fibroblast growth factor family
  22. NM_175929.3NP_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, ENST00000376131.8
    Conserved Domains (1) summary
    smart00442
    Location:74204
    FGF; Acidic and basic fibroblast growth factor family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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