FGF13 fibroblast growth factor 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF13provided by HGNC
Official Full Name: fibroblast growth factor 13provided by HGNC
Primary source: HGNC:HGNC:3670
See related: Ensembl:ENSG00000129682 MIM:300070; AllianceGenome:HGNC:3670
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: FGF2; FHF2; DEE90; FHF-2; FGF-13; LINC00889
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. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]
Expression: Broad expression in brain (RPKM 11.3), fat (RPKM 6.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.3-q27.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (138614727..139205023, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (136925164..137515390, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (137696888..138287185, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.
Title: Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.
Increased expression of fibroblast growth factor 13 in cortical lesions of the focal cortical dysplasia.
Title: Increased expression of fibroblast growth factor 13 in cortical lesions of the focal cortical dysplasia.
FGF13 enhances resistance to platinum drugs by regulating hCTR1 and ATP7A via a microtubule-stabilizing effect.
Title: FGF13 enhances resistance to platinum drugs by regulating hCTR1 and ATP7A via a microtubule-stabilizing effect.
FGF13 interaction with SHCBP1 activates AKT-GSK3alpha/beta signaling and promotes the proliferation of A549 cells.
Title: FGF13 interaction with SHCBP1 activates AKT-GSK3α/β signaling and promotes the proliferation of A549 cells.
5'-UTR SNP of FGF13 causes translational defect and intellectual disability.
Title: 5'-UTR SNP of <i>FGF13</i> causes translational defect and intellectual disability.
Expression and cellular distribution of FGF13 in cortical tubers of the tuberous sclerosis complex.
Title: Expression and cellular distribution of FGF13 in cortical tubers of the tuberous sclerosis complex.
FGF10 and FGF13 genetic variation and tooth-size discrepancies.
Title: FGF10 and FGF13 genetic variation and tooth-size discrepancies.
lncRNA LINC00963 downregulation regulates colorectal cancer tumorigenesis and progression via the miR10b/FGF13 axis.
Title: lncRNA LINC00963 downregulation regulates colorectal cancer tumorigenesis and progression via the miR‑10b/FGF13 axis.
FGF13 promotes metastasis of triple-negative breast cancer.
Title: FGF13 promotes metastasis of triple-negative breast cancer.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Title: Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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
Developmental and epileptic encephalopathy, 90 MedGen: C5542345 OMIM: 301058 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67207 (e-PCR)
- UniSTS:186378

DXS7444E (e-PCR)
- UniSTS:61453

DXS7530 (e-PCR)
- UniSTS:15

L77817 (e-PCR)
- UniSTS:33819

DXS8213 (e-PCR)
- UniSTS:99365

G42851 (e-PCR)
- UniSTS:94760

AL031234 (e-PCR)
- UniSTS:6700

G42887 (e-PCR)
- UniSTS:94796

G42890 (e-PCR)
- UniSTS:94799

DXS8363 (e-PCR)
- UniSTS:601

sWXD1492 (e-PCR)
- UniSTS:99678

WI-19784 (e-PCR)
- UniSTS:71267

AL032577 (e-PCR)
- UniSTS:93290

G54805 (e-PCR)
- UniSTS:117888

G54813 (e-PCR)
- UniSTS:117896

DXS730 (e-PCR)
- UniSTS:99213

GDB:313863 (e-PCR)
- UniSTS:46236

STS-Z40861 (e-PCR)
- UniSTS:36255

WI-11452 (e-PCR)
- UniSTS:23201

sWXD1493 (e-PCR)
- UniSTS:98980

G66662 (e-PCR)
- UniSTS:166832

AL021594 (e-PCR)
- UniSTS:37047

G66751 (e-PCR)
- UniSTS:166857

AL031248 (e-PCR)
- UniSTS:30155

G66658 (e-PCR)
- UniSTS:166888

FGF13_30.2 (e-PCR)
- UniSTS:277236

DXS7768 (e-PCR)
- UniSTS:60150

Homology

Homologs of the FGF13 gene: The FGF13 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 411 organisms have orthologs with human gene FGF13
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-tubulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activator activity	IGI Inferred from Genetic Interaction more info	PubMed
enables sodium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables sodium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of protein kinase activity	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in cerebral cortex cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of neuroblast polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippocampus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in inhibitory synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in learning	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of collateral sprouting	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of microtubule depolymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of voltage-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in sodium ion transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytoplasm	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in intercalated disc	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in lateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fibroblast growth factor 13

Names: fibroblast growth factor homologous factor 2

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.