FGF16 fibroblast growth factor 16 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF16provided by HGNC
Official Full Name: fibroblast growth factor 16provided by HGNC
Primary source: HGNC:HGNC:3672
See related: Ensembl:ENSG00000196468 MIM:300827; AllianceGenome:HGNC:3672
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: MF4; FGF-16
Summary: This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and is required for proper heart development. Mutation in this gene was also observed in individuals with metacarpal 4-5 fusion. [provided by RefSeq, Mar 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (77447389..77457278)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (75884945..75894834)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (76709643..76712769)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Patient-specific iPSC-derived cardiomyocytes reveal abnormal regulation of FGF16 in a familial atrial septal defect.
Title: Patient-specific iPSC-derived cardiomyocytes reveal abnormal regulation of FGF16 in a familial atrial septal defect.
MiRNA-144-3p inhibits high glucose induced cell proliferation through suppressing FGF16.
Title: MiRNA-144-3p inhibits high glucose induced cell proliferation through suppressing FGF16.
FGF16 is capable of inducing proliferation of iPSC-derived cardiac progenitor cells.
Title: Phenotypic Screen with the Human Secretome Identifies FGF16 as Inducing Proliferation of iPSC-Derived Cardiac Progenitor Cells.
Experiments demonstrated FGF16 could promote proliferation of NCL-H460 cells by activating Akt, Erk1/2, and p38 MAPK signaling, whereas JNK had no significant effect.
Title: High-yield of biologically active recombinant human fibroblast growth factor-16 in E. coli and its mechanism of proliferation in NCL-H460 cells.
Identification of an FGF16 mutation in metacarpal 4-5 fusion.
Title: Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion.
impaired FGF16 function may also be responsible for connective tissue symptoms in MF4 patients.
Title: Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
Fgf-16 gene is a target for NF-kappaB activation in the postnatal heart.
Title: FGF-16 is a target for adrenergic stimulation through NF-kappaB activation in postnatal cardiac cells and adult mouse heart.
HUVEC clearly demonstrated chemotaxis towards FGF16. FGF16 enhanced cell migration in response to mechanical damage & failed to induce endothelial cell proliferation or sprouting in a three-dimensional in vitro angiogenesis assay.
Title: Fibroblast growth factor 16 and 18 are expressed in human cardiovascular tissues and induce on endothelial cells migration but not proliferation.

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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
Syndactyly type 8 MedGen: C1839728 OMIM: 309630 GeneReviews: Not available	Compare labs

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

Fgf16 (e-PCR), detects polymorphism
- UniSTS:507918

D1S3688 (e-PCR)
- UniSTS:474266

Fgf16 (e-PCR), detects polymorphism
- UniSTS:258262

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of endothelial cell chemotaxis to fibroblast growth factor	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of sprouting angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in response to temperature stimulus	TAS Traceable Author Statement more info	PubMed
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
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: fibroblast growth factor 16

Names: metacarpal 4-5 fusion

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.