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. [... See more...

Aliases for FGF16 Gene

Aliases for FGF16 Gene

  • Fibroblast Growth Factor 16 2 3 4 5
  • Metacarpal 4-5 Fusion 2 3
  • FGF-16 3 4
  • FGF16 5
  • MF4 3

External Ids for FGF16 Gene

Previous HGNC Symbols for FGF16 Gene

  • MF4

Previous GeneCards Identifiers for FGF16 Gene

  • GC00U990451
  • GC13P020043
  • GC0XP076516
  • GC0XP076709
  • GC0XP070299

Summaries for FGF16 Gene

Entrez Gene Summary for FGF16 Gene

  • 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]

GeneCards Summary for FGF16 Gene

FGF16 (Fibroblast Growth Factor 16) is a Protein Coding gene. Diseases associated with FGF16 include Metacarpal 4-5 Fusion and Zygodactyly 1. Among its related pathways are RET signaling and Downstream signaling of activated FGFR2. Gene Ontology (GO) annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF9.

UniProtKB/Swiss-Prot Summary for FGF16 Gene

  • Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGF16 Gene

Genomics for FGF16 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FGF16 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ077446 Promoter/Enhancer 0.7 Ensembl ENCODE 250.7 +1.6 1591 6 NFIC NFIB FGF16 HSALNG0138704 ATRX
GH0XJ078102 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.4 +659.0 658979 7.3 SP1 IKZF1 ZNF600 ZNF580 ZNF592 POLR2A CEBPA ZIC2 ZBTB10 YY1 PGK1 TAF9B ATRX CYSLTR1 FGF16 lnc-TAF9B-2 HSALNG0138730 PGAM4
GH0XJ077527 Enhancer 0.8 Ensembl ENCODE 12 +80.7 80699 1.8 NCOR1 MYC ZNF592 MNT TAL1 PRDM10 EP400 TCF12 TEAD4 L3MBTL2 FGF16 MAGT1 MN309174-702 piR-58929-124 ATRX
GH0XJ077505 Enhancer 0.7 UCNEbase Ensembl 12.2 +58.2 58212 1.2 CEBPA ELF3 CEBPB FGF16 piR-58929-124 MN309174-702 ATRX
GH0XJ077503 Enhancer 0.5 Ensembl 12.7 +56.2 56212 1.6 FOXA2 PRDM6 HNF4A SP7 AEBP2 HMBOX1 SP1 FGF16 piR-58929-124 MN309174-702 ATRX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGF16 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGF16

Top Transcription factor binding sites by QIAGEN in the FGF16 gene promoter:
  • ATF6
  • E47
  • FOXO3
  • FOXO3a
  • FOXO3b
  • GATA-3
  • Gfi-1
  • Tal-1
  • TBP
  • TGIF

Genomic Locations for FGF16 Gene

Latest Assembly
chrX:77,447,389-77,457,278
(GRCh38/hg38)
Size:
9,890 bases
Orientation:
Plus strand

Previous Assembly
chrX:76,709,644-76,712,769
(GRCh37/hg19 by Entrez Gene)
Size:
3,126 bases
Orientation:
Plus strand

chrX:76,709,648-76,712,769
(GRCh37/hg19 by Ensembl)
Size:
3,122 bases
Orientation:
Plus strand

Genomic View for FGF16 Gene

Genes around FGF16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF16 Gene

Proteins for FGF16 Gene

  • Protein details for FGF16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43320-FGF16_HUMAN
    Recommended name:
    Fibroblast growth factor 16
    Protein Accession:
    O43320

    Protein attributes for FGF16 Gene

    Size:
    207 amino acids
    Molecular mass:
    23759 Da
    Quaternary structure:
    • Interacts with FGFR1 and FGFR2.

neXtProt entry for FGF16 Gene

Post-translational modifications for FGF16 Gene

  • Glycosylation at Asn78
  • Modification sites at PhosphoSitePlus

Other Protein References for FGF16 Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein products for research

  • Abcam proteins for FGF16

No data available for DME Specific Peptides for FGF16 Gene

Domains & Families for FGF16 Gene

Gene Families for FGF16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for FGF16 Gene

InterPro:
Blocks:
  • Heparin binding growth factor family signature
  • IL1/HBGF family signature

Suggested Antigen Peptide Sequences for FGF16 Gene

GenScript: Design optimal peptide antigens:
  • Fibroblast growth factor 16 (FGF16_HUMAN)
  • Fibroblast growth factor 16 (Q5HY72_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43320

UniProtKB/Swiss-Prot:

FGF16_HUMAN :
  • Belongs to the heparin-binding growth factors family.
Family:
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF16: view

Function for FGF16 Gene

Molecular function for FGF16 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development.

Phenotypes From GWAS Catalog for FGF16 Gene

Gene Ontology (GO) - Molecular Function for FGF16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005104 fibroblast growth factor receptor binding IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0008083 growth factor activity TAS,IBA 21873635
genes like me logo Genes that share ontologies with FGF16: view
genes like me logo Genes that share phenotypes with FGF16: view

Human Phenotype Ontology for FGF16 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGF16 Gene

MGI Knock Outs for FGF16:

Animal Models for research

  • Taconic Biosciences Mouse Models for FGF16

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF16

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF16 Gene

Localization for FGF16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF16 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGF16 gene
Compartment Confidence
extracellular 5
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FGF16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS,IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with FGF16: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FGF16 Gene

Pathways & Interactions for FGF16 Gene

PathCards logo

SuperPathways for FGF16 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
4 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
5 PI3K/AKT activation
genes like me logo Genes that share pathways with FGF16: view

Pathways by source for FGF16 Gene

1 GeneGo (Thomson Reuters) pathway for FGF16 Gene
  • Development FGF-family signaling
59 Qiagen pathways for FGF16 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

Gene Ontology (GO) - Biological Process for FGF16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001934 positive regulation of protein phosphorylation IBA 21873635
GO:0001936 NOT regulation of endothelial cell proliferation IDA 16756958
GO:0007165 signal transduction TAS 9473496
GO:0007267 cell-cell signaling TAS 9473496
genes like me logo Genes that share ontologies with FGF16: view

No data available for SIGNOR curated interactions for FGF16 Gene

Drugs & Compounds for FGF16 Gene

No Compound Related Data Available

Transcripts for FGF16 Gene

mRNA/cDNA for FGF16 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF16

Alternative Splicing Database (ASD) splice patterns (SP) for FGF16 Gene

No ASD Table

Relevant External Links for FGF16 Gene

GeneLoc Exon Structure for
FGF16

Expression for FGF16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGF16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF16 Gene

This gene is overexpressed in Adipose - Subcutaneous (x5.7) and Breast - Mammary Tissue (x4.1).

Protein differential expression in normal tissues from HIPED for FGF16 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FGF16 Gene



Protein tissue co-expression partners for FGF16 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGF16

SOURCE GeneReport for Unigene cluster for FGF16 Gene:

Hs.666364

Evidence on tissue expression from TISSUES for FGF16 Gene

  • Heart(4.3)
  • Kidney(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF16 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Regions:
Limb:
  • digit
  • finger
  • hand
  • upper limb
genes like me logo Genes that share expression patterns with FGF16: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for FGF16 Gene

Orthologs for FGF16 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF16 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FGF16 29 30
  • 99.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fgf16 29 16 30
  • 95.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FGF16 29 30
  • 94.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fgf16 29
  • 94.04 (n)
Dog
(Canis familiaris)
Mammalia FGF16 29 30
  • 94.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FGF16 30
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FGF16 29 30
  • 82.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FGF16 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fgf16 29
  • 76.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii fgf16 29 30
  • 72.91 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CS-FGF9/16/20 30
  • 15 (a)
OneToMany
Species where no ortholog for FGF16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FGF16 Gene

ENSEMBL:
Gene Tree for FGF16 (if available)
TreeFam:
Gene Tree for FGF16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FGF16: view image
Alliance of Genome Resources:
Additional Orthologs for FGF16

Paralogs for FGF16 Gene

(19) SIMAP similar genes for FGF16 Gene using alignment to 2 proteins:

  • FGF16_HUMAN
  • H0Y5L6_HUMAN
genes like me logo Genes that share paralogs with FGF16: view

Variants for FGF16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGF16 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs587777050 Pathogenic: Metacarpal 4-5 fusion 77,456,433(+) C/T
NM_003868.3(FGF16):c.535C>T (p.Arg179Ter)
NONSENSE
rs587777051 Pathogenic: Metacarpal 4-5 fusion 77,456,368(+) C/A
NM_003868.3(FGF16):c.470C>A (p.Ser157Ter)
NONSENSE
rs606231304 Likely Pathogenic: Metacarpal 4-5 fusion; not provided 77,454,154(+) T/TAGGAATCCTGGAG
NM_003868.2(FGF16):c.275_293dup (p.Ser98Argfs)
VAR_072396 Metacarpal 4-5 fusion (MF4) [MIM:309630] p.Arg68Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FGF16 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Additional Variant Information for FGF16 Gene

Human Gene Mutation Database (HGMD)
FGF16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF16
Leiden Open Variation Database (LOVD)
FGF16

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for FGF16 Gene

Disorders for FGF16 Gene

MalaCards: The human disease database

(10) MalaCards diseases for FGF16 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FGF16 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF16_HUMAN
  • Metacarpal 4-5 fusion (MF4) [MIM:309630]: A rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a syndrome. {ECO:0000269 PubMed:23709756, ECO:0000269 PubMed:25333065}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FGF16

genes like me logo Genes that share disorders with FGF16: view

No data available for Genatlas for FGF16 Gene

Publications for FGF16 Gene

  1. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. (PMID: 23709756) Jamsheer A … Mundlos S (Journal of medical genetics 2013) 2 3 4 72
  2. Structure and expression of a novel member, FGF-16, on the fibroblast growth factor family. (PMID: 9473496) Miyake A … Itoh N (Biochemical and biophysical research communications 1998) 2 3 4
  3. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. (PMID: 16597617) Zhang X … Ornitz DM (The Journal of biological chemistry 2006) 3 4
  4. Fibroblast growth factor 16 and 18 are expressed in human cardiovascular tissues and induce on endothelial cells migration but not proliferation. (PMID: 16756958) Antoine M … Kiefer P (Biochemical and biophysical research communications 2006) 3 22
  5. Secretion of FGF-16 requires an uncleaved bipartite signal sequence. (PMID: 12851399) Miyakawa K … Imamura T (The Journal of biological chemistry 2003) 3 22

Products for FGF16 Gene

Sources for FGF16 Gene