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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 was identified as an oncogene, which confers tra... See more...
Aliases for FGF5 Gene
Aliases for FGF5 Gene
External Ids for FGF5 Gene
- HGNC: 3683
- Entrez Gene: 2250
- Ensembl: ENSG00000138675
- OMIM: 165190
- UniProtKB: P12034
Previous GeneCards Identifiers for FGF5 Gene
- GC04P081074
- GC04P081473
- GC04P081580
- GC04P081646
- GC04P081545
- GC04P081406
- GC04P081187
- GC04P076931
Summaries for FGF5 Gene
-
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 was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for FGF5 Gene
FGF5 (Fibroblast Growth Factor 5) is a Protein Coding gene. Diseases associated with FGF5 include Trichomegaly and Hereditary Spherocytosis. Among its related pathways are RET signaling and Signaling by FGFR2 in disease. 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 FGF3.
UniProtKB/Swiss-Prot Summary for FGF5 Gene
-
Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase (By similarity).
Additional gene information for FGF5 Gene
- HGNC(3683)
- Entrez Gene(2250)
- Ensembl(ENSG00000138675)
- OMIM(165190)
- UniProtKB(P12034)
- Open Targets Platform(ENSG00000138675)
- Monarch Initiative
- Search for FGF5 at DataMed
- Search for FGF5 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGF5 Gene
Genomics for FGF5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FGF5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FGF5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGF5
- Top Transcription factor binding sites by QIAGEN in the FGF5 gene promoter:
-
- AREB6
- CUTL1
- MEF-2
- MyoD
- NF-kappaB
- NF-kappaB1
- Nkx2-5
Genomic Locations for FGF5 Gene
Genomic Locations for FGF5 Gene
- chr4:80,266,588-80,336,680
- (GRCh38/hg38)
- Size:
- 70,093 bases
- Orientation:
- Plus strand
- chr4:81,187,742-81,257,834
- (GRCh37/hg19)
- Size:
- 70,093 bases
- Orientation:
- Plus strand
Genomic View for FGF5 Gene
Genes around FGF5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q21.21 by HGNC
- 4q21.21 by Entrez Gene
- 4q21.21 by Ensembl
FGF5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FGF5 Gene
Proteins for FGF5 Gene
-
Protein details for FGF5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P12034-FGF5_HUMAN
- Recommended name:
- Fibroblast growth factor 5
- Protein Accession:
- P12034
- B2R554
- O75846
- Q3Y8M3
- Q8NF90
Protein attributes for FGF5 Gene
- Size:
- 268 amino acids
- Molecular mass:
- 29551 Da
- Quaternary structure:
-
- Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.
- SequenceCaution:
-
- Sequence=AAB60698.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform Short]: Seems to have an antagonistic effect compared to that of the isoform Long.
Protein Expression for FGF5 Gene
Post-translational modifications for FGF5 Gene
Other Protein References for FGF5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences FGF5 Antibody
- G Biosciences Immunotag™ FGF5 Antibody
- Creative Diagnostics Anti-FGF5 (aa 248-260) polyclonal antibody
- HUABIO Anti-FGF5 Antibody
- Novus Biologicals Antibodies for FGF5
-
Abcam antibodies for FGF5
- Invitrogen Antibodies for FGF5 (AFLGC-FGF5)
-
Santa Cruz Biotechnology (SCBT) Antibodies for FGF5
- Sino Biological Antibodies for FGF5
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for FGF5
- Origene Custom Protein Services for FGF5
- ProSpec Recombinant Proteins for FGF5
-
ProSci Proteins for FGF5
-
Abcam proteins for FGF5
No data available for DME Specific Peptides for FGF5 Gene
Domains & Families for FGF5 Gene
Gene Families for FGF5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted secreted proteins
Protein Domains for FGF5 Gene
- InterPro:
- Blocks:
-
- Heparin binding growth factor family signature
- IL1/HBGF family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for FGF5 Gene
- GenScript: Design optimal peptide antigens:
-
- Smag-82 (FGF5_HUMAN)
- cDNA FLJ77350, highly similar to Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant1, mRNA (Q8NF90_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P12034- Family:
-
- Belongs to the heparin-binding growth factors family.
Function for FGF5 Gene
Molecular function for FGF5 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase (By similarity).
- GENATLAS Biochemistry:
- fibroblast growth factor 5,basic,HST oncogene homolog,expressed by fibroblasts,epithelium and during embryonic development mitogenic for fibroblast
Phenotypes From GWAS Catalog for FGF5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005104 | fibroblast growth factor receptor binding | IEA,IDA | 8386828 |
| GO:0008083 | growth factor activity | IEA | -- |
Phenotypes for FGF5 Gene
- MGI mutant phenotypes for FGF5:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for FGF5:
-
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Increased IL-8 secretion
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased viability in colon lineage
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FGF5 - Select products 50% OFF >
- * FGF5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FGF5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FGF5
-
Santa Cruz Biotechnology (SCBT) CRISPR for FGF5
miRNA for FGF5 Gene
- miRTarBase miRNAs that target FGF5
-
- hsa-miR-124-3p (MIRT022485)
- hsa-miR-15b-5p (MIRT046529)
- hsa-miR-3662 (MIRT310872)
- hsa-miR-7156-3p (MIRT498812)
- hsa-miR-6516-3p (MIRT498813)
- hsa-miR-1206 (MIRT498814)
- hsa-miR-1272 (MIRT498815)
- hsa-miR-8084 (MIRT498816)
- hsa-miR-6802-5p (MIRT537369)
- hsa-miR-6716-5p (MIRT537370)
- hsa-miR-6865-5p (MIRT537371)
- hsa-miR-6815-5p (MIRT537372)
- hsa-miR-4643 (MIRT537373)
- hsa-miR-4511 (MIRT537374)
- hsa-miR-548b-3p (MIRT537375)
- mmu-miR-362-3p (MIRT577071)
- mmu-miR-329-3p (MIRT577072)
- mmu-miR-337-3p (MIRT583521)
- mmu-miR-466i-3p (MIRT583522)
- mmu-miR-712-5p (MIRT591351)
- mmu-miR-205-5p (MIRT591352)
- hsa-miR-3149 (MIRT615273)
- hsa-miR-297 (MIRT615274)
- hsa-miR-675-3p (MIRT615275)
- hsa-miR-372-5p (MIRT615276)
- hsa-miR-371a-5p (MIRT615277)
- hsa-miR-616-5p (MIRT615278)
- hsa-miR-373-5p (MIRT615279)
- hsa-miR-371b-5p (MIRT615280)
- hsa-miR-153-5p (MIRT615281)
- hsa-miR-1250-3p (MIRT615282)
- hsa-miR-3613-3p (MIRT615283)
- hsa-miR-548c-3p (MIRT615284)
- hsa-miR-4435 (MIRT625253)
- hsa-miR-188-5p (MIRT731392)
- hsa-let-7b-3p (MIRT732764)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FGF5
- Browse OriGene Inhibitory RNA Products For FGF5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF5
Clone Products
- Applied Biological Materials (abm): Clones for FGF5 - Select products 50% OFF >
- * FGF5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG203484
- MR203484
- MR203484L3
- MR203484L4
- MR227958
- RC216267
- RC216267L3
- RC216267L4
- RC223402
- RC223402L1
- RC223402L2
- RC223402L3
- RC223402L4
- RC235825
- RG216267
- RG223402
- RR215452
- RR215452L3
- RR215452L4
- MR203484L3V
- MR203484L4V
- RC216267L3V
- RC216267L4V
- RC223402L1V
- RC223402L2V
- RC223402L3V
- RC223402L4V
- RR215452L3V
- RR215452L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FGF5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FGF5
Cell Line Products
-
Horizon Cell Lines for FGF5
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF5 Gene
Localization for FGF5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FGF5 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nucleoli fibrillar center (3)
- Nucleoplasm (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA,TAS | -- |
| GO:0005615 | extracellular space | TAS | 9786939 |
Pathways & Interactions for FGF5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Downstream signaling of activated FGFR2 | ||
| 3 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
| 4 | Negative regulation of FGFR3 signaling | ||
| 5 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
Pathways by source for FGF5 Gene
2 BioSystems pathways for FGF5 Gene
100 Reactome pathways for FGF5 Gene
1 PharmGKB pathway for FGF5 Gene
9 KEGG pathways for FGF5 Gene
59 Qiagen pathways for FGF5 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
Interacting Proteins for FGF5 Gene
GPS-Prot Interaction Network for FGF5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000165 | MAPK cascade | TAS | -- |
| GO:0007267 | cell-cell signaling | TAS | 9786939 |
| GO:0007399 | nervous system development | TAS | 9786939 |
| GO:0008284 | positive regulation of cell proliferation | IGI | 8663044 |
| GO:0008543 | fibroblast growth factor receptor signaling pathway | IEA,TAS | -- |
Drugs & Compounds for FGF5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Heparin | Approved, Investigational | Pharma | Antagonist | 1058 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for FGF5 Gene
mRNA/cDNA for FGF5 Gene
- 3 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000312465 4555 nts (view in UCSC)
- ENST00000380628 390 nts (view in UCSC)
- ENST00000456523 5234 nts (view in UCSC)
- ENST00000503413 3042 nts (view in UCSC)
- ENST00000507780 658 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FGF5 - Select products 50% OFF >
- * FGF5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FGF5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FGF5
-
Santa Cruz Biotechnology (SCBT) CRISPR for FGF5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FGF5
- Browse OriGene Inhibitory RNA Products For FGF5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF5
Clone Products
- Applied Biological Materials (abm): Clones for FGF5 - Select products 50% OFF >
- * FGF5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG203484
- MR203484
- MR203484L3
- MR203484L4
- MR227958
- RC216267
- RC216267L3
- RC216267L4
- RC223402
- RC223402L1
- RC223402L2
- RC223402L3
- RC223402L4
- RC235825
- RG216267
- RG223402
- RR215452
- RR215452L3
- RR215452L4
- MR203484L3V
- MR203484L4V
- RC216267L3V
- RC216267L4V
- RC223402L1V
- RC223402L2V
- RC223402L3V
- RC223402L4V
- RR215452L3V
- RR215452L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FGF5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FGF5
Relevant External Links for FGF5 Gene
- GeneLoc Exon Structure for
- FGF5
Expression for FGF5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epiblast (Early Embryonic Tissues)
- Epiblast Cells Epiblast
- Intraembryonic Epiblast Cells Epiblast
- Early Epiblast Cells Epiblast
- Epiblast Stem Cell line 7
- Epiblast Stem Cell line 5
- Neural Tube (Nervous System)
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
-
Primitive Streak (Early Embryonic Tissues)
- Primitive Streak Cells Primitive Streak
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
-
Liver (Hepatobiliary System)
- Mesothelial Cells Hepatic Mesenchyme
-
Hypoblast (Extraembryonic Tissues)
- Extraembryonic Endoderm Cells Extraembryonic Endoderm
-
Yolk Sac (Extraembryonic Tissues)
- Extraembryonic Endoderm Cells Extraembryonic Endoderm
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Eye (Sensory Organs)
- NULL (Uncategorized)
-
Fibroblasts (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for FGF5 Gene
This gene is overexpressed in Brain - Cerebellum (x6.1) and Brain - Cerebellar Hemisphere (x6.0).
This gene is overexpressed in Platelet (66.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FGF5 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGF5
SOURCE GeneReport for Unigene cluster for FGF5 Gene:
Hs.37055mRNA Expression by UniProt/SwissProt for FGF5 Gene:
P12034-FGF5_HUMAN
Tissue specificity:
Expressed in neonatal brain.
Evidence on tissue expression from TISSUES for FGF5 Gene
- Nervous system(4.5)
- Lung(4.3)
- Skin(2.5)
- Muscle(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF5 Gene
Germ Layers:
- ectoderm
Systems:
- integumentary
- nervous
Regions:
Head and neck:
- eye
- eyelid
- face
- head
General:
- hair
- skin
Primer Products
-
OriGene qPCR primer pairs for FGF5
-
OriGene qPCR primer pairs and template standards for FGF5
Gene Expression Assay Products
Orthologs for FGF5 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FGF5 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FGF5 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FGF5 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FGF5 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fgf5 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Fgf5 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FGF5 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FGF5 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FGF5 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fgf5 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fgf5 30 31 |
|
OneToOne |
- Species where no ortholog for FGF5 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)
- 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 Squirt (Ciona savignyi)
- 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 FGF5 Gene
- ENSEMBL:
- Gene Tree for FGF5 (if available)
- TreeFam:
- Gene Tree for FGF5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FGF5: view image
Paralogs for FGF5 Gene
Paralogs for FGF5 Gene
(15) SIMAP similar genes for FGF5 Gene using alignment to 2 proteins:
- FGF5_HUMAN
- H0Y9E2_HUMAN
Variants for FGF5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGF5 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 786515 | Likely Benign: not provided | 80,267,067(+) | G/T | MISSENSE_VARIANT | |
| rs587777579 | Pathogenic: Trichomegaly | 80,275,012(+) | TG/T | SPLICE_DONOR_VARIANT,INTRON_VARIANT | |
| rs587777580 | Pathogenic: Trichomegaly | 80,266,982(+) | CTA/C | FRAMESHIFT_VARIANT | |
| rs587777581 | Pathogenic: Trichomegaly. Trichomegaly (TCMGLY) [MIM:190330] | 80,286,385(+) | T/Cp.Tyr174His | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
| rs33950145 | - | p.Met54Val |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3893966 | CNV | loss | 25118596 |
Residual Variation Intolerance Score:
65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.50;
55.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FGF5 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF5 Gene
Disorders for FGF5 Gene
(9) MalaCards diseases for FGF5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| trichomegaly |
|
|
| hereditary spherocytosis |
|
|
| hypertrichosis |
|
|
| orofacial cleft |
|
|
| telogen effluvium |
|
|
Search FGF5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FGF5_HUMAN- Trichomegaly (TCMGLY) [MIM:190330]: A morphologic trait characterized by unusually long eyelashes and mild hypertrichosis of eyebrows. It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis. {ECO:0000269 PubMed:24989505}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FGF5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FGF5 Gene
Publications for FGF5 Gene
- Identification of fibroblast growth factor-5 as an overexpressed antigen in multiple human adenocarcinomas. (PMID: 11454700) Hanada K … Yang JC (Cancer research 2001) 3 4 23
- Differential display identification of 40 genes with altered expression in activated human smooth muscle cells. Local expression in atherosclerotic lesions of smags, smooth muscle activation-specific genes. (PMID: 10823842) de Vries CJ … Pannekoek H (The Journal of biological chemistry 2000) 3 4 23
- Expression of the murine fibroblast growth factor 5 gene in the adult central nervous system. (PMID: 1700424) Haub O … Goldfarb M (Proceedings of the National Academy of Sciences of the United States of America 1990) 3 4 23
- The human FGF-5 oncogene encodes a novel protein related to fibroblast growth factors. (PMID: 3211147) Zhan X … Goldfarb M (Molecular and cellular biology 1988) 2 3 4
- FGF5 is a crucial regulator of hair length in humans. (PMID: 24989505) Higgins CA … Christiano AM (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4
ExternalLinks
Products for FGF5 Gene
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Sources for FGF5 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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- (7) GeneLoc
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
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