FGF5

Summary

FGF5 (fibroblast growth factor 5, HGNC:3683) is a protein-coding gene on chromosome 4q21.21, encoding Fibroblast growth factor 5 (P12034). Plays an important role in the regulation of cell proliferation and cell differentiation.

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.

Source: NCBI Gene 2250 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrichosis (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 133
• Clinical variants (ClinVar): 64 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 3
• MANE Select transcript: NM_004464

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3683
Approved symbol	FGF5
Name	fibroblast growth factor 5
Location	4q21.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000138675
Ensembl biotype	protein_coding
OMIM	165190
Entrez	2250

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000312465, ENST00000380628, ENST00000456523, ENST00000503413, ENST00000507780

RefSeq mRNA: 3 — MANE Select: NM_004464 NM_001291812, NM_004464, NM_033143

CCDS: CCDS34021, CCDS3586

Canonical transcript exons

ENST00000312465 — 3 exons

Exon	Start	End
ENSE00001485681	80266664	80267179
ENSE00001825286	80286325	80291017
ENSE00003674120	80274909	80275012

Expression profiles

Bgee: expression breadth ubiquitous, 102 present calls, max score 85.62.

FANTOM5 (CAGE): breadth broad, TPM avg 20.5687 / max 1277.4865, expressed in 753 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48530	20.4005	743
48531	0.1682	90

Top tissues by expression

268 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	85.62	gold quality
stromal cell of endometrium	CL:0002255	84.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.99	silver quality
cerebellar cortex	UBERON:0002129	71.46	gold quality
cerebellar hemisphere	UBERON:0002245	71.37	gold quality
cerebellum	UBERON:0002037	70.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	70.70	gold quality
pancreatic ductal cell	CL:0002079	68.22	silver quality
parotid gland	UBERON:0001831	68.13	gold quality
gall bladder	UBERON:0002110	67.04	gold quality
mucosa of stomach	UBERON:0001199	66.52	gold quality
cerebellar vermis	UBERON:0004720	65.74	gold quality
tendon of biceps brachii	UBERON:0008188	65.31	gold quality
lower esophagus muscularis layer	UBERON:0035833	62.89	gold quality
lower esophagus	UBERON:0013473	62.80	gold quality
sperm	CL:0000019	60.99	gold quality
pons	UBERON:0000988	60.39	gold quality
male germ cell	CL:0000015	60.29	gold quality
myocardium	UBERON:0002349	59.45	gold quality
heart right ventricle	UBERON:0002080	59.44	gold quality
upper leg skin	UBERON:0004262	59.24	silver quality
tibialis anterior	UBERON:0001385	59.10	silver quality
esophagogastric junction muscularis propria	UBERON:0035841	59.00	gold quality
cartilage tissue	UBERON:0002418	58.64	silver quality
seminal vesicle	UBERON:0000998	58.15	gold quality
medial globus pallidus	UBERON:0002477	57.54	silver quality
cranial nerve II	UBERON:0000941	56.61	silver quality
vermiform appendix	UBERON:0001154	56.38	gold quality
paraflocculus	UBERON:0005351	56.27	gold quality
prefrontal cortex	UBERON:0000451	56.06	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-124858	yes	365.79
E-ANND-3	yes	4.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FMR1, GATA6, GLI1

miRNA regulators (miRDB)

140 targeting FGF5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504

Literature-anchored findings (GeneRIF, showing 28)

• possible role of fibroblast growth factors in expression of genes of the plasminogen activator system in breast fibroblasts (PMID:12008951)
• FGF5 contributes to the malignant progression of human astrocytic brain tumours by both autocrine and paracrine effects. (PMID:18362893)
• The role of the proteasome is confirmed when a spliced FGF-5 peptide is produced in vitro after incubation of proteasomes with a 49-amino-acid precursor peptide in a transpeptidation splicing model. (PMID:20154207)
• variation in FGF5 and ZNF652 gene upstream regions with altered susceptibility to hypertension in Han Chinese (PMID:20542020)
• Variants in or near FGF5, CYP17A1 and MTHFR contributed to variation in BP and hypertension risk. Effect sizes of these three loci tended to be larger in Chinese than in white Europeans (PMID:20852445)
• Meta-analysis indicated significant associations of both CYP17A1 rs11191548 and FGF5 rs16998073 polymorphisms with hypertension susceptibility in East Asians. (PMID:22959498)
• In Chinese children, no association of CSK rs1378942, MTHFR rs1801133, CYP17A1 rs1004467, STK39 rs3754777 and FGF5 rs16998073 with BP/risk of hypertension. (PMID:23759979)
• FGF5 is a crucial regulator of hair growth in humans. (PMID:24989505)
• High BMI increases the effect of the blood pressure-increasing allele at rs1458038 near FGF5 in a Chinese population. (PMID:25618516)
• These findings collectively demonstrate a tumor suppressor role of miR-188-5p in HCC progression via targeting FGF5 (PMID:25998163)
• FGF5 facilitates cell proliferation through ERK1/2 activation, and it influences the osteogenic differentiation of tonsil-derived mesenchymal stem cells. (PMID:27224250)
• The results suggest that FGF2/rs1048201, FGF5/rs3733336 and FGF9/rs546782 are associated with the risk of non-syndromic orofacial cleft and that these miRNA-FGF interactions may affect non-syndromic orofacial cleft development. (PMID:27511275)
• These results provide new insight into the functions of miR-9-3p and HBGF-5 in HCC and identify miR-9-3p as a potential therapeutic target for HCC (PMID:28750499)
• FGF5 is an independent protective factor for breast cancer patients. (PMID:29804124)
• Study indicated that MTHFR rs1801133, FGF5 rs16998073 and CSK rs1378942 were associated with increased the risk of obesity in the Chinese children. (PMID:30217759)
• FGF5, a growth factor that downregulated in SCOS Sertoli cells, could promote SSCs proliferation via ERK and AKT activation. (PMID:30670081)
• dual-luciferase reporter assay confirmed FGF5 as a target gene of miR-145-5p. FGF5 knockdown could partially reverse the protective effects of miR-145-5p on RGC-5 cells (PMID:31272285)
• FGF5 methylation is a sensitivity marker of esophageal squamous cell carcinoma to definitive chemoradiotherapy. (PMID:31527639)
• High Expression of FGF5 Is an Independent Prognostic Factor for Poor Overall Survival and Relapse-Free Survival in Lung Adenocarcinoma. (PMID:31553229)
• Identifying Interactions between Dietary Sodium, Potassium, Sodium-Potassium Ratios, and FGF5 rs16998073 Variants and Their Associated Risk for Hypertension in Korean Adults. (PMID:32709000)
• Hsa_circ_0016760 exacerbates the malignant development of nonsmall cell lung cancer by sponging miR1455p/FGF5. (PMID:33416186)
• The rs1458038 variant near FGF5 is associated with poor response to calcium channel blockers among Filipinos. (PMID:35119014)
• Genetic susceptibility analysis of FGF5 polymorphism to preeclampsia in Chinese Han population. (PMID:35380267)
• miR4913p functions as a tumor suppressor in nonsmall cell lung cancer by targeting fibroblast growth factor 5. (PMID:35866594)
• FGF5 protects heart from sepsis injury by attenuating cardiomyocyte pyroptosis through inhibiting CaMKII/NFkappaB signaling. (PMID:36368152)
• Circ_0001715 Functions as a miR-1249-3p Sponge to Accelerate the Progression of Non-small Cell Lung Cancer via Upregulating the Level of FGF5. (PMID:36808266)
• Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase. (PMID:37508483)
• Fibroblast growth factor 5 as a target for atrial fibrillation treatment: Evidence from mendelian randomization. (PMID:39059473)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fgf5	ENSDARG00000035377
mus_musculus	Fgf5	ENSMUSG00000029337
rattus_norvegicus	Fgf5	ENSRNOG00000022631

Paralogs (21): FGF10 (ENSG00000070193), FGF22 (ENSG00000070388), FGF4 (ENSG00000075388), FGF20 (ENSG00000078579), FGF14 (ENSG00000102466), FGF9 (ENSG00000102678), FGF21 (ENSG00000105550), FGF8 (ENSG00000107831), FGF6 (ENSG00000111241), FGF1 (ENSG00000113578), FGF12 (ENSG00000114279), FGF23 (ENSG00000118972), FGF13 (ENSG00000129682), FGF2 (ENSG00000138685), FGF7 (ENSG00000140285), FGF18 (ENSG00000156427), FGF17 (ENSG00000158815), FGF11 (ENSG00000161958), FGF19 (ENSG00000162344), FGF3 (ENSG00000186895), FGF16 (ENSG00000196468)

Protein

Protein identifiers

Fibroblast growth factor 5 — P12034 (reviewed: P12034)

Alternative names: Heparin-binding growth factor 5, Smag-82

All UniProt accessions (3): P12034, A0A7U3L5M4, H0Y9E2

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.

Subcellular location. Secreted.

Tissue specificity. Expressed in neonatal brain.

Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Seems to have an antagonistic effect compared to that of the isoform Long.

Similarity. Belongs to the heparin-binding growth factors family.

Isoforms (2)

UniProt ID	Names	Canonical?
P12034-1	Long	yes
P12034-2	Short, FGF-5S

RefSeq proteins (2): NP_004455, NP_149134 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002209	Fibroblast_GF_fam	Family
IPR008996	IL1/FGF	Homologous_superfamily

Pfam: PF00167

UniProt features (15 total): sequence conflict 5, region of interest 2, splice variant 2, sequence variant 2, signal peptide 1, chain 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12034-F1	76.62	0.50

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 110

Function

Pathways and Gene Ontology

Reactome pathways

31 pathways

ID	Pathway
R-HSA-109704	PI3K Cascade
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-1839122	Signaling by activated point mutants of FGFR1
R-HSA-1839130	Signaling by activated point mutants of FGFR3
R-HSA-190372	FGFR3c ligand binding and activation
R-HSA-190373	FGFR1c ligand binding and activation
R-HSA-190375	FGFR2c ligand binding and activation
R-HSA-2033519	Activated point mutants of FGFR2
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5654219	Phospholipase C-mediated cascade: FGFR1
R-HSA-5654221	Phospholipase C-mediated cascade; FGFR2
R-HSA-5654227	Phospholipase C-mediated cascade; FGFR3
R-HSA-5654687	Downstream signaling of activated FGFR1
R-HSA-5654688	SHC-mediated cascade:FGFR1
R-HSA-5654689	PI-3K cascade:FGFR1
R-HSA-5654693	FRS-mediated FGFR1 signaling
R-HSA-5654695	PI-3K cascade:FGFR2
R-HSA-5654699	SHC-mediated cascade:FGFR2
R-HSA-5654700	FRS-mediated FGFR2 signaling
R-HSA-5654704	SHC-mediated cascade:FGFR3
R-HSA-5654706	FRS-mediated FGFR3 signaling
R-HSA-5654710	PI-3K cascade:FGFR3
R-HSA-5654726	Negative regulation of FGFR1 signaling
R-HSA-5654727	Negative regulation of FGFR2 signaling
R-HSA-5654732	Negative regulation of FGFR3 signaling
R-HSA-5655253	Signaling by FGFR2 in disease
R-HSA-5655302	Signaling by FGFR1 in disease
R-HSA-5655332	Signaling by FGFR3 in disease
R-HSA-5658623	FGFRL1 modulation of FGFR1 signaling
R-HSA-5673001	RAF/MAP kinase cascade

MSigDB gene sets: 225 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, BENPORATH_ES_WITH_H3K27ME3, KEGG_MAPK_SIGNALING_PATHWAY, REACTOME_FGFR2C_LIGAND_BINDING_AND_ACTIVATION, REACTOME_SIGNALING_BY_FGFR, REACTOME_FGFR1_LIGAND_BINDING_AND_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, AREB6_01, GOBP_NEUROGENESIS, GOMF_GROWTH_FACTOR_ACTIVITY, SP1_Q2_01, GOBP_CELL_CELL_SIGNALING, KOYAMA_SEMA3B_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION

GO Biological Process (11): cell-cell signaling (GO:0007267), nervous system development (GO:0007399), positive regulation of cell population proliferation (GO:0008284), fibroblast growth factor receptor signaling pathway (GO:0008543), glial cell differentiation (GO:0010001), neurogenesis (GO:0022008), signal transduction involved in regulation of gene expression (GO:0023019), regulation of cell migration (GO:0030334), positive regulation of MAPK cascade (GO:0043410), positive regulation of cell division (GO:0051781), signal transduction (GO:0007165)

GO Molecular Function (2): fibroblast growth factor receptor binding (GO:0005104), growth factor activity (GO:0008083)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
Downstream signaling of activated FGFR1	4
Downstream signaling of activated FGFR2	4
Downstream signaling of activated FGFR3	2
IRS-mediated signalling	1
Intracellular signaling by second messengers	1
FGFR1 mutant receptor activation	1
FGFR3 mutant receptor activation	1
FGFR3 ligand binding and activation	1
FGFR1 ligand binding and activation	1
FGFR2 ligand binding and activation	1
FGFR2 mutant receptor activation	1
PI3K/AKT Signaling in Cancer	1
Signaling by FGFR1	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	2
signaling	2
positive regulation of cellular process	2
cell differentiation	2
cellular anatomical structure	2
system development	1
cell population proliferation	1
regulation of cell population proliferation	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
gliogenesis	1
nervous system development	1
signal transduction	1
regulation of gene expression	1
cell migration	1
regulation of cell motility	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
cell division	1
regulation of cell division	1
cellular process	1
regulation of cellular process	1
cellular response to stimulus	1
growth factor receptor binding	1
receptor ligand activity	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

3779 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FGF5	FGFR1	P11362	997
FGF5	EGF	P01133	989
FGF5	FGFR4	P22455	986
FGF5	KL	Q9UEF7	986
FGF5	FGFR2	P18443	978
FGF5	HSPG2	P98160	946
FGF5	FGFBP1	Q14512	945
FGF5	DCN	P07585	905
FGF5	KRT71	Q3SY84	882
FGF5	CDH2	P19022	879
FGF5	FGFR3	P22607	878
FGF5	HGF	P14210	875
FGF5	CD44	P16070	875
FGF5	KLB	Q86Z14	844
FGF5	NRP1	O14786	822

IntAct

5 interactions, top by confidence:

A	B	Type	Score
FGFR4	FGF5	psi-mi:“MI:2364”(proximity)	0.270
MAPK1	FGF5	psi-mi:“MI:2364”(proximity)	0.270
EGF	FGF5	psi-mi:“MI:2364”(proximity)	0.270
FGF5	FGFR2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (7): EGF (Co-localization), MAPK1 (Co-localization), FGFR4 (Co-localization), FGF5 (Co-localization), FGF5 (Protein-peptide), FGF5 (Protein-peptide), PTX3 (Reconstituted Complex)

ESM2 similar proteins: A0MTF4, A4Q9F4, M3X9S6, O15520, O35565, O43189, O43320, O54693, O54769, O73754, O95750, P05524, P08620, P11487, P12034, P15656, P31371, P36364, P36386, P48801, P48802, P48803, P48804, P48807, P54130, P70492, P97401, P98172, Q20FD0, Q2HXK8, Q3ZFI5, Q5RF67, Q5T6S3, Q5XI70, Q91875, Q92765, Q92838, Q95117, Q95L12, Q96GD3

Diamond homologs: A0MTF4, A6P7H6, M3X9S6, O15520, O35565, O43320, O54769, P03968, P03969, P05230, P05524, P08620, P09038, P10767, P11403, P11487, P12034, P12226, P13109, P15655, P15656, P19596, P20002, P20003, P21658, P21781, P31371, P34004, P36363, P36364, P36386, P48798, P48799, P48800, P48801, P48802, P48803, P48804, P48805, P48806

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
FGF5	up-regulates	FGFR1	binding
FGF5	up-regulates	FGFR2	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

64 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	53
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
141410	NM_004464.4(FGF5):c.459+1del	Pathogenic
141411	NM_004464.4(FGF5):c.160_161del (p.Met54fs)	Pathogenic
141413	NM_004464.4(FGF5):c.520T>C (p.Tyr174His)	Pathogenic
4849422	NM_004464.4(FGF5):c.87_88del (p.Gly30fs)	Likely pathogenic

SpliceAI

647 predictions. Top by Δscore:

Variant	Effect	Δscore
4:80267175:GTTAA:G	donor_gain	1.0000
4:80267176:T:G	donor_gain	1.0000
4:80267180:G:GG	donor_gain	1.0000
4:80275011:GT:G	donor_gain	1.0000
4:80275013:G:GG	donor_gain	1.0000
4:80267176:TTAA:T	donor_gain	0.9900
4:80267176:TTAAG:T	donor_loss	0.9900
4:80267177:TAAGT:T	donor_loss	0.9900
4:80267178:AAGTA:A	donor_loss	0.9900
4:80267179:AGT:A	donor_loss	0.9900
4:80267180:GTA:G	donor_loss	0.9900
4:80267181:T:A	donor_loss	0.9900
4:80274903:TCCTA:T	acceptor_loss	0.9900
4:80274907:A:C	acceptor_loss	0.9900
4:80274908:G:GA	acceptor_loss	0.9900
4:80274908:GGT:G	acceptor_gain	0.9900
4:80275010:AGT:A	donor_gain	0.9900
4:80275010:AGTG:A	donor_loss	0.9900
4:80275011:GTG:G	donor_gain	0.9900
4:80275011:GTGT:G	donor_loss	0.9900
4:80275012:TGT:T	donor_gain	0.9900
4:80275012:TGTAA:T	donor_loss	0.9900
4:80275013:G:A	donor_loss	0.9900
4:80275014:TAA:T	donor_loss	0.9900
4:80275015:AAGTA:A	donor_loss	0.9900
4:80275016:AGTAG:A	donor_loss	0.9900
4:80275017:G:C	donor_loss	0.9900
4:80286319:CCTTA:C	acceptor_loss	0.9900
4:80286320:CTTAG:C	acceptor_loss	0.9900
4:80286321:TTA:T	acceptor_loss	0.9900

AlphaMissense

1759 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:80267103:C:G	C93W	1.000
4:80267119:T:C	F99L	1.000
4:80267121:C:A	F99L	1.000
4:80267121:C:G	F99L	1.000
4:80286350:T:C	F162S	1.000
4:80286452:G:A	G196E	1.000
4:80286509:T:C	F215S	1.000
4:80267101:T:C	C93R	0.999
4:80267102:G:A	C93Y	0.999
4:80267126:T:C	L101P	0.999
4:80267150:T:A	V109D	0.999
4:80267156:G:A	G111E	0.999
4:80274951:T:A	I133K	0.999
4:80274954:G:C	R134P	0.999
4:80274956:G:A	G135R	0.999
4:80274956:G:C	G135R	0.999
4:80274957:G:A	G135E	0.999
4:80274974:T:C	F141L	0.999
4:80274976:T:A	F141L	0.999
4:80274976:T:G	F141L	0.999
4:80274978:T:C	L142S	0.999
4:80274995:G:A	G148R	0.999
4:80274995:G:C	G148R	0.999
4:80274996:G:A	G148E	0.999
4:80274996:G:T	G148V	0.999
4:80286345:C:G	C160W	0.999
4:80286350:T:G	F162C	0.999
4:80286385:T:C	Y174H	0.999
4:80286385:T:G	Y174D	0.999
4:80286427:T:A	W188R	0.999

dbSNP variants (sampled 300 via entrez): RS1000166696 (4:80280966 A>G), RS1000224671 (4:80283944 C>T), RS1000255049 (4:80266300 C>T), RS1000317588 (4:80270293 T>C), RS1000474568 (4:80288492 T>C), RS1000558434 (4:80284143 A>G), RS1000589583 (4:80283940 A>G), RS1000650333 (4:80271655 C>A,T), RS10006753 (4:80288688 G>A,C), RS1000837486 (4:80266261 G>C), RS1000865785 (4:80277418 ATTAGCACTT>A), RS1000868334 (4:80267488 G>A), RS1000878861 (4:80289013 G>T), RS10009362 (4:80266653 C>A,G,T), RS1001416696 (4:80286803 G>A)

Disease associations

OMIM: gene MIM:165190 | disease phenotypes: MIM:190330

GenCC curated gene-disease

Disease	Classification	Inheritance
hypertrichosis	Strong	Autosomal recessive
familial isolated trichomegaly	Supportive	Autosomal recessive
trichomegaly	No Known Disease Relationship	Autosomal recessive

Mondo (3): trichomegaly (MONDO:0008593), familial isolated trichomegaly (MONDO:0018472), hypertrichosis (MONDO:0019280)

Orphanet (0):

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000518	Cataract
HP:0000527	Long eyelashes

GWAS associations

133 associations (top):

Study	Trait	p-value
GCST000394_1	Diastolic blood pressure	1.000000e-21
GCST001227_13	Systolic blood pressure	2.000000e-23
GCST001228_15	Diastolic blood pressure	9.000000e-25
GCST001236_24	Blood pressure	3.000000e-14
GCST001791_21	Urate levels	7.000000e-07
GCST002497_22	Blood pressure	9.000000e-08
GCST002497_23	Blood pressure	2.000000e-11
GCST002627_7	Hypertension	8.000000e-18
GCST002630_8	Systolic blood pressure	2.000000e-22
GCST002631_12	Diastolic blood pressure	4.000000e-20
GCST003272_6	Systolic blood pressure	5.000000e-08
GCST003272_7	Systolic blood pressure	1.000000e-07
GCST003273_3	Diastolic blood pressure	1.000000e-09
GCST003273_4	Diastolic blood pressure	2.000000e-14
GCST003273_9	Diastolic blood pressure	3.000000e-08
GCST003275_12	Mean arterial pressure	9.000000e-12
GCST003275_13	Mean arterial pressure	1.000000e-07
GCST003275_3	Mean arterial pressure	2.000000e-17
GCST003983_37	Male-pattern baldness	6.000000e-09
GCST003996_18	Monobrow	6.000000e-10
GCST004279_24	Systolic blood pressure	1.000000e-09
GCST004280_19	Diastolic blood pressure	1.000000e-07
GCST004775_20	Pulse pressure	1.000000e-06
GCST004776_16	Systolic blood pressure	1.000000e-16
GCST004777_50	Diastolic blood pressure	8.000000e-17
GCST004787_32	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	6.000000e-09
GCST004888_1	Systolic blood pressure	2.000000e-07
GCST004890_1	Diastolic blood pressure	4.000000e-07
GCST004891_1	Mean arterial pressure	5.000000e-08
GCST005116_25	Male-pattern baldness	5.000000e-25

EFO canonical traits (22, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0004531	urate measurement
EFO:0005763	pulse pressure measurement
EFO:0007906	synophrys measurement
EFO:0004761	uric acid measurement
EFO:0004305	erythrocyte count
EFO:0009283	potassium measurement
EFO:0004329	alcohol drinking
EFO:0006527	smoking status measurement
EFO:0003924	hair color
EFO:0009929	Beta blocking agent use measurement
EFO:0009928	Diuretic use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0007820	cognitive behavioural therapy
EFO:0004509	hemoglobin measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004462	PR interval

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006983	Hypertrichosis	C17.800.329.875

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1458038	FGF5		0.00	0
rs16998073	FGF5		0.00	0

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects acetylation, affects methylation, affects cotreatment, increases abundance	3
Benzo(a)pyrene	increases expression, increases methylation	2
Aflatoxin B1	decreases methylation, increases expression	2
Glupearl 19S	decreases expression	1
fluorene-9-bisphenol	increases expression	1
bisphenol A	decreases expression	1
kojic acid	decreases expression	1
arsenite	decreases expression, increases methylation	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
nickel sulfate	decreases expression	1
1-nitropyrene	increases expression	1
tebuconazole	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	affects acetylation, affects methylation	1
jinfukang	decreases expression	1
Valsartan	decreases reaction, increases expression	1
Dasatinib	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arbutin	decreases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Arsenicals	increases expression	1
Copper	affects cotreatment, decreases expression	1
Doxorubicin	affects response to substance	1
Estradiol	increases expression, affects cotreatment	1
Formaldehyde	decreases expression	1
Heparin	affects activity	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Melphalan	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9ET	Ubigene HEK293 FGF5 KO	Transformed cell line	Female

Clinical trials (associated diseases)

11 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01212172	PHASE3	COMPLETED	Comparison of Efficacy, Safety and Tolerability of Two Different 810 nm Diode Lasers for Hair Reduction
NCT00580736	PHASE1	COMPLETED	Optical Clearing of the Skin in Conjunction With Laser Treatments
NCT00371930	PHASE1/PHASE2	UNKNOWN	Photodynamic Therapy for Permanent Hair Removal
NCT02793557	PHASE1/PHASE2	COMPLETED	Investigation of FOL-005 on Clinical Safety and Effect on Hair Growth
NCT00441948	Not specified	UNKNOWN	Enhanced Safety Laser Hair Removal System
NCT00495443	Not specified	UNKNOWN	Enhanced Safety Aesthetic Laser System
NCT00773136	Not specified	COMPLETED	Eyelash Growth From Application of Bimatoprost in Gel Suspension to the Base of the Eyelashes
NCT01912950	Not specified	COMPLETED	Pilot Study of a Novel IPL for Removal of Unwanted Fine Body Hair
NCT02536092	Not specified	WITHDRAWN	A Prospective Multi-Center Study of a Novel Dual-Wavelength Laser for Hair Removal
NCT03273504	Not specified	COMPLETED	Efficacy Evaluation of the Activity of a Cosmetic Product (Topical Use) on Hair Regrowth vs Placebo
NCT05775328	Not specified	RECRUITING	Treatment of Hypertrichosis With Intense Pulsed Light