FNDC5

Summary

FNDC5 (fibronectin type III domain containing 5, HGNC:20240) is a protein-coding gene on chromosome 1p35.1, encoding Fibronectin type III domain-containing protein 5 (Q8NAU1). Mediates beneficial effects of muscular exercise.

This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 252995 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 26 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20240
Approved symbol	FNDC5
Name	fibronectin type III domain containing 5
Location	1p35.1
Locus type	gene with protein product
Status	Approved
Aliases	FRCP2
Ensembl gene	ENSG00000160097
Ensembl biotype	protein_coding
OMIM	611906
Entrez	252995

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000373471, ENST00000465346, ENST00000481487, ENST00000483143, ENST00000496770, ENST00000497068, ENST00000649537, ENST00000710568

RefSeq mRNA: 3 — MANE Select: None NM_001171940, NM_001171941, NM_153756

CCDS: CCDS369, CCDS65483

Canonical transcript exons

ENST00000373471 — 6 exons

Exon	Start	End
ENSE00001217156	32864664	32864797
ENSE00001751279	32868882	32868997
ENSE00001823491	32862268	32864299
ENSE00001862258	32870653	32870912
ENSE00003591295	32868190	32868388
ENSE00003704806	32867753	32867842

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 97.64.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4676 / max 143.0859, expressed in 457 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11559	1.9543	395
11560	0.2622	140
11562	0.2157	95
11561	0.0354	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.50	gold quality
vastus lateralis	UBERON:0001379	97.40	gold quality
biceps brachii	UBERON:0001507	97.20	gold quality
quadriceps femoris	UBERON:0001377	97.10	gold quality
skeletal muscle tissue	UBERON:0001134	96.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.60	gold quality
gastrocnemius	UBERON:0001388	96.44	gold quality
cerebellar hemisphere	UBERON:0002245	96.17	gold quality
cerebellar cortex	UBERON:0002129	96.12	gold quality
apex of heart	UBERON:0002098	96.09	gold quality
deltoid	UBERON:0001476	95.96	gold quality
muscle of leg	UBERON:0001383	95.83	gold quality
cerebellum	UBERON:0002037	95.50	gold quality
muscle tissue	UBERON:0002385	94.86	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.63	gold quality
tibialis anterior	UBERON:0001385	94.49	silver quality
right atrium auricular region	UBERON:0006631	93.21	gold quality
heart left ventricle	UBERON:0002084	93.20	gold quality
cardiac atrium	UBERON:0002081	93.07	gold quality
cardiac ventricle	UBERON:0002082	92.95	gold quality
left ventricle myocardium	UBERON:0006566	92.87	gold quality
body of tongue	UBERON:0011876	91.64	gold quality
right frontal lobe	UBERON:0002810	91.30	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.26	gold quality
parotid gland	UBERON:0001831	90.49	gold quality
myocardium	UBERON:0002349	90.25	gold quality
heart	UBERON:0000948	90.23	gold quality
prefrontal cortex	UBERON:0000451	89.68	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

137 targeting FNDC5, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4713-5P	99.78	67.80	1794

Literature-anchored findings (GeneRIF, showing 40)

• infers non-AUG translation initiation codon for FNDC5 based on evolutionary comparisons; only human has an ““ATA”” at a position that is ““ATG”” in other mammals (PMID:21266472)
• Experimental evidence (Western and mass spectrometry) of mouse and human secreted irisin peptide (PMID:22237023)
• Circulating irisin levels increase in response to acute exercise whereas muscle FNDC5 mRNA and circulating irisin levels decrease after surgically induced weight loss in parallel to decrease in body mass. (PMID:23018146)
• Circulating irisin is affected under conditions of altered BMI with highest levels in severely obese patients. (PMID:23219488)
• Decreased circulating irisin concentration and FNDC5 gene expression in adipose tissue and muscle from obese and type 2 diabetic subjects suggests a loss of brown-like characteristics and a potential target for therapy. (PMID:23436919)
• Irisin may help explain some of the observed variability in individual energy requirements that cannot be accounted for by fat free mass (PMID:23578923)
• Plasma irisin levels appear to be associated with important metabolic factors in non-diabetic subjects but not in individuals with type 2 diabetes. (PMID:23619195)
• FNDC5 gene, encoding the novel myokine irisin, determines insulin sensitivity in humans (PMID:23637927)
• serum irisin concentrations were inversely associated with the triglyceride contents in the liver and liver enzymes in obese Chinese adults (PMID:23665283)
• Chronic kidney disease patients have lower than normal irisin levels at rest. (PMID:23667695)
• Hemodialysis patients seem to have lower plasma irisin when compared to healthy subjects. (PMID:24013946)
• Data indicate that start codon of FNDC5 (irisin) gene is mutated. (PMID:24040023)
• Data suggest that up-regulation of serum irisin levels is associated with increased risk of metabolic syndrome, increased risk of insulin resistance, and increased 10-year risk of cardiovascular disease. (PMID:24057291)
• findings indicate that prolonged aerobic exercise produces a transient increase in irisin concentrations during the first hour of exercise for both genders (PMID:24062088)
• Biochemical data confirm that irisin is a dimer and that dimerization is unaffected by glycosylation. (PMID:24114836)
• Serum irisin levels differ between lean controls and obese controls or NAFLD patients. Despite similar circulating irisin levels between NAFL and NASH groups, irisin may be independently and positively associated with the presence of portal inflammation. (PMID:24140091)
• Data suggest that both FNDC5 and PPARGC1A (peroxisome proliferator-activated receptor gamma coactivator 1 alpha) mRNA levels in skeletal muscle increase after 12 weeks of exercise training in both control and prediabetes/overweight men. (PMID:24237962)
• Exercise did not affect Fndc5/irisin. However, irisin was positively linked to muscle mass, strength and metabolism, pointing to common regulatory factors and/or the potential for irisin to modify muscle phenotype. (PMID:24297848)
• irisin is secreted by skeletal muscle due to exercise, has positive effects on energy metabolism, and acts as a messenger on white adipose tissue, modifying its phenotype into the beige adipocyte and increasing its thermogenic capacity (PMID:24332558)
• The myokine irisin is independently associated with fasting insulin in pregnancy. (PMID:24355429)
• Irisin levels were higher in obese than in normal-weight subjects and were also higher in men than in women. Irisin plasma levels were significantly correlated with high levels of direct and indirect adiposity markers, but not height or leptin levels. (PMID:24375850)
• Irisin was detectable in CSF and colocalized with NPY in paraventricular neurons. Maternal serum irisin was lower in nonobese pregnant women after adjusting for BMI and a number of metabolic parameters. (PMID:24398403)
• Irisin serum concentrations decrease with increasing CKD stage and are independently and positively predicted by renal function and insulin resistance. (PMID:24399249)
• irisin could be secreted as an adaptive response to counteract the deleterious effect of excess adiposity on glucose homeostasis (PMID:24439241)
• The role of irisin in the differentiation of white adipocytes into brown adipocytes via the ERK pathway is discussed. (PMID:24464712)
• Irisin and FGF21 are cold-induced endocrine activators of brown fat function in humans. (PMID:24506871)
• We did not find differences in circulating irisin levels between control subjects and those with morbid obesity or T2 diabetes. (PMID:24510629)
• In Japanese men, cardiorespiratory fitness levels and common SNPs in FNDC5 are not associated with circulating irisin levels (PMID:24559842)
• There appears to be a sexual dimorphic response of irisin to sprint interval training. (PMID:24603718)
• These results suggest that irisin/FNDC5 has a pleiotropic role in muscle and improvement of adipocyte metabolism in humans. (PMID:24614098)
• Blood irisin levels are associated with insulin resistance and vascular atherosclerosis. (PMID:24619655)
• Irisin may be involved in reproductive function and in the pregnancy-associated metabolic changes. (PMID:24628554)
• irisin may play an important role in insulin resistance and MetS (PMID:24709991)
• Circulating irisin levels were not different in individuals with detectable brown adipose tissue or those with sarcopenia compared with control subjects and were not correlated with skeletal muscle mass index. (PMID:24780049)
• umbilical artery irisin levels were lower in pregnancies complicated by foetal growth restriction. (PMID:24789538)
• Healthy centenarians are characterized by increased serum irisin levels, whereas levels of this molecule were found to be significantly lower in young patients with myocardial infarction. (PMID:24813865)
• serum concentration increases markedly in pregnant women, but this increase seems to be significantly lower in patients with gestational diabetes mellitus (PMID:24850254)
• These findings suggest that irisin secretion after acute running exercise is affected by exercise intensity, independent of energy consumption. (PMID:24910199)
• results demonstrated that circulating irisin levels were decreased in newly diagnosed Chinese type 2 diabetic patients without clinical angiopathy and positively associated with flow-mediated dilation levels (PMID:24911636)
• In healthy, young individuals, circulating irisin displays a day-night rhythm, is correlated with lean body mass, and increases acutely after exercise. (PMID:24915120)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fndc5b	ENSDARG00000035895
danio_rerio	fndc5a	ENSDARG00000069739
mus_musculus	Fndc5	ENSMUSG00000001334
rattus_norvegicus	Fndc5	ENSRNOG00000030238

Paralogs (1): FNDC4 (ENSG00000115226)

Protein

Protein identifiers

Fibronectin type III domain-containing protein 5 — Q8NAU1 (reviewed: Q8NAU1)

Alternative names: Fibronectin type III repeat-containing protein 2

All UniProt accessions (3): Q8NAU1, A0A0A0MRR6, A0A3B3ITP1

UniProt curated annotations — full annotation on UniProt →

Function. Mediates beneficial effects of muscular exercise. Induces browning of white adipose tissue by stimulating UCP1 expression, at least in part, via the nuclear receptor PPARA.

Subunit / interactions. Dimer; may exist in other oligomeric forms.

Subcellular location. Cell membrane. Peroxisome membrane Secreted.

Tissue specificity. Widely expressed, with highest levels in heart. Very low expression, if any, in colon, pancreas and spleen.

Post-translational modifications. The extracellular domain is cleaved and released from the cell membrane. N-Glycosylated.

Domain organisation. Fibronectin type-III domain is capable of forming a continuous intersubunit beta-sheet dimer; dimerization may thereby play a role in cell-cell adhesion or signaling.

Induction. Up-regulated twofold by muscular exercise at the mRNA and protein level; this effect has been suggested to be mediated by PPARGC1A. However, up-regulation at the mRNA level upon exercise could not be reproduced in another study. Present in sedentary individuals with significantly increased levels in individuals undergoing aerobic interval training.

Miscellaneous. Produced by alternative promoter usage. Produced by alternative splicing of isoform 1. Produced by alternative promoter usage and alternative splicing. Produced by alternative promoter usage.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8NAU1-5	1	yes
Q8NAU1-2	2
Q8NAU1-3	3
Q8NAU1-4	4

RefSeq proteins (3): NP_001165411, NP_001165412, NP_715637 (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR052120	FNDC_type_III_4/5	Family

Pfam: PF00041

UniProt features (27 total): strand 7, compositionally biased region 4, splice variant 4, chain 2, glycosylation site 2, region of interest 2, site 1, mutagenesis site 1, transmembrane region 1, turn 1, domain 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4LSD	X-RAY DIFFRACTION	2.28

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NAU1-F1	72.89	0.39

Functional residue map

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

Catalytic / active sites (1): 126 (required for dimerization)

Glycosylation sites (2): 87, 132

Mutagenesis-validated functional residues (1):

Position	Phenotype
126	abolishes dimerization; probably prevents inter-subunit salt bridge formation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 131 (showing top): GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, GCANCTGNY_MYOD_Q6, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, AAGCCAT_MIR135A_MIR135B, AP4_Q6, GOBP_REGULATION_OF_BROWN_FAT_CELL_DIFFERENTIATION, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, MYOD_01, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_BROWN_FAT_CELL_DIFFERENTIATION, AAAGACA_MIR511, MYOD_Q6

GO Biological Process (3): response to muscle activity (GO:0014850), positive regulation of brown fat cell differentiation (GO:0090336), signal transduction (GO:0007165)

GO Molecular Function (2): hormone activity (GO:0005179), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), peroxisomal membrane (GO:0005778), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), peroxisome (GO:0005777), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
response to activity	1
positive regulation of fat cell differentiation	1
brown fat cell differentiation	1
regulation of brown fat cell differentiation	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
receptor ligand activity	1
binding	1
peroxisome	1
microbody membrane	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
microbody	1

Protein interactions and networks

STRING

1108 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FNDC5	UCP1	P25874	793
FNDC5	PPARGC1A	Q9UBK2	790
FNDC5	FGF21	Q9NSA1	774
FNDC5	MSTN	O14793	773
FNDC5	FN1	P02751	717
FNDC5	METRN	Q9UJH8	699
FNDC5	BDNF	P23560	676
FNDC5	INS	P01308	666
FNDC5	ADIPOQ	Q15848	665
FNDC5	LEP	P41159	660
FNDC5	METRNL	Q641Q3	649
FNDC5	RARRES2	Q99969	633
FNDC5	PRDM16	Q9HAZ2	623
FNDC5	CRP	P02741	608
FNDC5	OSTN	P61366	608

IntAct

4 interactions, top by confidence:

A	B	Type	Score
FNDC5	CAPN15	psi-mi:“MI:0914”(association)	0.350
FNDC5	A2ML1	psi-mi:“MI:0914”(association)	0.350
FNDC5	BAG6	psi-mi:“MI:0914”(association)	0.350

BioGRID (161): CAPN15 (Affinity Capture-MS), TMCO3 (Affinity Capture-MS), SLC9A1 (Affinity Capture-MS), ATP2A3 (Affinity Capture-MS), ENDOD1 (Affinity Capture-MS), GNAL (Affinity Capture-MS), RHBDD3 (Affinity Capture-MS), GHITM (Affinity Capture-MS), FNDC5 (Affinity Capture-RNA), FNDC5 (Affinity Capture-MS), GNAL (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), ENDOD1 (Affinity Capture-MS), RHBDD3 (Affinity Capture-MS), SLC9A1 (Affinity Capture-MS)

ESM2 similar proteins: A1L3I3, A2A9G7, A6QNY1, A6QPL2, D3ZF92, O35664, O75509, O88324, P03173, P03218, P06475, P0C192, P0CC10, P10228, P13374, P28986, P98154, P98162, Q01151, Q12913, Q1L867, Q1RMT9, Q29000, Q3TR08, Q56A20, Q5BIR3, Q5R7R7, Q5RCS3, Q5RD34, Q5VUB5, Q61003, Q6DF55, Q6RJQ3, Q7TMJ8, Q8CFD9, Q8K3V5, Q8K4Z2, Q8NAU1, Q8TBC3, Q91ZV2

Diamond homologs: A6QPL2, O18016, O18023, Q1L867, Q3TR08, Q8K3V5, Q8K4Z2, Q8NAU1, Q8WZ42, Q98949, Q9H6D8, B0V2N1, F1NWE3, G5EF96, Q13332, Q64605, Q8AV57, P16621

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1123 predictions. Top by Δscore:

Variant	Effect	Δscore
1:32864793:GACAC:G	acceptor_gain	1.0000
1:32864795:CAC:C	acceptor_gain	1.0000
1:32864796:AC:A	acceptor_gain	1.0000
1:32864796:ACC:A	acceptor_loss	1.0000
1:32864797:CC:C	acceptor_gain	1.0000
1:32864798:C:CC	acceptor_gain	1.0000
1:32864798:CT:C	acceptor_loss	1.0000
1:32864799:T:C	acceptor_loss	1.0000
1:32867748:CTCA:C	donor_loss	1.0000
1:32867749:TCA:T	donor_loss	1.0000
1:32867750:CA:C	donor_loss	1.0000
1:32867838:CTCAT:C	acceptor_gain	1.0000
1:32867839:TCAT:T	acceptor_gain	1.0000
1:32867840:CAT:C	acceptor_gain	1.0000
1:32867840:CATC:C	acceptor_gain	1.0000
1:32867841:AT:A	acceptor_gain	1.0000
1:32867841:ATCT:A	acceptor_loss	1.0000
1:32867842:TCTG:T	acceptor_loss	1.0000
1:32867843:C:CA	acceptor_loss	1.0000
1:32867843:C:CC	acceptor_gain	1.0000
1:32867844:T:A	acceptor_loss	1.0000
1:32868172:A:C	donor_gain	1.0000
1:32868215:AG:A	donor_gain	1.0000
1:32868386:CTT:C	acceptor_gain	1.0000
1:32868389:C:CC	acceptor_gain	1.0000
1:32868994:CTGT:C	acceptor_gain	1.0000
1:32864438:C:CC	donor_gain	0.9900
1:32864661:CACCT:C	donor_loss	0.9900
1:32864662:A:AT	donor_loss	0.9900
1:32864663:C:G	donor_loss	0.9900

AlphaMissense

1397 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:32864781:G:C	F172L	1.000
1:32864781:G:T	F172L	1.000
1:32864783:A:G	F172L	1.000
1:32867759:A:G	W165R	1.000
1:32867759:A:T	W165R	1.000
1:32868291:A:T	V103D	1.000
1:32868315:A:G	L95P	1.000
1:32868901:C:T	G64E	1.000
1:32868930:C:A	W54C	1.000
1:32868930:C:G	W54C	1.000
1:32868932:A:G	W54R	1.000
1:32868932:A:T	W54R	1.000
1:32864757:C:A	K180N	0.999
1:32864757:C:G	K180N	0.999
1:32864761:A:G	I179T	0.999
1:32864761:A:T	I179N	0.999
1:32864771:A:C	Y176D	0.999
1:32864797:C:T	G167D	0.999
1:32867753:C:G	G167R	0.999
1:32868234:A:G	F122S	0.999
1:32868285:A:T	V105E	0.999
1:32868297:T:C	Y101C	0.999
1:32868297:T:G	Y101S	0.999
1:32868298:A:C	Y101D	0.999
1:32868298:A:G	Y101H	0.999
1:32868315:A:T	L95Q	0.999
1:32868324:A:G	L92P	0.999
1:32868324:A:T	L92H	0.999
1:32868892:A:T	I67N	0.999
1:32868897:A:C	F65L	0.999

dbSNP variants (sampled 300 via entrez): RS1000007957 (1:32866994 G>A), RS1000504178 (1:32872825 C>A,T), RS1001406244 (1:32872422 C>T), RS1001460771 (1:32866574 T>C), RS1001782688 (1:32861788 T>G), RS1001958026 (1:32870976 G>A,C), RS1002247007 (1:32865000 C>A), RS1002280480 (1:32867240 C>T), RS1002625617 (1:32873520 G>A), RS1002740646 (1:32866954 G>T), RS1002838220 (1:32863182 C>T), RS1002944965 (1:32870387 C>T), RS1003335089 (1:32868642 G>C), RS1003407768 (1:32870107 C>T), RS1003693690 (1:32869104 G>A,C)

Disease associations

OMIM: gene MIM:611906 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST011494_3	Daytime nap	2.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, affects cotreatment	7
trichostatin A	affects cotreatment, decreases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation	2
Doxorubicin	decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	increases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	increases expression	1
propionaldehyde	increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
sodium arsenite	decreases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Vorinostat	affects cotreatment, decreases expression	1
Cadmium	increases abundance, increases palmitoylation, decreases reaction	1
Carbamazepine	affects expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SN82	HAP1 FNDC5 (-) 1	Cancer cell line	Male
CVCL_XN85	HAP1 FNDC5 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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