MYO1F

Summary

MYO1F (myosin IF, HGNC:7600) is a protein-coding gene on chromosome 19p13.2, encoding Unconventional myosin-If (O00160). Myosins are actin-based motor molecules with ATPase activity.

Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss.

Source: NCBI Gene 4542 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nonsyndromic genetic hearing loss (Disputed, ClinGen)
• GWAS associations: 19
• Clinical variants (ClinVar): 378 total
• Druggable target: yes
• MANE Select transcript: NM_012335

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7600
Approved symbol	MYO1F
Name	myosin IF
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000142347
Ensembl biotype	protein_coding
OMIM	601480
Entrez	4542

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 15 retained_intron, 13 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000594774, ENST00000594977, ENST00000595046, ENST00000595191, ENST00000595325, ENST00000596245, ENST00000596645, ENST00000596675, ENST00000596937, ENST00000597222, ENST00000597459, ENST00000598005, ENST00000598321, ENST00000598529, ENST00000598797, ENST00000599123, ENST00000600825, ENST00000600885, ENST00000601502, ENST00000602136, ENST00000644032, ENST00000718254, ENST00000877845, ENST00000877846, ENST00000877847, ENST00000877848, ENST00000877849, ENST00000918492, ENST00000951048, ENST00000951049, ENST00000951050, ENST00000951051

RefSeq mRNA: 2 — MANE Select: NM_012335 NM_001348355, NM_012335

CCDS: CCDS42494

Canonical transcript exons

ENST00000644032 — 28 exons

Exon	Start	End
ENSE00001116904	8544297	8544464
ENSE00001116917	8541906	8541991
ENSE00001116926	8545650	8545736
ENSE00001116933	8526453	8526601
ENSE00001154325	8522634	8522829
ENSE00001237513	8539947	8540028
ENSE00001237554	8550160	8550356
ENSE00001628753	8522377	8522546
ENSE00003076059	8577307	8577442
ENSE00003463683	8555659	8555796
ENSE00003470584	8551740	8551874
ENSE00003472634	8554654	8554743
ENSE00003478593	8536252	8536396
ENSE00003487888	8553139	8553228
ENSE00003522138	8525479	8525562
ENSE00003537572	8554477	8554571
ENSE00003563632	8536499	8536597
ENSE00003563794	8536949	8537055
ENSE00003594036	8550562	8550694
ENSE00003632575	8527338	8527483
ENSE00003639601	8552033	8552164
ENSE00003658256	8548036	8548122
ENSE00003661300	8530196	8530365
ENSE00003669293	8530459	8530573
ENSE00003672169	8548237	8548317
ENSE00003677643	8526789	8526935
ENSE00003785818	8553350	8553437
ENSE00004034546	8520778	8521604

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 99.48.

FANTOM5 (CAGE): breadth broad, TPM avg 21.7906 / max 1961.4152, expressed in 566 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178967	21.1945	557
178962	0.2897	100
178968	0.1879	97
178963	0.1185	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.48	gold quality
monocyte	CL:0000576	99.06	gold quality
mononuclear cell	CL:0000842	99.05	gold quality
leukocyte	CL:0000738	99.04	gold quality
blood	UBERON:0000178	98.84	gold quality
spleen	UBERON:0002106	97.57	gold quality
bone marrow cell	CL:0002092	96.92	gold quality
bone marrow	UBERON:0002371	95.50	gold quality
right lung	UBERON:0002167	94.06	gold quality
vermiform appendix	UBERON:0001154	93.53	gold quality
upper lobe of left lung	UBERON:0008952	93.47	gold quality
sural nerve	UBERON:0015488	93.06	gold quality
trabecular bone tissue	UBERON:0002483	92.96	gold quality
upper lobe of lung	UBERON:0008948	92.49	gold quality
periodontal ligament	UBERON:0008266	91.78	gold quality
buccal mucosa cell	CL:0002336	90.17	gold quality
lymph node	UBERON:0000029	89.81	gold quality
caecum	UBERON:0001153	89.44	gold quality
lung	UBERON:0002048	88.25	gold quality
decidua	UBERON:0002450	87.89	gold quality
gall bladder	UBERON:0002110	87.41	gold quality
colonic epithelium	UBERON:0000397	87.14	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.00	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	86.47	gold quality
omental fat pad	UBERON:0010414	86.22	gold quality
peritoneum	UBERON:0002358	86.17	gold quality
right coronary artery	UBERON:0001625	86.07	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.88	gold quality
small intestine	UBERON:0002108	85.84	gold quality
tonsil	UBERON:0002372	85.17	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	122.23
E-HCAD-1	yes	79.97
E-CURD-122	yes	64.70
E-MTAB-9467	yes	45.35
E-MTAB-6701	yes	42.29
E-HCAD-8	yes	40.77
E-HCAD-10	yes	26.99
E-MTAB-6678	yes	24.46
E-CURD-112	yes	22.81
E-HCAD-9	yes	17.71
E-MTAB-8410	yes	13.02
E-MTAB-9067	yes	11.69
E-MTAB-8498	yes	11.49
E-MTAB-9801	yes	8.64
E-CURD-119	yes	5.85

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 6)

• identification of 6 heterozygous missense mutations in MYO1C and additional 5 heterozygous missense mutations in MYO1F in bilateral sensorineural hearing loss (PMID:19027848)
• Mutations in MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer. (PMID:29672841)
• Myo1f, an Unconventional Long-Tailed Myosin, Is a New Partner for the Adaptor 3BP2 Involved in Mast Cell Migration. (PMID:31143189)
• NCF2, MYO1F, S1PR4, and FCN1 as potential noninvasive diagnostic biomarkers in patients with obstructive coronary artery: A weighted gene co-expression network analysis. (PMID:31245869)
• MYO1F Regulates IgE and MRGPRX2-Dependent Mast Cell Exocytosis. (PMID:33941653)
• Role of MYO1F in neutrophil and macrophage recruitment and pro-inflammatory cytokine production in Aspergillus fumigatus keratitis. (PMID:39276460)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo1f	ENSDARG00000078734
mus_musculus	Myo1f	ENSMUSG00000024300
rattus_norvegicus	Myo1f	ENSRNOG00000008409

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-If — O00160 (reviewed: O00160)

Alternative names: Myosin-Ie

All UniProt accessions (4): O00160, M0QXU2, M0QXU5, M0QY89

UniProt curated annotations — full annotation on UniProt →

Function. Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments.

Disease relevance. Defects in MYO1F has been found in a patient with a form of non-syndromic sensorineural hearing loss.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

RefSeq proteins (2): NP_001335284, NP_036467* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001609	Myosin_head_motor_dom-like	Domain
IPR010926	Myosin_TH1	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035507	Ie/If_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036072	MYSc_Myo1	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00018, PF00063, PF06017

UniProt features (30 total): sequence conflict 17, domain 4, region of interest 3, sequence variant 2, chain 1, modified residue 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00160-F1	81.47	0.44

Functional residue map

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

Ligand- & substrate-binding residues (1): 110–117

Post-translational modifications (1): 1023

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 301 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, GOLDRATH_ANTIGEN_RESPONSE, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GNF2_ICAM3, GOBP_ACTIN_FILAMENT_ORGANIZATION, GNF2_S100A4, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, SUH_COEXPRESSED_WITH_ID1_AND_ID2_UP, GNF2_HCK, GNF2_CD97, COATES_MACROPHAGE_M1_VS_M2_DN

GO Biological Process (2): endocytosis (GO:0006897), actin filament organization (GO:0007015)

GO Molecular Function (8): microfilament motor activity (GO:0000146), actin binding (GO:0003779), calmodulin binding (GO:0005516), ATP binding (GO:0005524), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein binding (GO:0005515)

GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), microvillus (GO:0005902), actin cytoskeleton (GO:0015629), unconventional myosin complex (GO:0016461), myosin complex (GO:0016459)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
cytoskeletal protein binding	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
actin filament bundle	1
actin-based cell projection	1
cytoskeleton	1
myosin complex	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

2342 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO1F	CDH23	Q9H251	695
MYO1F	GIPC3	Q8TF64	685
MYO1F	THAP4	Q8WY91	526
MYO1F	OMP	P47874	490
MYO1F	DOCK2	Q92608	488
MYO1F	E9PNW1	E9PNW1	416
MYO1F	GUCY2F	P51841	407
MYO1F	OPTC	Q9UBM4	404
MYO1F	CARMIL1	Q5VZK9	399
MYO1F	WAS	P42768	378
MYO1F	FCER1G	P30273	375
MYO1F	COTL1	Q14019	373
MYO1F	STPG2	Q8N412	372
MYO1F	SH3BP5	O60239	357
MYO1F	HID1	Q8IV36	354

IntAct

32 interactions, top by confidence:

A	B	Type	Score
MYO1F	OSTF1	psi-mi:“MI:0915”(physical association)	0.590
MYO1F	SCNM1	psi-mi:“MI:0915”(physical association)	0.560
MYO1F	ATOSB	psi-mi:“MI:0915”(physical association)	0.560
MYO1F	SH3BP2	psi-mi:“MI:0915”(physical association)	0.560
VAMP5	NBAS	psi-mi:“MI:0914”(association)	0.530
MYO1F	LMNB1	psi-mi:“MI:0915”(physical association)	0.400
MYO1F	H1-0	psi-mi:“MI:0915”(physical association)	0.400
NLRP12	MYO1F	psi-mi:“MI:0915”(physical association)	0.370
IRF9	MYO1F	psi-mi:“MI:0915”(physical association)	0.370
EWSR1	MYO1F	psi-mi:“MI:0915”(physical association)	0.370
AVIL	DDX11L8	psi-mi:“MI:0914”(association)	0.350
TRIM35	LIMK2	psi-mi:“MI:0914”(association)	0.350
IL1RL2	MYO1F	psi-mi:“MI:0914”(association)	0.350
INHBE	MYO1F	psi-mi:“MI:0914”(association)	0.350
PYCR2	MYO1F	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
CDKL2	MYO1C	psi-mi:“MI:0914”(association)	0.350
RHBDD1	A2ML1	psi-mi:“MI:0914”(association)	0.350
KLK10	IGLL5	psi-mi:“MI:0914”(association)	0.350
DDX54	MYO1F	psi-mi:“MI:0914”(association)	0.350
KIF20A	MYO1F	psi-mi:“MI:0914”(association)	0.350
STYK1	MYO1F	psi-mi:“MI:0914”(association)	0.350
	MYO1C	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
SCNM1	MYO1F	psi-mi:“MI:0915”(physical association)	0.000
ATOSB	MYO1F	psi-mi:“MI:0915”(physical association)	0.000
SH3BP2	MYO1F	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (44): MYO1F (Affinity Capture-MS), MYO1F (Two-hybrid), OSTF1 (Affinity Capture-MS), MYO1F (Affinity Capture-MS), MYO1F (Affinity Capture-MS), MYO1F (Affinity Capture-MS), MYO1F (Affinity Capture-MS), MYO1F (Affinity Capture-MS), MYO1F (Affinity Capture-MS), MYO1F (Two-hybrid), MYO1F (Two-hybrid), SCNM1 (Two-hybrid), MYO1F (Affinity Capture-MS), MYO1F (Proximity Label-MS), LMNB1 (Proximity Label-MS)

ESM2 similar proteins: A0MP03, A3LYL7, A5DKH0, A5PF48, A6ZMG6, E7F9L8, E9Q634, F1PRN2, F4I460, F4JM19, O00159, O00160, O08638, O88329, O94832, P10568, P10587, P11055, P35748, P35749, P70248, P97479, Q01989, Q04439, Q076A3, Q12965, Q13402, Q17LW0, Q17R14, Q23979, Q27966, Q29P71, Q5SYD0, Q5ZLA6, Q62774, Q62812, Q63355, Q63356, Q63357, Q6BUQ2

Diamond homologs: A0MP03, A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A5DKH0, A5E4A8, A5PF48, A6SED8, A6ZMG6, A6ZZJ1, A7EK16, A7TDZ8, A8N2Y6, A8PWF6, B0CRJ3, B0I1T2, B0Y9Q4, D3ZJP6, E7F9L8, E9Q634, F1PRN2, F4HWY6, F4I5Q6, F4IUG9, F4IVR7, F4JM19, F4K5J1, K7U9N8, O00159, O00160, O43795, O88329, O94832, P0CP00, P0CP01, P10568, P10569, P19706

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	177
Likely benign	65
Benign	95

Top pathogenic / likely-pathogenic (0)

SpliceAI

4153 predictions. Top by Δscore:

Variant	Effect	Δscore
19:8522375:A:T	donor_loss	1.0000
19:8522376:C:CT	donor_loss	1.0000
19:8522542:GCATG:G	acceptor_gain	1.0000
19:8522543:CATG:C	acceptor_gain	1.0000
19:8522543:CATGC:C	acceptor_gain	1.0000
19:8522544:ATG:A	acceptor_gain	1.0000
19:8522545:TG:T	acceptor_gain	1.0000
19:8522545:TGC:T	acceptor_loss	1.0000
19:8522546:GCTG:G	acceptor_loss	1.0000
19:8522547:C:CC	acceptor_gain	1.0000
19:8522547:CT:C	acceptor_loss	1.0000
19:8522632:AC:A	donor_gain	1.0000
19:8522633:CC:C	donor_gain	1.0000
19:8525473:CCTCA:C	donor_loss	1.0000
19:8525474:CTCAC:C	donor_loss	1.0000
19:8525475:TCAC:T	donor_loss	1.0000
19:8525476:CAC:C	donor_loss	1.0000
19:8525477:A:AG	donor_loss	1.0000
19:8525478:C:CA	donor_loss	1.0000
19:8525478:CCT:C	donor_gain	1.0000
19:8525558:AGGCT:A	acceptor_gain	1.0000
19:8525559:GGCT:G	acceptor_gain	1.0000
19:8525561:CT:C	acceptor_gain	1.0000
19:8525563:C:CC	acceptor_gain	1.0000
19:8526451:A:AC	donor_gain	1.0000
19:8526452:C:CA	donor_gain	1.0000
19:8526787:A:AC	donor_gain	1.0000
19:8526788:C:CC	donor_gain	1.0000
19:8526788:CGTGT:C	donor_gain	1.0000
19:8526828:T:TA	donor_gain	1.0000

AlphaMissense

7260 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:8530527:G:T	A697D	1.000
19:8536568:A:G	L610P	1.000
19:8536996:G:C	C584W	1.000
19:8537039:A:G	L570P	1.000
19:8544304:G:T	A506D	1.000
19:8545666:A:G	L447P	1.000
19:8545709:A:G	W433R	1.000
19:8545709:A:T	W433R	1.000
19:8548049:A:G	L419P	1.000
19:8548055:A:G	L417P	1.000
19:8548063:A:C	F414L	1.000
19:8548063:A:T	F414L	1.000
19:8548065:A:G	F414L	1.000
19:8548076:A:G	L410P	1.000
19:8548081:C:A	E408D	1.000
19:8548081:C:G	E408D	1.000
19:8548082:T:A	E408V	1.000
19:8548084:A:C	N407K	1.000
19:8548084:A:T	N407K	1.000
19:8548088:A:T	V406D	1.000
19:8548093:G:C	N404K	1.000
19:8548093:G:T	N404K	1.000
19:8548097:A:T	I403N	1.000
19:8548105:C:A	Q400H	1.000
19:8548105:C:G	Q400H	1.000
19:8548117:A:C	N396K	1.000
19:8548117:A:T	N396K	1.000
19:8548246:C:A	E391D	1.000
19:8548246:C:G	E391D	1.000
19:8548247:T:A	E391V	1.000

dbSNP variants (sampled 300 via entrez): RS1000027904 (19:8577646 T>A), RS1000108155 (19:8541719 G>A), RS1000134142 (19:8566850 T>C), RS1000156503 (19:8521761 TG>T), RS1000188677 (19:8520288 C>A), RS1000222917 (19:8562612 T>C), RS1000254225 (19:8562795 G>A,C), RS1000296426 (19:8536883 G>A,C), RS1000339078 (19:8552439 G>T), RS1000370478 (19:8552705 C>A,G), RS1000407666 (19:8520861 G>A), RS1000447707 (19:8558063 G>A), RS1000510070 (19:8547946 G>A), RS1000532081 (19:8573156 A>C), RS1000568881 (19:8557803 C>T)

Disease associations

OMIM: gene MIM:601480 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Disputed Evidence	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Disputed	AD

Mondo (1): nonsyndromic genetic hearing loss (MONDO:0019497)

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000175_8	Height	1.000000e-06
GCST004562_157	Waist circumference adjusted for body mass index	2.000000e-08
GCST004562_3	Waist circumference adjusted for body mass index	3.000000e-08
GCST004563_139	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	9.000000e-08
GCST004563_34	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	1.000000e-07
GCST004564_26	Waist circumference adjusted for BMI in active individuals	5.000000e-06
GCST007293_113	Body fat distribution (arm fat ratio)	3.000000e-06
GCST007293_38	Body fat distribution (arm fat ratio)	5.000000e-07
GCST007293_9	Body fat distribution (arm fat ratio)	7.000000e-10
GCST007294_125	Body fat distribution (trunk fat ratio)	1.000000e-36
GCST007294_4	Body fat distribution (trunk fat ratio)	8.000000e-46
GCST007295_172	Body fat distribution (leg fat ratio)	2.000000e-28
GCST007295_38	Body fat distribution (leg fat ratio)	2.000000e-33
GCST008163_464	Height	4.000000e-07
GCST008839_360	Height	9.000000e-11
GCST012226_152	Waist circumference adjusted for body mass index	3.000000e-15
GCST90002394_438	Monocyte percentage of white cells	4.000000e-10
GCST90020028_1528	Hip circumference adjusted for BMI	3.000000e-12
GCST90020029_13	Waist circumference adjusted for body mass index	8.000000e-14

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0008002	physical activity measurement
EFO:0004341	body fat distribution
EFO:0007989	monocyte percentage of leukocytes
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067061 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.98	Kd	105.3	nM	CHEMBL5653589
6.98	ED50	105.3	nM	CHEMBL5653589
5.35	Kd	4429	nM	CHEMBL3752910
5.35	ED50	4429	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148813: Binding affinity to human MYO1F incubated for 45 mins by Kinobead based pull down assay	kd	0.1053	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148813: Binding affinity to human MYO1F incubated for 45 mins by Kinobead based pull down assay	kd	4.4286	uM

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
hydroxyhydroquinone	decreases expression	1
sodium arsenite	increases expression	1
tetrathiomolybdate	increases expression	1
hydroquinone	decreases expression	1
abrine	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Decitabine	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Carcinogens	decreases expression	1
Glucose	decreases expression	1
Mutagens	decreases expression	1
Nickel	increases expression	1
Ozone	affects expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651855	Binding	Binding affinity to human MYO1F incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations