MYO3B

Summary

MYO3B (myosin IIIB, HGNC:15576) is a protein-coding gene on chromosome 2q31.1, encoding Myosin-IIIb (Q8WXR4). Probable actin-based motor with a protein kinase activity.

This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 140469 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 242 total
• Druggable target: yes — 10 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_138995

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15576
Approved symbol	MYO3B
Name	myosin IIIB
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000071909
Ensembl biotype	protein_coding
OMIM	610040
Entrez	140469

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000317935, ENST00000408978, ENST00000409044, ENST00000409940, ENST00000438642, ENST00000442690, ENST00000469359, ENST00000484338, ENST00000602629

RefSeq mRNA: 2 — MANE Select: NM_138995 NM_001083615, NM_138995

CCDS: CCDS42773, CCDS46446

Canonical transcript exons

ENST00000408978 — 35 exons

Exon	Start	End
ENSE00003461254	170652108	170652154
ENSE00003462407	170463368	170463445
ENSE00003464458	170466506	170466711
ENSE00003465637	170405545	170405633
ENSE00003482570	170498592	170498703
ENSE00003488673	170199208	170199391
ENSE00003501855	170391520	170391618
ENSE00003532616	170519438	170519540
ENSE00003535226	170214379	170214483
ENSE00003541398	170514921	170515022
ENSE00003547606	170400188	170400314
ENSE00003547907	170404247	170404400
ENSE00003568264	170543892	170543988
ENSE00003577962	170382016	170382112
ENSE00003587339	170235991	170236136
ENSE00003607416	170217319	170217395
ENSE00003611378	170369222	170369377
ENSE00003615811	170542906	170542966
ENSE00003623430	170392381	170392495
ENSE00003623551	170335385	170335450
ENSE00003624017	170401481	170401691
ENSE00003625172	170383710	170383814
ENSE00003626275	170214729	170214828
ENSE00003627615	170501785	170501865
ENSE00003630038	170386189	170386272
ENSE00003649644	170651628	170651734
ENSE00003666624	170200150	170200284
ENSE00003679030	170387106	170387308
ENSE00003681211	170383073	170383189
ENSE00003681431	170407715	170407844
ENSE00003682300	170443967	170444046
ENSE00003693492	170402848	170402995
ENSE00003789808	170499646	170499808
ENSE00003900463	170652983	170655167
ENSE00003901841	170178147	170178289

Expression profiles

Bgee: expression breadth broad, 81 present calls, max score 81.11.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5806 / max 290.7763, expressed in 109 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23593	0.3881	41
23594	0.1615	71
23592	0.0310	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	81.11	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.51	gold quality
corpus epididymis	UBERON:0004359	77.59	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.70	gold quality
oocyte	CL:0000023	69.81	silver quality
secondary oocyte	CL:0000655	69.23	gold quality
metanephros cortex	UBERON:0010533	64.65	gold quality
adult mammalian kidney	UBERON:0000082	64.43	gold quality
renal medulla	UBERON:0000362	63.88	gold quality
cauda epididymis	UBERON:0004360	62.57	gold quality
kidney	UBERON:0002113	60.84	gold quality
caput epididymis	UBERON:0004358	60.55	gold quality
metanephros	UBERON:0000081	57.46	gold quality
popliteal artery	UBERON:0002250	55.60	gold quality
tibial artery	UBERON:0007610	55.57	gold quality
cortex of kidney	UBERON:0001225	54.94	gold quality
monocyte	CL:0000576	54.75	gold quality
leukocyte	CL:0000738	54.70	gold quality
bone marrow cell	CL:0002092	54.56	silver quality
left lobe of thyroid gland	UBERON:0001120	52.16	gold quality
thyroid gland	UBERON:0002046	52.07	gold quality
medial globus pallidus	UBERON:0002477	51.64	gold quality
body of pancreas	UBERON:0001150	50.93	gold quality
testis	UBERON:0000473	50.23	gold quality
tendon of biceps brachii	UBERON:0008188	50.10	silver quality
pituitary gland	UBERON:0000007	49.92	gold quality
right lobe of thyroid gland	UBERON:0001119	49.91	gold quality
pancreas	UBERON:0001264	49.76	gold quality
upper leg skin	UBERON:0004262	49.55	silver quality
tonsil	UBERON:0002372	49.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

80 targeting MYO3B, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-4516	99.61	67.78	3390

Literature-anchored findings (GeneRIF, showing 2)

• The structures of Myo3 in complex with Espin1 not only elucidate the mechanism of the binding, but also reveal a Myo3-induced release of Espin1 auto-inhibition mechanism. (PMID:26785147)
• MYO3A is more efficient than MYO3B at increasing formation and elongation of stable microvilli on the surface of cultured epithelial cells. (PMID:27582493)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo3b	ENSDARG00000006892
mus_musculus	Myo3b	ENSMUSG00000042064
rattus_norvegicus	Myo3b	ENSRNOG00000030022

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), 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), MYO1F (ENSG00000142347), 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

Myosin-IIIb — Q8WXR4 (reviewed: Q8WXR4)

All UniProt accessions (3): Q8WXR4, F5H2J1, H7C1M9

UniProt curated annotations — full annotation on UniProt →

Function. Probable actin-based motor with a protein kinase activity. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments.

Subunit / interactions. Interacts (via C-terminus) with ESPN. Interacts (via C-terminus) with ESPNL.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Stereocilium.

Tissue specificity. Expressed in retina, kidney and testis.

Similarity. In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q8WXR4-1	1, MYO3B.2	yes
Q8WXR4-2	2, MYO3B.0
Q8WXR4-3	3, MYO3B.1
Q8WXR4-4	4, MYO3B.3
Q8WXR4-5	5, MYO3B.4
Q8WXR4-6	6, MYO3B.5
Q8WXR4-7	7

RefSeq proteins (2): NP_001077084, NP_620482* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR000719	Prot_kinase_dom	Domain
IPR001609	Myosin_head_motor_dom-like	Domain
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036083	MYSc_Myo3	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR052409	Myosin-III_kinase_activity	Family

Pfam: PF00063, PF00069, PF00612

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (44 total): sequence variant 20, splice variant 5, domain 4, sequence conflict 4, region of interest 4, compositionally biased region 3, binding site 2, chain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXR4-F1	75.00	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): 156 (proton acceptor)

Ligand- & substrate-binding residues (2): 33–41; 56

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9662361	Sensory processing of sound by outer hair cells of the cochlea
R-HSA-9659379	Sensory processing of sound
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 146 (showing top): AGGAAGC_MIR5163P, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, CTCTAGA_MIR526C_MIR518F_MIR526A, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_EAR_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_FILOPODIUM_ASSEMBLY, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, BRN2_01, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY

GO Biological Process (6): visual perception (GO:0007601), sensory perception of sound (GO:0007605), regulation of actin filament length (GO:0030832), positive regulation of filopodium assembly (GO:0051491), cochlea morphogenesis (GO:0090103), protein phosphorylation (GO:0006468)

GO Molecular Function (11): microfilament motor activity (GO:0000146), actin binding (GO:0003779), protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (9): photoreceptor inner segment (GO:0001917), cytoplasm (GO:0005737), myosin complex (GO:0016459), stereocilium tip (GO:0032426), filopodium tip (GO:0032433), cytoskeleton (GO:0005856), stereocilium (GO:0032420), cell projection (GO:0042995), organelle (GO:0043226)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory processing of sound	2
Sensory Perception	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
protein kinase activity	2
sensory perception of light stimulus	1
sensory perception of mechanical stimulus	1
regulation of cellular component size	1
regulation of actin cytoskeleton organization	1
filopodium assembly	1
regulation of filopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
inner ear morphogenesis	1
embryonic morphogenesis	1
cochlea development	1
phosphorylation	1
protein modification process	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
cytoskeletal protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
intracellular anatomical structure	1
actin cytoskeleton	1
protein-containing complex	1
stereocilium	1
filopodium	1
intracellular membraneless organelle	1
stereocilium bundle	1
neuron projection	1
actin-based cell projection	1

Protein interactions and networks

STRING

2160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO3B	ESPNL	Q6ZVH7	708
MYO3B	MORN4	Q8NDC4	703
MYO3B	ESPN	B1AK53	673
MYO3B	OR4K17	Q8NGC6	575
MYO3B	OR3A3	P47888	511
MYO3B	SP5	Q6BEB4	506
MYO3B	WHRN	Q9P202	498
MYO3B	C2orf81	A6NN90	463
MYO3B	CCDC154	A6NI56	450
MYO3B	TWF2	Q6IBS0	445
MYO3B	STMP1	E0CX11	417
MYO3B	EPS8L2	Q9H6S3	414
MYO3B	DPH6	Q7L8W6	413
MYO3B	ZC3H12C	Q9C0D7	406
MYO3B	MYO18B	Q8IUG5	406

IntAct

14 interactions, top by confidence:

A	B	Type	Score
HSP90AB1	MYO3B	psi-mi:“MI:0915”(physical association)	0.560
ESR2		psi-mi:“MI:0914”(association)	0.350
MYO3B	CALU	psi-mi:“MI:0914”(association)	0.350
GRB2	MYO1C	psi-mi:“MI:0914”(association)	0.350
ATP6V1A		psi-mi:“MI:0914”(association)	0.350
MYL12B	EFCAB7	psi-mi:“MI:0914”(association)	0.350
TNNC1	MYO1B	psi-mi:“MI:0914”(association)	0.350
OPALIN	FAM171A2	psi-mi:“MI:0914”(association)	0.350
DHFR	FANCA	psi-mi:“MI:0914”(association)	0.350
ATF3	ILVBL	psi-mi:“MI:0914”(association)	0.350
CASP3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CTNNA1	ILVBL	psi-mi:“MI:0914”(association)	0.350
GATA2	ILVBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (52): MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), MYO3B (Affinity Capture-MS), CALU (Affinity Capture-MS), IKBKAP (Affinity Capture-MS), APOD (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS)

ESM2 similar proteins: A0MP03, A2AQP0, A5PF48, A7E2Y1, B0I1T2, D3ZJP6, E7F9L8, F1PRN2, F4IUG9, F4JM19, F8VQB6, O00159, O88329, O94832, P08799, P10568, P79114, P91443, P97479, Q01989, Q03479, Q0WPU1, Q13402, Q17LW0, Q17R14, Q1EG27, Q23978, Q23979, Q27966, Q29P71, Q5SUA5, Q5SYD0, Q5ZLA6, Q5ZMC2, Q622K8, Q63355, Q63357, Q6GPA1, Q6PIF6, Q8K3H5

Diamond homologs: A4K2M3, A4K2P5, A4K2Q5, A4K2S1, A4K2T0, A4K2W5, A4K2Y1, A8XJW8, B0LT89, B7ZR30, E1BK52, E9PTG8, F1LP90, F1NBT0, H2L099, O00506, O08815, O14047, O14305, O24527, O54748, O54988, O55092, O55098, O61122, O61125, O75914, O88643, O94804, O95819, P35465, P70218, P83510, P97820, Q08E52, Q0IHQ8, Q12851, Q13043, Q13153, Q13177

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	208
Likely benign	14
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

7513 predictions. Top by Δscore:

Variant	Effect	Δscore
2:170178287:GAT:G	donor_gain	1.0000
2:170178290:G:GG	donor_gain	1.0000
2:170198548:T:G	donor_gain	1.0000
2:170198620:G:GG	donor_gain	1.0000
2:170199390:GT:G	donor_gain	1.0000
2:170199392:G:GG	donor_gain	1.0000
2:170199556:T:G	donor_gain	1.0000
2:170214333:A:AG	acceptor_gain	1.0000
2:170214333:ACAT:A	acceptor_gain	1.0000
2:170214335:A:AG	acceptor_gain	1.0000
2:170214335:AT:A	acceptor_gain	1.0000
2:170214335:ATGT:A	acceptor_gain	1.0000
2:170214335:ATGTG:A	acceptor_gain	1.0000
2:170214336:T:G	acceptor_gain	1.0000
2:170214338:T:TA	acceptor_gain	1.0000
2:170214698:T:A	acceptor_gain	1.0000
2:170214701:T:A	acceptor_gain	1.0000
2:170214705:T:A	acceptor_gain	1.0000
2:170214708:T:TA	acceptor_gain	1.0000
2:170214808:GAGT:G	donor_gain	1.0000
2:170214811:T:G	donor_gain	1.0000
2:170217317:A:AG	acceptor_gain	1.0000
2:170217317:AG:A	acceptor_gain	1.0000
2:170217317:AGGT:A	acceptor_gain	1.0000
2:170217318:G:GT	acceptor_gain	1.0000
2:170217318:GG:G	acceptor_gain	1.0000
2:170217318:GGT:G	acceptor_gain	1.0000
2:170217318:GGTG:G	acceptor_gain	1.0000
2:170217318:GGTGT:G	acceptor_gain	1.0000
2:170217393:GAG:G	donor_gain	1.0000

AlphaMissense

8838 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:170214765:C:A	R155S	1.000
2:170214766:G:C	R155P	1.000
2:170214768:G:C	D156H	1.000
2:170214769:A:C	D156A	1.000
2:170214769:A:G	D156G	1.000
2:170214769:A:T	D156V	1.000
2:170214776:G:C	K158N	1.000
2:170214776:G:T	K158N	1.000
2:170214777:G:T	G159W	1.000
2:170214785:C:A	N161K	1.000
2:170214785:C:G	N161K	1.000
2:170214822:G:C	D174H	1.000
2:170214823:A:C	D174A	1.000
2:170214823:A:G	D174G	1.000
2:170214823:A:T	D174V	1.000
2:170214824:C:A	D174E	1.000
2:170214824:C:G	D174E	1.000
2:170217367:T:A	V192D	1.000
2:170217369:G:C	G193R	1.000
2:170217370:G:A	G193D	1.000
2:170217381:T:A	W197R	1.000
2:170217381:T:C	W197R	1.000
2:170217385:T:A	M198K	1.000
2:170217385:T:C	M198T	1.000
2:170217385:T:G	M198R	1.000
2:170236037:G:A	C217Y	1.000
2:170236038:T:G	C217W	1.000
2:170236039:G:C	D218H	1.000
2:170236039:G:T	D218Y	1.000
2:170236040:A:C	D218A	1.000

dbSNP variants (sampled 300 via entrez): RS1000004092 (2:170317727 T>C), RS1000004576 (2:170620909 G>A,C), RS1000010391 (2:170571385 C>T), RS1000011657 (2:170250600 G>A), RS1000017227 (2:170530871 A>G,T), RS1000019606 (2:170650403 G>A), RS1000036099 (2:170570437 A>G), RS1000040491 (2:170453379 C>T), RS1000045702 (2:170247157 A>G,T), RS1000046943 (2:170530532 C>G), RS1000064565 (2:170493746 C>A,G), RS1000064714 (2:170224476 C>A,T), RS1000081216 (2:170201438 G>T), RS1000085391 (2:170654337 G>A), RS1000089487 (2:170336094 G>A,T)

Disease associations

OMIM: gene MIM:610040 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST001525_24	Visceral fat	7.000000e-06
GCST001762_578	Obesity-related traits	2.000000e-06
GCST001762_672	Obesity-related traits	3.000000e-06
GCST002828_11	Urate levels in obese individuals	2.000000e-06
GCST003560_9	Coronary artery aneurysm in Kawasaki disease	3.000000e-06
GCST004862_177	Itch intensity from mosquito bite adjusted by bite size	9.000000e-06
GCST004865_66	Itch intensity from mosquito bite adjusted by bite size	7.000000e-07
GCST008163_113	Height	7.000000e-06
GCST011541_10	Tinnitus	6.000000e-07
GCST012038_2	Sleep duration (> 10 hours)	4.000000e-08
GCST012228_53	Waist-hip index	5.000000e-10
GCST012228_54	Waist-hip index	2.000000e-08
GCST012229_35	Hip index	5.000000e-08
GCST012229_36	Hip index	2.000000e-09
GCST012229_37	Hip index	5.000000e-08
GCST012230_254	Waist-to-hip ratio adjusted for BMI	5.000000e-10
GCST012230_255	Waist-to-hip ratio adjusted for BMI	2.000000e-08
GCST90020025_1711	Waist-to-hip ratio adjusted for BMI	2.000000e-09
GCST90020025_1712	Waist-to-hip ratio adjusted for BMI	2.000000e-10
GCST90020027_584	Waist-hip index	3.000000e-09
GCST90020027_585	Waist-hip index	2.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004730	hormone measurement
EFO:0005119	antioxidant measurement
EFO:0004531	urate measurement
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5654 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

10 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 194,869 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1336	SORAFENIB	4	86,060
CHEMBL288441	BOSUTINIB	4	12,255
CHEMBL502835	NINTEDANIB	4	8,545
CHEMBL535	SUNITINIB	4	79,020
CHEMBL223360	LINIFANIB	3	3,925
CHEMBL603469	LESTAURTINIB	3
CHEMBL1230609	FORETINIB	2	3,096
CHEMBL513909	BI-2536	2	895
CHEMBL1908397	KW-2449	1	622
CHEMBL574738	AST-487	1	451

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — NinaC subfamily

Binding affinities (BindingDB)

3 measured of 3 human assays (3 total across all organisms); most potent 3 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
Staurosporine	KD	1.7 nM
1-[4-[(4-ethyl-1-piperazinyl)methyl]-3-(trifluoromethyl)phenyl]-3-[4-[[6-(methylamino)-4-pyrimidinyl]oxy]phenyl]urea	KD	1400 nM
N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide	KD	3500 nM

ChEMBL bioactivities

27 potent at pChembl≥5 of 27 total, top 22 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.29	IC50	5.19	nM	STAUROSPORINE
8.19	IC50	6.4	nM	STAUROSPORINE
8.10	IC50	8.03	nM	STAUROSPORINE
7.09	Kd	81	nM	TAE-684
7.08	Kd	84	nM	AST-487
6.67	IC50	215	nM	CHEMBL5276374
6.53	Kd	294	nM	CHEMBL4576489
6.52	Kd	300	nM	STAUROSPORINE
6.48	Kd	328	nM	CHEMBL4465866
6.16	Kd	690	nM	FORETINIB
6.11	Kd	770	nM	LESTAURTINIB
6.00	IC50	1000	nM	TP-030-1
6.00	IC50	1000	nM	TP-030-2
6.00	IC50	1000	nM	TP-030n
5.68	Kd	2100	nM	CHEMBL1241674
5.64	Kd	2300	nM	BOSUTINIB
5.57	Kd	2700	nM	NINTEDANIB
5.50	Kd	3200	nM	LINIFANIB
5.46	Kd	3500	nM	BI-2536
5.35	Kd	4500	nM	SUNITINIB
5.22	Kd	6000	nM	KW-2449
5.15	Kd	7100	nM	SORAFENIB

PubChem BioAssay actives

24 with measured affinity, of 217 total; 16 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
(2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one	1715249: Inhibition of human MYO3B using MBP as substrate by [gamma-33P]-ATP assay	ic50	0.0052	uM
5-chloro-2-N-[2-methoxy-4-[4-(4-methylpiperazin-1-yl)piperidin-1-yl]phenyl]-4-N-(2-propan-2-ylsulfonylphenyl)pyrimidine-2,4-diamine	624817: Binding constant for MYO3B kinase domain	kd	0.0810	uM
1-[4-[(4-ethylpiperazin-1-yl)methyl]-3-(trifluoromethyl)phenyl]-3-[4-[6-(methylamino)pyrimidin-4-yl]oxyphenyl]urea	436032: Binding constant for MYO3B kinase domain	kd	0.0840	uM
(7S)-2-(3,5-dimethoxy-4-methylphenyl)-7-(1-prop-2-enoylpiperidin-4-yl)-4,5,6,7-tetrahydropyrazolo[1,5-a]pyrimidine-3-carboxamide	1948226: Inhibition of human MYO3b preincubated with compound for 1 hrs followed by ATP/33P-ATP addition and measured after 2 hrs by radioactive filter-binding assay	ic50	0.2150	uM
3-(2,2-difluoro-10,12-dimethyl-1-aza-3-azonia-2-boranuidatricyclo[7.3.0.03,7]dodeca-3,5,7,9,11-pentaen-4-yl)-N-[2-[2-[2-[2-[[(2S,3R,4R,6R)-3-methoxy-2-methyl-16-oxo-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-4-yl]-methylamino]ethoxy]ethoxy]ethoxy]ethyl]propanamide	1526254: Binding affinity to recombinant full-length N-terminal His-FLAG-GST-tagged MYO3B (unknown origin) (1 to 362 residues) expressed in baculovirus infected Sf9 insect cells incubated for 1 hr by TR-FRET assay	kd	0.2940	uM
3-(2,2-difluoro-10,12-dimethyl-1-aza-3-azonia-2-boranuidatricyclo[7.3.0.03,7]dodeca-3,5,7,9,11-pentaen-4-yl)-N-[2-[2-[2-[2-[[(2S,3R,4R,6R)-3-methoxy-2-methyl-16-oxo-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-4-yl]amino]ethoxy]ethoxy]ethoxy]ethyl]propanamide	1526254: Binding affinity to recombinant full-length N-terminal His-FLAG-GST-tagged MYO3B (unknown origin) (1 to 362 residues) expressed in baculovirus infected Sf9 insect cells incubated for 1 hr by TR-FRET assay	kd	0.3280	uM
1-N’-[3-fluoro-4-[6-methoxy-7-(3-morpholin-4-ylpropoxy)quinolin-4-yl]oxyphenyl]-1-N-(4-fluorophenyl)cyclopropane-1,1-dicarboxamide	624817: Binding constant for MYO3B kinase domain	kd	0.6900	uM
(15S,16S,18R)-16-hydroxy-16-(hydroxymethyl)-15-methyl-28-oxa-4,14,19-triazaoctacyclo[12.11.2.115,18.02,6.07,27.08,13.019,26.020,25]octacosa-1,6,8,10,12,20,22,24,26-nonaen-3-one	507640: Binding affinity to MYO3B	kd	0.7700	uM
2-(4-amino-1-propan-2-ylpyrazolo[3,4-d]pyrimidin-3-yl)-1H-indol-5-ol	624817: Binding constant for MYO3B kinase domain	kd	2.1000	uM
Bosutinib	624817: Binding constant for MYO3B kinase domain	kd	2.3000	uM
methyl 2-hydroxy-3-[N-[4-[methyl-[2-(4-methylpiperazin-1-yl)acetyl]amino]phenyl]-C-phenylcarbonimidoyl]-1H-indole-6-carboxylate	624817: Binding constant for MYO3B kinase domain	kd	2.7000	uM
1-[4-(3-amino-1H-indazol-4-yl)phenyl]-3-(2-fluoro-5-methylphenyl)urea	624817: Binding constant for MYO3B kinase domain	kd	3.2000	uM
4-[[(7R)-8-cyclopentyl-7-ethyl-5-methyl-6-oxo-7H-pteridin-2-yl]amino]-3-methoxy-N-(1-methylpiperidin-4-yl)benzamide	624817: Binding constant for MYO3B kinase domain	kd	3.5000	uM
Sunitinib	436032: Binding constant for MYO3B kinase domain	kd	4.5000	uM
[4-[(E)-2-(1H-indazol-3-yl)ethenyl]phenyl]-piperazin-1-ylmethanone	624817: Binding constant for MYO3B kinase domain	kd	6.0000	uM
Sorafenib	624817: Binding constant for MYO3B kinase domain	kd	7.1000	uM

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	6
trichostatin A	decreases expression, affects cotreatment	3
methylmercuric chloride	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Aflatoxin B1	increases methylation	2
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenite	decreases expression	1
vanadyl sulfate	decreases expression	1
avobenzone	increases 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, increases expression	1
clothianidin	increases expression	1
belinostat	increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	affects cotreatment, increases expression	1
Arbutin	decreases expression	1
Arsenic	affects methylation	1
Diethylhexyl Phthalate	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Folic Acid	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Teratogens	decreases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1
S-Nitrosoglutathione	increases expression	1

ChEMBL screening assays

129 unique, capped per target: 129 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1048291	Binding	Inhibition of MYO3B assessed as enzyme activity at 1 uM relative to untreated control	Selective inhibitors of the mutant B-Raf pathway: discovery of a potent and orally bioavailable aminoisoquinoline. — J Med Chem

Clinical trials (associated diseases)

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