MYH13

Summary

MYH13 (myosin heavy chain 13, HGNC:7571) is a protein-coding gene on chromosome 17p13.1, encoding Myosin-13 (Q9UKX3). Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles.

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in muscle contraction. Predicted to act upstream of or within cellular response to starvation. Located in extracellular exosome.

Source: NCBI Gene 8735 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 362 total
• MANE Select transcript: NM_003802

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7571
Approved symbol	MYH13
Name	myosin heavy chain 13
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	MyHC-eo
Ensembl gene	ENSG00000006788
Ensembl biotype	protein_coding
OMIM	603487
Entrez	8735

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000252172, ENST00000418404, ENST00000621918

RefSeq mRNA: 1 — MANE Select: NM_003802 NM_003802

CCDS: CCDS45613

Canonical transcript exons

ENST00000252172 — 41 exons

Exon	Start	End
ENSE00000686436	10321532	10321708
ENSE00000686500	10324022	10324264
ENSE00000686547	10330387	10330523
ENSE00000686549	10332099	10332222
ENSE00000686553	10340150	10340237
ENSE00000686555	10340328	10340401
ENSE00000686558	10343800	10344109
ENSE00000686566	10346680	10346798
ENSE00000686571	10354680	10354783
ENSE00000686573	10354895	10354993
ENSE00000686574	10355084	10355147
ENSE00000686576	10359960	10360071
ENSE00000686666	10362360	10362503
ENSE00001124155	10364327	10364542
ENSE00001385574	10371209	10371259
ENSE00001427668	10372979	10373006
ENSE00001596685	10320153	10320243
ENSE00001601323	10360161	10360188
ENSE00001607538	10333074	10333191
ENSE00001620747	10303196	10303291
ENSE00001636064	10309234	10309437
ENSE00001694283	10309522	10309830
ENSE00001711856	10311103	10311227
ENSE00001714301	10357735	10357827
ENSE00001719902	10315899	10316025
ENSE00001734024	10311911	10312076
ENSE00001742307	10306939	10307064
ENSE00001766280	10312574	10312757
ENSE00001774815	10303394	10303498
ENSE00001789008	10315693	10315811
ENSE00001797395	10301569	10301703
ENSE00002338056	10318790	10319179
ENSE00002340953	10320351	10320496
ENSE00002348737	10306459	10306629
ENSE00002354358	10327866	10328121
ENSE00002374233	10362118	10362274
ENSE00002393353	10350556	10350694
ENSE00002401372	10345202	10345372
ENSE00002422090	10313158	10313354
ENSE00002422348	10345467	10345616
ENSE00002648270	10300865	10300965

Expression profiles

Bgee: expression breadth broad, 39 present calls, max score 80.76.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4304 / max 1050.6799, expressed in 11 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164559	1.4304	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.76	gold quality
triceps brachii	UBERON:0001509	78.91	gold quality
gluteal muscle	UBERON:0002000	78.59	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	77.66	silver quality
quadriceps femoris	UBERON:0001377	72.95	gold quality
vastus lateralis	UBERON:0001379	72.11	gold quality
diaphragm	UBERON:0001103	71.02	gold quality
skeletal muscle tissue	UBERON:0001134	70.03	gold quality
secondary oocyte	CL:0000655	67.79	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	66.67	gold quality
muscle tissue	UBERON:0002385	66.63	gold quality
tibialis anterior	UBERON:0001385	63.59	silver quality
upper arm skin	UBERON:0004263	60.18	gold quality
substantia nigra pars reticulata	UBERON:0001966	59.77	gold quality
myocardium	UBERON:0002349	58.59	gold quality
cerebellar vermis	UBERON:0004720	58.05	gold quality
hindlimb stylopod muscle	UBERON:0004252	57.12	gold quality
gingival epithelium	UBERON:0001949	56.89	gold quality
body of tongue	UBERON:0011876	56.81	gold quality
pancreatic ductal cell	CL:0002079	56.72	silver quality
decidua	UBERON:0002450	56.55	gold quality
body of stomach	UBERON:0001161	56.28	gold quality
gingiva	UBERON:0001828	55.91	gold quality
saphenous vein	UBERON:0007318	55.86	gold quality
muscle organ	UBERON:0001630	55.35	gold quality
pharyngeal mucosa	UBERON:0000355	55.28	gold quality
tendon of biceps brachii	UBERON:0008188	54.90	gold quality
nasal cavity epithelium	UBERON:0005384	54.85	gold quality
tongue	UBERON:0001723	54.70	gold quality
lateral nuclear group of thalamus	UBERON:0002736	54.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2A, MEF2D, MYOD1, NFATC1, PAX3, SP1, SP3, SP4, TEF, TFAP2A, YY1

Literature-anchored findings (GeneRIF, showing 3)

• phylogenic imlications in extraocular muscles (REVIEW) (PMID:12110653)
• Domain-mapping experiments indicated that muscle-type creatine kinase binds to the C-terminal domains of MyBPC1, which is also the binding site of myosin. (PMID:21426302)
• MYH13, a superfast myosin expressed in extraocular, laryngeal and syringeal muscles. (PMID:38160435)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Myh13	ENSMUSG00000060180
rattus_norvegicus	Myh13	ENSRNOG00000067378

Paralogs (44): 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), 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-13 — Q9UKX3 (reviewed: Q9UKX3)

Alternative names: Myosin heavy chain 13, Myosin heavy chain, skeletal muscle, extraocular, Myosin heavy chain, skeletal muscle, laryngeal, Superfast myosin

All UniProt accessions (1): Q9UKX3

UniProt curated annotations — full annotation on UniProt →

Function. Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles.

Subunit / interactions. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).

Subcellular location. Cytoplasm. Myofibril.

Tissue specificity. Specifically expressed in extraocular and laryngeal muscles.

Domain organisation. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). The head-like domain S1 exhibits a much faster ATP-induced detachment from actin, and ADP affinity is more than 3-fold weaker than other myosins.

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

RefSeq proteins (1): NP_003793* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002928	Myosin_tail	Domain
IPR004009	SH3_Myosin	Domain
IPR008989	Myosin_S1_N	Homologous_superfamily
IPR014751	XRCC4-like_C	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR042702	Myh13_MYSc	Domain

Pfam: PF00063, PF01576, PF02736

UniProt features (20 total): sequence variant 5, sequence conflict 4, domain 3, region of interest 3, chain 1, modified residue 1, coiled-coil region 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKX3-F1	73.57	0.10

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): 179–186

Post-translational modifications (1): 130

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GCANCTGNY_MYOD_Q6, KEGG_TIGHT_JUNCTION, TGACCTY_ERR1_Q2, CAGCTG_AP4_Q5, KEGG_VIRAL_MYOCARDITIS, GOBP_MUSCLE_CONTRACTION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, TCF11_01, LYF1_01, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOMF_ACTIN_BINDING, GOBP_MUSCLE_SYSTEM_PROCESS, WHN_B, GOBP_RESPONSE_TO_STARVATION

GO Biological Process (2): muscle contraction (GO:0006936), cellular response to starvation (GO:0009267)

GO Molecular Function (7): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779)

GO Cellular Component (7): cytoplasm (GO:0005737), muscle myosin complex (GO:0005859), myosin II complex (GO:0016460), myofibril (GO:0030016), myosin filament (GO:0032982), extracellular exosome (GO:0070062), myosin complex (GO:0016459)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
contractile muscle fiber	2
myosin complex	2
muscle system process	1
cellular response to nutrient levels	1
cellular response to stress	1
response to starvation	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	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
cytoskeletal protein binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
myosin II complex	1
supramolecular fiber	1
extracellular vesicle	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

1558 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYH13	MUTYH	Q9UIF7	649
MYH13	ADPRM	Q3LIE5	603
MYH13	A0A2U3TZT1	A0A2U3TZT1	453
MYH13	SLC26A8	Q96RN1	440
MYH13	TMEM200A	Q86VY9	439
MYH13	METTL21C	Q5VZV1	435
MYH13	MPHOSPH6	Q99547	429
MYH13	CFTR	P13569	424
MYH13	TMEM220	Q6QAJ8	406
MYH13	TNNI2	P48788	406
MYH13	RPH3AL	Q9UNE2	400
MYH13	KIF13B	Q9NQT8	395
MYH13	TNNT3	P45378	391
MYH13	TNNT1	P13805	390
MYH13	TNNI1	P19237	388

IntAct

26 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
YWHAZ	HSPB1	psi-mi:“MI:0914”(association)	0.680
YWHAZ	LMNA	psi-mi:“MI:0914”(association)	0.560
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
Myh3	RPL10	psi-mi:“MI:0914”(association)	0.350
MYH13	C1orf226	psi-mi:“MI:0914”(association)	0.350
EZR	MACROD2	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
CFTR	MYH7B	psi-mi:“MI:0914”(association)	0.350
RSPH6A	ATP2A1	psi-mi:“MI:0914”(association)	0.350
LZTR1	CKM	psi-mi:“MI:0914”(association)	0.350
DNAJC6	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
LATS1	ATP2A1	psi-mi:“MI:0914”(association)	0.350
TSPAN33	ATP2A1	psi-mi:“MI:0914”(association)	0.350
LACTB2	CKM	psi-mi:“MI:0914”(association)	0.350
SF3B1	FAM83G	psi-mi:“MI:0914”(association)	0.350
MYH13	PSTPIP1	psi-mi:“MI:0915”(physical association)	0.000
LSM7	MYH13	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (54): LYST (Affinity Capture-MS), GOLGA2 (Affinity Capture-MS), HSF1 (Affinity Capture-MS), ITGB4 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), RBM4 (Affinity Capture-MS), SVIL (Affinity Capture-MS), MKNK1 (Affinity Capture-MS), UBE2M (Affinity Capture-MS), NOLC1 (Affinity Capture-MS), KIAA0355 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), ATP5S (Affinity Capture-MS), NIN (Affinity Capture-MS), CCDC174 (Affinity Capture-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: A2AQP0, A7E2Y1, F1PT61, F4I507, F4I5Q6, F4IVR7, G3UW82, K7U9N8, O08638, O14157, O94477, P02563, P02564, P02565, P02566, P02567, P04461, P05659, P05661, P08799, P08964, P10587, P11055, P12844, P12845, P12847, P12882, P12883, P13533, P13535, P13538, P13539, P13540, P13541, P13542, P14105, P19524, P21271, P24733, P32492

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	329
Likely benign	15
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

4742 predictions. Top by Δscore:

Variant	Effect	Δscore
17:10301567:A:AT	donor_loss	1.0000
17:10301568:C:A	donor_loss	1.0000
17:10301568:CCTGG:C	donor_gain	1.0000
17:10301704:C:A	acceptor_loss	1.0000
17:10301705:T:A	acceptor_loss	1.0000
17:10303184:T:TA	donor_gain	1.0000
17:10303194:ACCG:A	donor_gain	1.0000
17:10303195:CCGC:C	donor_gain	1.0000
17:10303391:TAC:T	donor_loss	1.0000
17:10303393:C:CT	donor_loss	1.0000
17:10303494:CGCAC:C	acceptor_gain	1.0000
17:10303495:GCAC:G	acceptor_gain	1.0000
17:10303496:CAC:C	acceptor_gain	1.0000
17:10303496:CACC:C	acceptor_gain	1.0000
17:10303497:ACC:A	acceptor_loss	1.0000
17:10303498:CCT:C	acceptor_loss	1.0000
17:10303499:C:CA	acceptor_loss	1.0000
17:10303500:T:A	acceptor_loss	1.0000
17:10303503:G:C	acceptor_gain	1.0000
17:10303508:A:C	acceptor_gain	1.0000
17:10306937:A:AC	donor_gain	1.0000
17:10306937:ACAT:A	donor_gain	1.0000
17:10306938:C:CC	donor_gain	1.0000
17:10306938:CAT:C	donor_gain	1.0000
17:10306938:CATC:C	donor_gain	1.0000
17:10306940:T:TA	donor_gain	1.0000
17:10309230:GCAC:G	donor_loss	1.0000
17:10309233:C:CA	donor_loss	1.0000
17:10309433:GAGTC:G	acceptor_gain	1.0000
17:10309434:AGTC:A	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000039165 (17:10370621 T>C), RS1000049788 (17:10366327 A>C), RS1000104579 (17:10351797 C>T), RS1000143635 (17:10313455 T>C), RS1000179749 (17:10324451 C>T), RS1000188202 (17:10353748 T>C), RS1000224354 (17:10343013 C>A), RS1000231713 (17:10303732 T>C), RS1000259330 (17:10360169 G>T), RS1000286870 (17:10310821 T>C), RS1000296225 (17:10342835 A>T), RS1000343507 (17:10310580 G>A), RS1000349570 (17:10348013 C>A,G), RS1000351485 (17:10372125 A>C,T), RS1000390726 (17:10372554 A>G)

Disease associations

OMIM: gene MIM:603487 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004250_1	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	5.000000e-06
GCST005547_16	Major depressive disorder	4.000000e-06
GCST012245_3	Periodontitis (stage III/IV grade C)	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007965	response to combination chemotherapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation, increases expression	2
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1
Phenobarbital	increases expression	1

Clinical trials (associated diseases)

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