MYL5

Summary

MYL5 (myosin light chain 5, HGNC:7586) is a protein-coding gene on chromosome 4p16.3, encoding Myosin light chain 5 (Q02045).

This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia.

Source: NCBI Gene 4636 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_002477

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7586
Approved symbol	MYL5
Name	myosin light chain 5
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000215375
Ensembl biotype	protein_coding
OMIM	160782
Entrez	4636

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000400159, ENST00000502720, ENST00000503300, ENST00000503612, ENST00000505477, ENST00000506838, ENST00000507804, ENST00000511290, ENST00000513662, ENST00000894694, ENST00000894695, ENST00000894696, ENST00000894697, ENST00000894698, ENST00000931855, ENST00000931856, ENST00000931857, ENST00000931858, ENST00000931859, ENST00000931860, ENST00000965683, ENST00000965684

RefSeq mRNA: 11 — MANE Select: NM_002477 NM_001363650, NM_001395441, NM_001395442, NM_001395443, NM_001395444, NM_001395445, NM_001395446, NM_001395447, NM_001395448, NM_001395449, NM_002477

CCDS: CCDS43197, CCDS87196

Canonical transcript exons

ENST00000400159 — 9 exons

Exon	Start	End
ENSE00001541808	677922	678029
ENSE00002029886	674542	674683
ENSE00002062334	676073	676209
ENSE00002064841	681893	682028
ENSE00003458550	678658	678765
ENSE00003499234	681092	681140
ENSE00003507142	680509	680587
ENSE00003595292	678958	679033
ENSE00003651130	679914	680018

Expression profiles

Bgee: expression breadth ubiquitous, 221 present calls, max score 95.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6352 / max 597.9846, expressed in 1735 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46507	3.7350	1507
46506	1.2976	860
46508	1.1189	654
46505	0.7635	525
46510	0.5452	40
46509	0.1498	15
46504	0.0171	5
46511	0.0080	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	95.07	gold quality
lower esophagus mucosa	UBERON:0035834	93.66	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.53	gold quality
metanephros cortex	UBERON:0010533	91.72	gold quality
transverse colon	UBERON:0001157	91.71	gold quality
skin of abdomen	UBERON:0001416	91.36	gold quality
right adrenal gland cortex	UBERON:0035827	91.17	gold quality
left adrenal gland cortex	UBERON:0035825	91.07	gold quality
left testis	UBERON:0004533	91.05	gold quality
right adrenal gland	UBERON:0001233	90.92	gold quality
right testis	UBERON:0004534	90.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.54	gold quality
left adrenal gland	UBERON:0001234	90.49	gold quality
skin of leg	UBERON:0001511	90.41	gold quality
apex of heart	UBERON:0002098	90.36	gold quality
sural nerve	UBERON:0015488	90.11	gold quality
right frontal lobe	UBERON:0002810	90.10	gold quality
small intestine	UBERON:0002108	90.07	gold quality
omental fat pad	UBERON:0010414	89.90	gold quality
peritoneum	UBERON:0002358	89.82	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.76	gold quality
right lobe of liver	UBERON:0001114	89.72	gold quality
esophagus mucosa	UBERON:0002469	89.51	gold quality
body of stomach	UBERON:0001161	89.48	gold quality
adipose tissue of abdominal region	UBERON:0007808	89.40	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.28	gold quality
left lobe of thyroid gland	UBERON:0001120	89.17	gold quality
cerebellar hemisphere	UBERON:0002245	89.03	gold quality
adrenal cortex	UBERON:0001235	89.01	gold quality
mucosa of stomach	UBERON:0001199	88.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	28.44
E-ANND-3	yes	2.99

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• MYL5 as a Novel Prognostic Marker is Associated with Immune Infiltrating in Breast Cancer: A Preliminary Study. (PMID:36846347)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
caenorhabditis_elegans		WBGENE00003369
caenorhabditis_elegans		WBGENE00003370

Paralogs (7): MYL9 (ENSG00000101335), MYL12A (ENSG00000101608), MYL10 (ENSG00000106436), MYL7 (ENSG00000106631), MYL2 (ENSG00000111245), MYL12B (ENSG00000118680), MYL11 (ENSG00000180209)

Protein

Protein identifiers

Myosin light chain 5 — Q02045 (reviewed: Q02045)

Alternative names: Myosin regulatory light chain 5, Superfast myosin regulatory light chain 2

All UniProt accessions (4): D6RA88, D6RB15, D6RJ91, Q02045

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Myosin is a hexamer of 2 heavy chains and 4 light chains.

Tissue specificity. Expressed in fetal skeletal muscle and retina.

Miscellaneous. This chain binds calcium.

Isoforms (2)

UniProt ID	Names	Canonical?
Q02045-1	1	yes
Q02045-2	2

RefSeq proteins (11): NP_001350579, NP_001382370, NP_001382371, NP_001382372, NP_001382373, NP_001382374, NP_001382375, NP_001382376, NP_001382377, NP_001382378, NP_002468* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR050403	Myosin_RLC	Family

Pfam: PF13499

UniProt features (11 total): binding site 4, domain 3, chain 1, sequence variant 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02045-F1	84.18	0.60

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 (4): 43; 45; 47; 54

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-445355	Smooth Muscle Contraction
R-HSA-397014	Muscle contraction

MSigDB gene sets: 71 (showing top): BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, KEGG_TIGHT_JUNCTION, GOBP_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_MUSCLE_CONTRACTION, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, chr4p16, GOBP_REGULATION_OF_SYSTEM_PROCESS, REACTOME_SMOOTH_MUSCLE_CONTRACTION, GOBP_MUSCLE_SYSTEM_PROCESS, GOMF_STRUCTURAL_CONSTITUENT_OF_MUSCLE, GOBP_REGULATION_OF_MUSCLE_SYSTEM_PROCESS, COWLING_MYCN_TARGETS, GOCC_MUSCLE_MYOSIN_COMPLEX, GOCC_MYOSIN_II_COMPLEX, KEGG_REGULATION_OF_ACTIN_CYTOSKELETON

GO Biological Process (1): regulation of muscle contraction (GO:0006937)

GO Molecular Function (3): calcium ion binding (GO:0005509), structural constituent of muscle (GO:0008307), metal ion binding (GO:0046872)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), muscle myosin complex (GO:0005859), myosin complex (GO:0016459)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
muscle contraction	1
regulation of muscle system process	1
metal ion binding	1
structural molecule activity	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1
myosin II complex	1
contractile muscle fiber	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

1435 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYL5	MYH6	P13533	688
MYL5	PDE6B	P35913	559
MYL5	MYBPC2	Q14324	547
MYL5	MYOM1	P52179	480
MYL5	ZAR1	Q86SH2	475
MYL5	ECT2	Q9H8V3	470
MYL5	SYMPK	Q92797	452
MYL5	C8orf82	Q6P1X6	433
MYL5	TARBP2	Q15633	430
MYL5	MYBPC3	Q14896	427
MYL5	YBX2	Q9Y2T7	424
MYL5	CPEB1	Q9BZB8	424
MYL5	FLNC	Q14315	396
MYL5	DGCR8	Q8WYQ5	378
MYL5	DICER1	Q9UPY3	369

IntAct

4 interactions, top by confidence:

A	B	Type	Score
MYL2	MYL5	psi-mi:“MI:0914”(association)	0.530
MYL2	AMY1A	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): MYL5 (Affinity Capture-MS), MYL5 (Protein-RNA), MYL5 (Affinity Capture-MS), MYL5 (Reconstituted Complex), APP (Reconstituted Complex)

ESM2 similar proteins: A4IF97, B7SNI3, F1SSF9, O14950, O93409, P02608, P02609, P02610, P02611, P02612, P04112, P04113, P04466, P05944, P05963, P07461, P08051, P08052, P08733, P10916, P13543, P13832, P13833, P15845, P18666, P19105, P19625, P19626, P24032, P24732, P24844, P29269, P40423, P41691, P51667, P97457, Q01449, Q02045, Q09510, Q0P571

Diamond homologs: A2WN93, A2WNH1, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4IF97, A4UHC0, A8CEP3, A8I1Q0, B7SNI3, F1SSF9, O14950, O93409, O94739, P02597, P02598, P02608, P02609, P02610, P02611, P02612, P02613, P04112, P04113, P04353, P04464, P04466, P05419, P05944, P05963, P07461, P08051, P08052, P08733, P0DH95, P0DH96, P10916, P11120, P13543

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1513 predictions. Top by Δscore:

Variant	Effect	Δscore
4:673910:A:AC	donor_gain	1.0000
4:673911:C:CC	donor_gain	1.0000
4:678765:GGTGA:G	donor_loss	1.0000
4:678766:GTGAG:G	donor_loss	1.0000
4:678954:CCAGG:C	acceptor_loss	1.0000
4:678955:CAGGC:C	acceptor_loss	1.0000
4:679901:AT:A	acceptor_gain	1.0000
4:679902:T:G	acceptor_gain	1.0000
4:679902:T:TA	acceptor_gain	1.0000
4:679912:A:AG	acceptor_gain	1.0000
4:679913:G:GG	acceptor_gain	1.0000
4:679913:GGC:G	acceptor_gain	1.0000
4:679913:GGCAA:G	acceptor_gain	1.0000
4:680012:C:G	donor_gain	1.0000
4:680014:GAGCG:G	donor_gain	1.0000
4:680016:GCG:G	donor_gain	1.0000
4:680017:CGG:C	donor_loss	1.0000
4:680018:GGT:G	donor_loss	1.0000
4:680019:G:GC	donor_loss	1.0000
4:680019:G:GG	donor_gain	1.0000
4:680020:T:A	donor_loss	1.0000
4:680582:G:GT	donor_gain	1.0000
4:680583:GAGTA:G	donor_gain	1.0000
4:680585:GTA:G	donor_gain	1.0000
4:680588:G:GG	donor_gain	1.0000
4:681176:G:T	donor_gain	1.0000
4:678596:G:A	acceptor_gain	0.9900
4:678653:CGCA:C	acceptor_loss	0.9900
4:678655:CA:C	acceptor_loss	0.9900
4:678656:A:AG	acceptor_gain	0.9900

AlphaMissense

1168 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:678961:T:C	F39L	1.000
4:678963:C:A	F39L	1.000
4:678963:C:G	F39L	1.000
4:678762:G:C	K36N	0.999
4:678762:G:T	K36N	0.999
4:678958:G:C	A38P	0.999
4:678962:T:C	F39S	0.999
4:678973:G:C	D43H	0.999
4:678974:A:C	D43A	0.999
4:678995:T:A	I50N	0.999
4:679010:T:C	L55P	0.999
4:679979:T:C	F85L	0.999
4:679981:C:A	F85L	0.999
4:679981:C:G	F85L	0.999
4:679992:T:C	L89P	0.999
4:678974:A:T	D43V	0.998
4:678975:T:A	D43E	0.998
4:678975:T:G	D43E	0.998
4:679007:A:C	D54A	0.998
4:679980:T:C	F85S	0.998
4:679980:T:G	F85C	0.998
4:678724:T:C	F24L	0.997
4:678726:C:A	F24L	0.997
4:678726:C:G	F24L	0.997
4:678749:T:A	I32N	0.997
4:678758:T:C	F35S	0.997
4:678961:T:A	F39I	0.997
4:678962:T:G	F39C	0.997
4:678968:T:C	L41P	0.997
4:678974:A:G	D43G	0.997

dbSNP variants (sampled 300 via entrez): RS1000226214 (4:676383 C>A,T), RS1001105378 (4:679599 G>A), RS1001208988 (4:677864 C>G,T), RS1001333124 (4:680872 T>C), RS1001385348 (4:681041 G>A,C,T), RS1001512894 (4:673541 A>G), RS1001558060 (4:679846 G>C,T), RS1001610147 (4:672978 G>C), RS1001613970 (4:677483 C>A), RS1001844376 (4:676661 G>A,T), RS1002060520 (4:677361 G>C), RS1002087375 (4:681574 C>G), RS1002173072 (4:673763 C>A), RS10023220 (4:680478 C>T), RS1002450535 (4:675821 G>A,T)

Disease associations

OMIM: gene MIM:160782 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	5
Benzo(a)pyrene	decreases expression, decreases methylation, affects methylation, affects expression	4
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bis(tri-n-butyltin)oxide	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
tributyltin	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
ochratoxin A	decreases expression	1
benzo(e)pyrene	decreases methylation	1
butylbenzyl phthalate	decreases expression	1
ferrous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
methylmercury II	affects expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	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, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzene	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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