MYL7

Summary

MYL7 (myosin light chain 7, HGNC:21719) is a protein-coding gene on chromosome 7p13, encoding Myosin regulatory light chain 2, atrial isoform (Q01449).

Predicted to enable calcium ion binding activity. Predicted to be involved in cardiac muscle tissue development and heart contraction. Located in A band.

Source: NCBI Gene 58498 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 31 total
• Druggable target: yes
• MANE Select transcript: NM_021223

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21719
Approved symbol	MYL7
Name	myosin light chain 7
Location	7p13
Locus type	gene with protein product
Status	Approved
Aliases	MYLC2A, MYL2A
Ensembl gene	ENSG00000106631
Ensembl biotype	protein_coding
OMIM	613993
Entrez	58498

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 23 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000223364, ENST00000431007, ENST00000431289, ENST00000434895, ENST00000446581, ENST00000447951, ENST00000457314, ENST00000457910, ENST00000458240, ENST00000476118, ENST00000882993, ENST00000882994, ENST00000882995, ENST00000882996, ENST00000882997, ENST00000882998, ENST00000950329, ENST00000950330, ENST00000950331, ENST00000950332, ENST00000950333, ENST00000950334, ENST00000950335, ENST00000950336, ENST00000950337, ENST00000950338, ENST00000950339

RefSeq mRNA: 1 — MANE Select: NM_021223 NM_021223

CCDS: CCDS5478

Canonical transcript exons

ENST00000223364 — 7 exons

Exon	Start	End
ENSE00000680785	44139521	44139569
ENSE00001599692	44138864	44139022
ENSE00001668692	44141303	44141332
ENSE00003468806	44140712	44140787
ENSE00003500353	44140323	44140427
ENSE00003554081	44140961	44141074
ENSE00003688531	44139782	44139860

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 99.99.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 11.7051 / max 3712.2099, expressed in 149 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83852	11.5895	148
83849	0.0571	21
83850	0.0418	16
83853	0.0130	8
83851	0.0037	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	99.99	gold quality
cardiac atrium	UBERON:0002081	99.97	gold quality
right atrium auricular region	UBERON:0006631	99.97	gold quality
apex of heart	UBERON:0002098	99.93	gold quality
vena cava	UBERON:0004087	99.83	gold quality
myocardium	UBERON:0002349	99.67	gold quality
heart left ventricle	UBERON:0002084	99.41	gold quality
cardiac ventricle	UBERON:0002082	99.40	gold quality
heart right ventricle	UBERON:0002080	99.36	gold quality
left ventricle myocardium	UBERON:0006566	98.67	gold quality
heart	UBERON:0000948	96.43	gold quality
adenohypophysis	UBERON:0002196	87.41	gold quality
pituitary gland	UBERON:0000007	84.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.46	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.07	gold quality
cerebellar hemisphere	UBERON:0002245	77.42	gold quality
cerebellar cortex	UBERON:0002129	76.90	gold quality
right frontal lobe	UBERON:0002810	76.25	gold quality
triceps brachii	UBERON:0001509	76.01	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	75.50	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	74.90	gold quality
gluteal muscle	UBERON:0002000	74.79	gold quality
cerebellum	UBERON:0002037	74.58	gold quality
tibial artery	UBERON:0007610	74.45	gold quality
popliteal artery	UBERON:0002250	74.44	gold quality
hypothalamus	UBERON:0001898	74.23	gold quality
cingulate cortex	UBERON:0003027	73.70	gold quality
aorta	UBERON:0000947	73.58	gold quality
anterior cingulate cortex	UBERON:0009835	73.38	gold quality
ascending aorta	UBERON:0001496	73.32	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	10.34
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HEY2, IRX4, JARID2, NR2F2, PPARA, TBX5

Literature-anchored findings (GeneRIF, showing 2)

• Nonmuscle Myosin Type IIA has distinct enzymatic properties that may be of importance in carrying out its cellular functions (PMID:12847096)
• Dominant-negative effect of NMMHC-IIA is involved in the formation of inclusion bodies in Fechtner syndrome. (PMID:18718080)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	myl7	ENSDARG00000019096
mus_musculus	Myl7	ENSMUSG00000020469
rattus_norvegicus	Myl7	ENSRNOG00000014409
caenorhabditis_elegans		WBGENE00003369
caenorhabditis_elegans		WBGENE00003370

Paralogs (7): MYL9 (ENSG00000101335), MYL12A (ENSG00000101608), MYL10 (ENSG00000106436), MYL2 (ENSG00000111245), MYL12B (ENSG00000118680), MYL11 (ENSG00000180209), MYL5 (ENSG00000215375)

Protein

Protein identifiers

Myosin regulatory light chain 2, atrial isoform — Q01449 (reviewed: Q01449)

Alternative names: Myosin regulatory light chain 7

All UniProt accessions (8): Q01449, C9JEG4, F8WD94, H7BZE4, H7C1B1, H7C243, H7C3E3, H7C482

UniProt curated annotations — full annotation on UniProt →

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

Tissue specificity. Predominantly expressed in adult atrial muscle.

Miscellaneous. This chain binds calcium.

RefSeq proteins (1): NP_067046* (*=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: PF13202, PF13833

UniProt features (12 total): binding site 4, modified residue 3, domain 3, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01449-F1	83.34	0.55

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): 45; 47; 49; 56

Post-translational modifications (3): 22, 23, 2

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: 72 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, KEGG_TIGHT_JUNCTION, MODULE_329, GNF2_MYL3, SRF_Q5_01, SRF_C, GATA3_01, SANSOM_APC_TARGETS_UP, REACTOME_SMOOTH_MUSCLE_CONTRACTION, GOBP_HEART_PROCESS, chr7p13, GOCC_NEURON_PROJECTION

GO Biological Process (2): cardiac muscle tissue development (GO:0048738), heart contraction (GO:0060047)

GO Molecular Function (3): calcium ion binding (GO:0005509), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): cytoplasm (GO:0005737), cytosol (GO:0005829), myosin complex (GO:0016459), myofibril (GO:0030016), A band (GO:0031672), dendritic spine (GO:0043197)

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	3
heart development	1
striated muscle tissue development	1
heart process	1
blood circulation	1
metal ion binding	1
binding	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1
actin cytoskeleton	1
protein-containing complex	1
contractile muscle fiber	1
sarcomere	1
dendrite	1
neuron spine	1
postsynapse	1

Protein interactions and networks

STRING

2179 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYL7	MYLK3	Q32MK0	825
MYL7	NKX2-5	P52952	804
MYL7	TNNT2	P45379	778
MYL7	MYH6	P13533	753
MYL7	MYH7	P12883	727
MYL7	MYL4	P11783	718
MYL7	ACTC1	P04270	717
MYL7	TNNI3	P19429	708
MYL7	TNNI1	P19237	707
MYL7	NPPA	P01160	657
MYL7	CASQ2	O14958	656
MYL7	TBX5	Q99593	638
MYL7	MYH7B	A7E2Y1	627
MYL7	GATA4	P43694	622
MYL7	HAND2	P61296	619

IntAct

22 interactions, top by confidence:

A	B	Type	Score
MYL7	TOX4	psi-mi:“MI:0915”(physical association)	0.560
TOX4	MYL7	psi-mi:“MI:0915”(physical association)	0.560
SUOX	MYL7	psi-mi:“MI:0915”(physical association)	0.560
MYL7	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
POU6F2	MYL7	psi-mi:“MI:0915”(physical association)	0.560
MYL7	PSORS1C2	psi-mi:“MI:0915”(physical association)	0.560
PPM1B	MYL7	psi-mi:“MI:0915”(physical association)	0.560
MCCD1	MYL7	psi-mi:“MI:0915”(physical association)	0.560
MYL7	MEOX2	psi-mi:“MI:0915”(physical association)	0.000
MYL7	POU6F2	psi-mi:“MI:0915”(physical association)	0.000
PSORS1C2	MYL7	psi-mi:“MI:0915”(physical association)	0.000
MYL7	PPM1B	psi-mi:“MI:0915”(physical association)	0.000
MYL7	MCCD1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): MYL7 (Two-hybrid), MYL7 (Two-hybrid), MYL7 (Two-hybrid), PPM1B (Two-hybrid), SUOX (Two-hybrid), MCCD1 (Two-hybrid), PSORS1C2 (Two-hybrid), MYL7 (Affinity Capture-MS), MYL7 (Affinity Capture-MS), MYL7 (Positive Genetic)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1244 predictions. Top by Δscore:

Variant	Effect	Δscore
7:44139776:A:AC	donor_gain	1.0000
7:44139776:ACTT:A	donor_loss	1.0000
7:44139777:C:CC	donor_gain	1.0000
7:44139777:CT:C	donor_loss	1.0000
7:44139778:TTACT:T	donor_loss	1.0000
7:44139780:A:AC	donor_gain	1.0000
7:44139780:A:T	donor_loss	1.0000
7:44139780:ACT:A	donor_gain	1.0000
7:44139781:C:CT	donor_gain	1.0000
7:44139781:CT:C	donor_gain	1.0000
7:44139781:CTC:C	donor_gain	1.0000
7:44139781:CTCA:C	donor_gain	1.0000
7:44139781:CTCAT:C	donor_gain	1.0000
7:44139784:AT:A	donor_gain	1.0000
7:44139859:CC:C	acceptor_gain	1.0000
7:44139860:CC:C	acceptor_gain	1.0000
7:44139861:C:CG	acceptor_loss	1.0000
7:44139862:T:C	acceptor_loss	1.0000
7:44140708:GCAC:G	donor_loss	1.0000
7:44140709:CA:C	donor_loss	1.0000
7:44140710:A:AC	donor_gain	1.0000
7:44140710:A:AT	donor_loss	1.0000
7:44140710:AC:A	donor_gain	1.0000
7:44140711:C:CC	donor_gain	1.0000
7:44140711:C:CT	donor_loss	1.0000
7:44140711:CC:C	donor_gain	1.0000
7:44140711:CCCAG:C	donor_gain	1.0000
7:44140730:C:CA	donor_gain	1.0000
7:44139019:CCAC:C	acceptor_gain	0.9900
7:44139020:CAC:C	acceptor_gain	0.9900

AlphaMissense

1172 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:44140349:A:G	L91P	0.999
7:44140349:A:T	L91H	0.999
7:44140360:G:C	F87L	0.999
7:44140360:G:T	F87L	0.999
7:44140362:A:G	F87L	0.999
7:44140735:A:G	L57P	0.999
7:44140750:A:T	I52N	0.999
7:44140782:G:C	F41L	0.999
7:44140782:G:T	F41L	0.999
7:44140784:A:G	F41L	0.999
7:44140964:T:A	K38N	0.999
7:44140964:T:G	K38N	0.999
7:44140343:A:G	L93P	0.998
7:44140351:G:C	F90L	0.998
7:44140351:G:T	F90L	0.998
7:44140352:A:G	F90S	0.998
7:44140353:A:G	F90L	0.998
7:44140361:A:G	F87S	0.998
7:44140750:A:C	I52S	0.998
7:44140771:T:G	D45A	0.998
7:44140772:C:G	D45H	0.998
7:44140783:A:G	F41S	0.998
7:44140337:C:T	G95E	0.997
7:44140350:G:A	L91F	0.997
7:44140361:A:C	F87C	0.997
7:44140363:G:C	N86K	0.997
7:44140363:G:T	N86K	0.997
7:44140735:A:T	L57Q	0.997
7:44140738:T:C	D56G	0.997
7:44140750:A:G	I52T	0.997

dbSNP variants (sampled 300 via entrez): RS1000570025 (7:44139921 G>A), RS1000627529 (7:44140847 G>A,C,T), RS1001330505 (7:44138773 G>A,T), RS1002572636 (7:44142591 A>T), RS1002800652 (7:44142421 T>C,G), RS1003588467 (7:44138413 G>A), RS1003614103 (7:44143076 C>G), RS1003925609 (7:44141986 C>T), RS1005195750 (7:44141721 G>T), RS1005379884 (7:44140873 G>A), RS1005634620 (7:44141992 C>T), RS1006385785 (7:44142362 G>A,C), RS1007561929 (7:44140756 C>G,T), RS1007945125 (7:44140525 G>T), RS1008384 (7:44139027 A>C,G,T)

Disease associations

OMIM: gene MIM:613993 | 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
GCST008363_58	Offspring birth weight	4.000000e-07
GCST010118_147	Type 2 diabetes	8.000000e-11
GCST011587_10	Fasting blood glucose	3.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3831286 (PROTEIN COMPLEX)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	increases expression, affects expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	affects expression	1
butyraldehyde	increases expression	1
ML 7	decreases reaction, increases phosphorylation, decreases phosphorylation	1
Y 27632	decreases reaction, increases phosphorylation, decreases phosphorylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Wortmannin	decreases reaction, increases phosphorylation, decreases phosphorylation	1
Decitabine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	increases expression, affects cotreatment	1
Carbamazepine	affects expression	1
Copper	affects cotreatment, decreases expression	1
Cytarabine	decreases expression	1
Phenylephrine	decreases reaction, increases phosphorylation	1
Smoke	increases expression	1
Testosterone	affects cotreatment, increases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Asbestos, Serpentine	decreases expression	1
Asbestos, Crocidolite	increases expression	1

Clinical trials (associated diseases)

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