MYL6B

Summary

MYL6B (myosin light chain 6B, HGNC:29823) is a protein-coding gene on chromosome 12q13.2, encoding Myosin light chain 6B (P14649). Regulatory light chain of myosin.

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 140465 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_002475

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29823
Approved symbol	MYL6B
Name	myosin light chain 6B
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	MLC1SA
Ensembl gene	ENSG00000196465
Ensembl biotype	protein_coding
OMIM	609930
Entrez	140465

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 28 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000405661, ENST00000548548, ENST00000548571, ENST00000549178, ENST00000549380, ENST00000550152, ENST00000550443, ENST00000550550, ENST00000551834, ENST00000552568, ENST00000553066, ENST00000695999, ENST00000696000, ENST00000696001, ENST00000696002, ENST00000873595, ENST00000873596, ENST00000873597, ENST00000873598, ENST00000873599, ENST00000912610, ENST00000912611, ENST00000912612, ENST00000912613, ENST00000912614, ENST00000912615, ENST00000912616, ENST00000912617, ENST00000912618, ENST00000912619, ENST00000912620, ENST00000912621, ENST00000912622, ENST00000912623, ENST00000912624, ENST00000944449

RefSeq mRNA: 2 — MANE Select: NM_002475 NM_001199629, NM_002475

CCDS: CCDS8905

Canonical transcript exons

ENST00000695999 — 8 exons

Exon	Start	End
ENSE00003470453	56157468	56157545
ENSE00003496260	56155419	56155592
ENSE00003524365	56157698	56157735
ENSE00003536454	56153873	56154092
ENSE00003585788	56154813	56154840
ENSE00003666078	56155055	56155198
ENSE00003965737	56152587	56152631
ENSE00003965743	56157882	56157982

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.2136 / max 595.1058, expressed in 1765 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126073	23.8120	1757
126074	3.5508	199
126072	1.4886	1068
126077	0.3623	203

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gluteal muscle	UBERON:0002000	99.84	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.63	gold quality
biceps brachii	UBERON:0001507	99.61	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.60	gold quality
diaphragm	UBERON:0001103	99.56	gold quality
ganglionic eminence	UBERON:0004023	99.23	gold quality
tibialis anterior	UBERON:0001385	99.19	gold quality
colonic epithelium	UBERON:0000397	99.18	gold quality
deltoid	UBERON:0001476	99.06	gold quality
skeletal muscle tissue	UBERON:0001134	99.05	gold quality
left testis	UBERON:0004533	99.01	gold quality
right testis	UBERON:0004534	98.91	gold quality
cortical plate	UBERON:0005343	98.87	gold quality
nucleus accumbens	UBERON:0001882	98.85	gold quality
vastus lateralis	UBERON:0001379	98.84	gold quality
quadriceps femoris	UBERON:0001377	98.80	gold quality
gastrocnemius	UBERON:0001388	98.78	gold quality
embryo	UBERON:0000922	98.70	gold quality
body of tongue	UBERON:0011876	98.69	gold quality
ventricular zone	UBERON:0003053	98.66	gold quality
caudate nucleus	UBERON:0001873	98.62	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.61	gold quality
putamen	UBERON:0001874	98.58	gold quality
muscle organ	UBERON:0001630	98.55	gold quality
prefrontal cortex	UBERON:0000451	98.54	gold quality
triceps brachii	UBERON:0001509	98.45	gold quality
muscle of leg	UBERON:0001383	98.38	gold quality
amygdala	UBERON:0001876	98.34	gold quality
right frontal lobe	UBERON:0002810	98.33	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.32	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	34.89
E-CURD-112	yes	19.78
E-ANND-3	yes	7.16
E-GEOD-125970	yes	5.50
E-MTAB-7303	no	440.91
E-HCAD-30	no	243.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting MYL6B, 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-510-3P	99.54	70.06	2965
HSA-MIR-744-5P	93.78	65.29	230

Literature-anchored findings (GeneRIF, showing 2)

• Only the first IQ motif of IQGAP1 interacts with MYL6B. The first and second IQ motifs of IQGAP1 interact with S100B in the presence of calcium ions. (PMID:18587628)
• our results demonstrate that MYL6B is a putative tumor driver gene in HCC which could promote the degradation of p53 by enhancing its’ MDM2-mediated ubiquitination. (PMID:29439719)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	myl6	ENSDARG00000008494
danio_rerio	zgc:153867	ENSDARG00000033738
mus_musculus	Myl6b	ENSMUSG00000039824
rattus_norvegicus	Myl6bl1	ENSRNOG00000003860
rattus_norvegicus	Myl6bl1	ENSRNOG00000028837
drosophila_melanogaster	Mlc-c	FBGN0004687
caenorhabditis_elegans		WBGENE00010554
caenorhabditis_elegans		WBGENE00011734

Paralogs (4): MYL6 (ENSG00000092841), MYL3 (ENSG00000160808), MYL1 (ENSG00000168530), MYL4 (ENSG00000198336)

Protein

Protein identifiers

Myosin light chain 6B — P14649 (reviewed: P14649)

Alternative names: Myosin light chain 1 slow-twitch muscle A isoform, Smooth muscle and nonmuscle myosin light chain alkali 6B

All UniProt accessions (6): A0A8Q3SI90, A0A8Q3SIC5, A0A8Q3SIF0, P14649, F8VSA2, F8W1I5

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory light chain of myosin. Does not bind calcium.

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

RefSeq proteins (2): NP_001186558, NP_002466* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR050230	CALM/Myosin/TropC-like	Family

UniProt features (21 total): helix 9, strand 5, domain 3, chain 1, turn 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

29 structures.

PDB	Method	Resolution (Å)
1W7J	X-RAY DIFFRACTION	2
1OE9	X-RAY DIFFRACTION	2.05
7PMD	ELECTRON MICROSCOPY	2.9
7PME	ELECTRON MICROSCOPY	2.9
1W7I	X-RAY DIFFRACTION	3
7PM6	ELECTRON MICROSCOPY	3
7PM5	ELECTRON MICROSCOPY	3.1
7PLU	ELECTRON MICROSCOPY	3.2
7PLY	ELECTRON MICROSCOPY	3.2
7PLZ	ELECTRON MICROSCOPY	3.2
7PLT	ELECTRON MICROSCOPY	3.3
7PMG	ELECTRON MICROSCOPY	3.3
7PMI	ELECTRON MICROSCOPY	3.3
7PML	ELECTRON MICROSCOPY	3.3
7PMF	ELECTRON MICROSCOPY	3.4
7PMH	ELECTRON MICROSCOPY	3.4
7PMJ	ELECTRON MICROSCOPY	3.4
7PLV	ELECTRON MICROSCOPY	3.5
7PLW	ELECTRON MICROSCOPY	3.5
7PM1	ELECTRON MICROSCOPY	3.5
7PM7	ELECTRON MICROSCOPY	3.5
7PM8	ELECTRON MICROSCOPY	3.5
7PLX	ELECTRON MICROSCOPY	3.6
7PM0	ELECTRON MICROSCOPY	3.6
7PM2	ELECTRON MICROSCOPY	3.6
7PMA	ELECTRON MICROSCOPY	3.6
7PMB	ELECTRON MICROSCOPY	3.6
7PM9	ELECTRON MICROSCOPY	3.7
7PMC	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14649-F1	82.98	0.69

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: 180 (showing top): GOBP_MUSCLE_TISSUE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, AP4_Q6, CAGCTG_AP4_Q5, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MYOD_01, GOBP_MUSCLE_CONTRACTION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, CAFFAREL_RESPONSE_TO_THC_24HR_5_UP, ARGGGTTAA_UNKNOWN, TGANTCA_AP1_C, GOBP_ACTIN_MEDIATED_CELL_CONTRACTION

GO Biological Process (3): muscle contraction (GO:0006936), skeletal muscle tissue development (GO:0007519), muscle filament sliding (GO:0030049)

GO Molecular Function (4): cytoskeletal motor activity (GO:0003774), calcium ion binding (GO:0005509), structural constituent of muscle (GO:0008307), protein binding (GO:0005515)

GO Cellular Component (7): cytosol (GO:0005829), muscle myosin complex (GO:0005859), myosin complex (GO:0016459), myosin II complex (GO:0016460), unconventional myosin complex (GO:0016461), extracellular exosome (GO:0070062), organelle (GO:0043226)

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
myosin complex	2
muscle system process	1
striated muscle tissue development	1
skeletal muscle organ development	1
muscle contraction	1
actin-myosin filament sliding	1
molecular_function	1
metal ion binding	1
structural molecule activity	1
binding	1
cytoplasm	1
myosin II complex	1
contractile muscle fiber	1
actin cytoskeleton	1
protein-containing complex	1
extracellular vesicle	1

Protein interactions and networks

STRING

2280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYL6B	MLC1	Q15049	828
MYL6B	PDE1B	Q01064	785
MYL6B	ITGA7	Q13683	695
MYL6B	PIP4K2C	Q8TBX8	671
MYL6B	MDM2	Q00987	637
MYL6B	GSTP1	P09211	590
MYL6B	MYL12A	P19105	521
MYL6B	ARPC1B	O15143	471
MYL6B	TNNI2	P48788	456
MYL6B	TNNT1	P13805	456
MYL6B	KLHL41	O60662	446
MYL6B	ANK1	P16157	428
MYL6B	TNNI1	P19237	407
MYL6B	TNNT3	P45378	407
MYL6B	MYL11	Q96A32	404

IntAct

97 interactions, top by confidence:

A	B	Type	Score
SPA17	MYL6B	psi-mi:“MI:0915”(physical association)	0.830
MYL6B	SPA17	psi-mi:“MI:0915”(physical association)	0.830
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
MYO6	GIPC1	psi-mi:“MI:0914”(association)	0.690
RAC1	COX6C	psi-mi:“MI:0914”(association)	0.640
ATF3	MYL6B	psi-mi:“MI:0914”(association)	0.530
MYL6	MYL6B	psi-mi:“MI:0914”(association)	0.530
S100A4	OIP5	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
FOS	MYO1C	psi-mi:“MI:2364”(proximity)	0.480
MYL6B	S	psi-mi:“MI:0915”(physical association)	0.480
ESR1		psi-mi:“MI:0914”(association)	0.460
	AP3D1	psi-mi:“MI:0914”(association)	0.460
	MYL12B	psi-mi:“MI:0914”(association)	0.460
MYO5A	MYL6B	psi-mi:“MI:0407”(direct interaction)	0.440
MYL6B	MYO5A	psi-mi:“MI:0407”(direct interaction)	0.440
	FER1L5	psi-mi:“MI:0915”(physical association)	0.400
ECE1	MYL6B	psi-mi:“MI:0915”(physical association)	0.370
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (183): MYL6B (Affinity Capture-MS), MYL6B (Two-hybrid), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS), MYL6B (Affinity Capture-MS)

ESM2 similar proteins: A0A125YHX7, A0JNJ5, F1RRT2, J7HCX7, O15182, O35648, P02600, P02602, P02604, P02605, P02606, P05434, P05976, P05977, P06742, P08590, P09540, P09541, P09542, P12829, P14649, P16409, P17209, P41044, P41208, P41209, P53014, P53441, P54213, P54357, P82159, P82160, P85100, Q06827, Q09196, Q12798, Q24621, Q24654, Q24756, Q27177

Diamond homologs: A0JNJ5, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4UHC0, A8CEP3, A8I1Q0, F1RRT2, J7HCX7, O14008, O60041, O82018, O94739, P02597, P02598, P02600, P02602, P02604, P02605, P02606, P02607, P04353, P04464, P05419, P05976, P05977, P06742, P06787, P07290, P07291, P07462, P07463, P08053, P08590, P09540, P09541, P09542, P0DH95, P0DH96

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MYLK	up-regulates	MYL6B	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
RHO GTPases activate PAKs	8	66.9×	7e-11
RHO GTPases activate CIT	6	55.5×	2e-07
RHO GTPases Activate ROCKs	5	46.2×	2e-06
RHO GTPases activate IQGAPs	6	31.9×	2e-06
Parasite infection	6	31.9×	2e-06
Leishmania phagocytosis	6	31.9×	2e-06
RHO GTPases activate PKNs	6	29.3×	2e-06
Fcgamma receptor (FCGR) dependent phagocytosis	6	25.7×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
actin filament-based movement	7	73.0×	3e-09
actin filament organization	10	15.4×	4e-07
regulation of cell shape	6	9.6×	2e-03
endocytosis	7	8.7×	2e-03
actin cytoskeleton organization	8	8.2×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2013 predictions. Top by Δscore:

Variant	Effect	Δscore
12:56152627:GCAGG:G	donor_gain	1.0000
12:56152630:GG:G	donor_gain	1.0000
12:56152631:GG:G	donor_gain	1.0000
12:56154090:GTG:G	donor_gain	1.0000
12:56154839:GG:G	donor_gain	1.0000
12:56154840:GG:G	donor_gain	1.0000
12:56155054:GA:G	acceptor_gain	1.0000
12:56155197:TGGT:T	donor_loss	1.0000
12:56155200:T:A	donor_loss	1.0000
12:56155410:A:AG	acceptor_gain	1.0000
12:56155411:A:G	acceptor_gain	1.0000
12:56155412:C:G	acceptor_gain	1.0000
12:56155414:TCCA:T	acceptor_loss	1.0000
12:56155414:TCCAG:T	acceptor_gain	1.0000
12:56155415:CCA:C	acceptor_loss	1.0000
12:56155415:CCAG:C	acceptor_gain	1.0000
12:56155416:CAG:C	acceptor_gain	1.0000
12:56155417:A:AG	acceptor_gain	1.0000
12:56155417:A:AT	acceptor_loss	1.0000
12:56155417:AGA:A	acceptor_gain	1.0000
12:56155418:G:GG	acceptor_gain	1.0000
12:56155418:GA:G	acceptor_gain	1.0000
12:56155418:GAG:G	acceptor_gain	1.0000
12:56155418:GAGC:G	acceptor_gain	1.0000
12:56155418:GAGCT:G	acceptor_gain	1.0000
12:56155505:G:GT	donor_gain	1.0000
12:56155538:G:GT	donor_gain	1.0000
12:56155559:G:GT	donor_gain	1.0000
12:56157463:TTCA:T	acceptor_loss	1.0000
12:56157464:TCAG:T	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000265933 (12:56156421 A>G), RS1000893926 (12:56151448 C>A), RS1001177739 (12:56156252 G>A), RS1001371958 (12:56154167 G>C,T), RS1001775884 (12:56156048 G>A), RS1002175197 (12:56157915 C>A,T), RS1002252777 (12:56150603 G>A), RS1002285168 (12:56150851 G>A), RS1002849511 (12:56154541 C>T), RS1002888126 (12:56150677 G>A), RS1003359827 (12:56157384 C>T), RS1004303195 (12:56157630 T>C), RS1004771946 (12:56154245 G>A,T), RS1006383971 (12:56155960 G>A), RS1006935105 (12:56156690 C>G,T)

Disease associations

OMIM: gene MIM:609930 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008916_124	Asthma	1.000000e-16

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, decreases reaction, increases abundance	2
Acetaminophen	decreases expression, affects response to substance	2
FR900359	decreases phosphorylation	1
ginger extract	decreases expression, decreases reaction, increases abundance	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, increases reaction	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
ICG 001	increases expression	1
jinfukang	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Caffeine	decreases expression	1
Cisplatin	affects expression	1
Dexamethasone	decreases expression	1
Dinitrochlorobenzene	affects binding	1
Gasoline	decreases expression, increases abundance, affects cotreatment	1
Hydralazine	affects cotreatment, increases expression	1
Oils, Volatile	increases abundance, decreases expression, decreases reaction	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Potassium Dichromate	increases expression	1
Progesterone	decreases expression	1
Smoke	decreases expression	1
Dronabinol	increases expression	1
Tretinoin	decreases expression	1
Valproic Acid	affects cotreatment, increases expression	1
Metribolone	affects splicing	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3BN	Abcam HEK293T MYL6B KO	Transformed cell line	Female

Clinical trials (associated diseases)

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