MYL11

protein-coding

myosin light chain 11, the group of Myosin light chains, class 2

Gene summary

Predicted to enable calcium ion binding activity. Predicted to be a structural constituent of muscle. Involved in muscle contraction. Located in lysosomal membrane. Implicated in distal arthrogryposis type 1C. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

MYLPF

MANE transcript

NM_013292.5

Inheritance

AR, AD

ClinVar variants

P:4U:35B:1

Top phenotype

Arthrogryposis, distal, type 1C

gnomAD constraint

pLI —, LoF o/e 0.11

Max pathogenic AF

—

Genomic locus

chr16:30,370,934-30,377,991

External References & Databases

Ensembl (ENSG00000180209)

Transcript & Mutation Effects

hg38 • Region Span ~7.1 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

arthrogryposis, distal, type 1CMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0030847

Submitter: PanelApp Australia

arthrogryposis, distal, type 1CLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0030847

Submitter: G2P

arthrogryposis, distal, type 1CSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0030847

Submitter: Labcorp Genetics (formerly Invitae)

arthrogryposis, distal, type 1CMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0030847

Submitter: PanelApp Australia

arthrogryposis, distal, type 1CSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0030847

Submitter: G2P

arthrogryposis, distal, type 1CSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0030847

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Arthrogryposis, distal, type 1CAD/AR

Manifestation: Musculoskeletal

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 32707087

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYL11 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 31

Arthrogryposis, distal, type 1CTotal: 7

Distal arthrogryposisTotal: 4

not providedTotal: 1

MYL11-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_013292.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense		4 clinvar	31 clinvar	1 clinvar		36
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	4	35	1	0	40

Highest pathogenic variant AF is 0.00004027641

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_013292.5	RefSeq	NP_037424.2	7	MANE Select
ENST00000322861.12	Ensembl	ENSP00000325239.7	7	MANE Select
NM_001324458.2	RefSeq	NP_001311387.1	7	Standard
NM_001324459.2	RefSeq	NP_001311388.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Focal adhesion - Homo sapiens (human)
Regulation of actin cytoskeleton - Homo sapiens (human)
Leukocyte transendothelial migration - Homo sapiens (human)
Focal Adhesion
Smooth Muscle Contraction

Biological Process

muscle contraction
immune response
skeletal muscle tissue development

Molecular Function

calcium ion binding
structural constituent of muscle

Cellular Component

lysosomal membrane
cytosol
muscle myosin complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000322861
Coding exons: 7
Length: 7058
Individuals with no LoFs: 125726
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 125736
p: 0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.650	88	107	0.823	0.00000589	1143
Missense (PolyPhen)		24	45.599	0.52633		487
Synonymous	0.637	37	42.3	0.875	0.00000266	293
Loss of Function	2.48	1	9.07	0.110	3.82e-7	117

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.513
RVIS EVS: -0.27
RVIS percentile EVS: 33.97

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.801

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium