Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29895
Gene name	Myosin light chain 11
Gene symbol	MYL11
Synonyms (NCBI Gene)	DA1CHUMMLC2BMLC2BMRLC2MYLPF
Chromosome	16
Chromosome location	16p11.2

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018812	hsa-miR-335-5p	Microarray	18185580

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	TAS	6179945
GO:0006936	Process	Muscle contraction	IMP	32707087
GO:0007519	Process	Skeletal muscle tissue development	IBA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007519	Process	Skeletal muscle tissue development	ISS
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0008307	Function	Structural constituent of muscle	ISS
GO:0008307	Function	Structural constituent of muscle	TAS	6091059
GO:0016459	Component	Myosin complex	IEA
GO:0033275	Process	Actin-myosin filament sliding	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0060415	Process	Muscle tissue morphogenesis	ISS

MIM	HGNC	e!Ensembl
617378	29824	ENSG00000180209

Q96A32

Protein name

Myosin regulatory light chain 11 (Fast skeletal myosin light chain 2) (MLC2B) (Myosin light chain 11) (Myosin regulatory light chain 2, skeletal muscle isoform)

Protein function

Myosin regulatory subunit that plays an essential role to maintain muscle integrity during early development (By similarity). Plays a role in muscle contraction (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13405	EF-hand_6	29 → 58	EF-hand domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal and adult skeletal muscle. {ECO:0000269|PubMed:14756420}.

Sequence

MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL
NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL
EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

Sequence length

169

Interactions

View interactions

	KEGG		Reactome
	Focal adhesion Adherens junction Leukocyte transendothelial migration Regulation of actin cytoskeleton Motor proteins Cytoskeleton in muscle cells Shigellosis Salmonella infection		Smooth Muscle Contraction

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis, distal, type 1C	Likely pathogenic; Pathogenic	rs2049733161, rs748809300, rs756765686, rs2049768364	RCV001268957 RCV002221613 RCV002221612 RCV001268956	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal arthrogryposis	Likely pathogenic; Pathogenic	rs2049733161, rs748809300, rs756765686, rs2049768364	RCV001172491 RCV001172489 RCV001172488 RCV001172490	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MYL11 (myosin light chain 11)