MYL6B (myosin light chain 6B)

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Gene Gene information from NCBI Gene database.
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Entrez ID 140465
Gene name Myosin light chain 6B
Gene symbol MYL6B
Synonyms (NCBI Gene)
MLC1SA
Chromosome 12
Chromosome location 12q13.2
Summary 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-tw
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16 Show/Hide all (16)
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GO ID Ontology Definition Evidence Reference
GO:0003774 Function Cytoskeletal motor activity TAS 2304459
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 15510214, 21299499, 25416956, 28514442, 32296183, 33961781
GO:0005829 Component Cytosol TAS
GO:0005859 Component Muscle myosin complex TAS 2458299
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
609930 29823 ENSG00000196465
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14649
Protein name Myosin light chain 6B (Myosin light chain 1 slow-twitch muscle A isoform) (MLC1sa) (Smooth muscle and nonmuscle myosin light chain alkali 6B)
Protein function Regulatory light chain of myosin. Does not bind calcium.
PDB 1OE9 , 1W7I , 1W7J , 7PLT , 7PLU , 7PLV , 7PLW , 7PLX , 7PLY , 7PLZ , 7PM0 , 7PM1 , 7PM2 , 7PM5 , 7PM6 , 7PM7 , 7PM8 , 7PM9 , 7PMA , 7PMB , 7PMC , 7PMD , 7PME , 7PMF , 7PMG , 7PMH , 7PMI , 7PMJ , 7PML
Family and domains
Sequence 
MPPKKDVPVKKPAGPSISKPAAKPAAAGAPPAKTKAEPAVPQAPQKTQEPPVDLSKVVIE
FNKDQLEEFKEAFELFDRVGDGKILYSQCGDVMRALGQNPTNAEVLKVLGNPKSDELKSR
RVDFETFLPMLQAVAKNRGQGTYEDYLEGFRVFDKEGNGKVMGAELRHVLTTLGEKMTEE
EVETVLAGHEDSNGCINYEAFLKHILSV
Sequence length 208
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Vascular smooth muscle contraction Smooth Muscle Contraction
Tight junction  
Motor proteins  
Oxytocin signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29439719 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29439719
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29439719
★★★★★
★☆☆☆☆
Found in Text Mining only
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MYL6 5 shared pathwaysVascular smooth muscle contraction, Tight junction, Motor proteins, Oxytocin signaling pathway, Smooth Muscle Contraction Related via 5 shared pathways including Vascular smooth muscle contraction, Tight junction. ACTG2 3 shared pathwaysVascular smooth muscle contraction, Motor proteins, Smooth Muscle Contraction Related via 3 shared pathways including Vascular smooth muscle contraction, Motor proteins. MYH11 4 shared pathwaysVascular smooth muscle contraction, Tight junction, Motor proteins, Smooth Muscle Contraction Related via 4 shared pathways including Vascular smooth muscle contraction, Tight junction. CALD1 2 shared pathwaysVascular smooth muscle contraction, Smooth Muscle Contraction Related via 2 shared pathways including Vascular smooth muscle contraction, Smooth Muscle Contraction. ACTA2 3 shared pathwaysVascular smooth muscle contraction, Motor proteins, Smooth Muscle Contraction Related via 3 shared pathways including Vascular smooth muscle contraction, Motor proteins.
Intestinal pseudo-obstruction Linked via 2 of 5 related genesACTG2, MYH11 Colonic neoplasms Linked via 2 of 5 related genesACTG2, ACTA2 Visceral myopathy Linked via 2 of 5 related genesACTG2, MYH11 Megacystis microcolon intestinal hypoperistalsis syndrome Linked via 2 of 5 related genesACTG2, MYH11 Aortic aneurysm Linked via 2 of 5 related genesMYH11, ACTA2