Gene Gene information from NCBI Gene database.
Entrez ID 103910
Gene name Myosin light chain 12B
Gene symbol MYL12B
Synonyms (NCBI Gene)
MLC-BMRLC2
Chromosome 18
Chromosome location 18p11.31
Summary The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [
miRNA miRNA information provided by mirtarbase database.
274
miRTarBase ID miRNA Experiments Reference
MIRT041406 hsa-miR-193b-3p CLASH 23622248
MIRT080003 hsa-miR-4311 PAR-CLIP 20371350
MIRT561170 hsa-miR-582-3p PAR-CLIP 20371350
MIRT561171 hsa-miR-3617-5p PAR-CLIP 20371350
MIRT561169 hsa-miR-641 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 19328794, 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609211 29827 ENSG00000118680
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14950
Protein name Myosin regulatory light chain 12B (MLC-2A) (MLC-2) (Myosin regulatory light chain 2-B, smooth muscle isoform) (Myosin regulatory light chain 20 kDa) (MLC20) (Myosin regulatory light chain MRLC2) (SHUJUN-1)
Protein function Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cy
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13405 EF-hand_6 33 62 EF-hand domain Domain
PF08976 EF-hand_11 92 168 EF-hand domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in various hematopoietic cells. {ECO:0000269|PubMed:11436981, ECO:0000269|PubMed:18480596}.
Sequence
Sequence length 172
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance
Focal adhesion
Adherens junction
Tight junction
Platelet activation
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Motor proteins
Shigellosis
Salmonella infection
  Smooth Muscle Contraction
RHO GTPases activate PAKs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Evidence Score
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INJURY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cardiomyopathies Associate 33731536
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Associate 19046427
★☆☆☆☆
Found in Text Mining only
Disease Associate 33731536
★☆☆☆☆
Found in Text Mining only
Hyperglycemia Stimulate 23963366
★☆☆☆☆
Found in Text Mining only
Muscular Diseases Associate 33731536
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 17131471
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 23374291
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Associate 37588985
★☆☆☆☆
Found in Text Mining only
Precursor T Cell Lymphoblastic Leukemia Lymphoma Associate 23538510
★☆☆☆☆
Found in Text Mining only