Gene Report
Basic Info
| Approved Symbol |
MYLPF
|
| Symbol Alias |
MRLC2, HUMMLC2B, MYL11 |
| Approved Name |
myosin light chain, phosphorylatable, fast skeletal muscle |
| Name Alias |
myosin, light chain 11, regulatory, "myosin regulatory light chain 2" |
| Location |
16p11.2 |
| Position |
chr16:30386112-30389312, + |
| External Links |
HGNC: 29824
Entrez Gene: 29895
Ensembl: ENSG00000180209
UCSC: uc002dxv.1
|
| No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
| Source |
Mapped by CNV |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 3)
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 5)
Gene related KEGG pathways (count: 4)
| ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
| hsa04510 |
Focal adhesion |
40 |
Cell-matrix adhesions play essential roles in important biol......
Cell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the cell-extracellular matrix contact points, specialized structures are formed and termed focal adhesions, where bundles of actin filaments are anchored to transmembrane receptors of the integrin family through a multi-molecular complex of junctional plaque proteins. Some of the constituents of focal adhesions participate in the structural link between membrane receptors and the actin cytoskeleton, while others are signalling molecules, including different protein kinases and phosphatases, their substrates, and various adapter proteins. Integrin signaling is dependent upon the non-receptor tyrosine kinase activities of the FAK and src proteins as well as the adaptor protein functions of FAK, src and Shc to initiate downstream signaling events. These signalling events culminate in reorganization of the actin cytoskeleton; a prerequisite for changes in cell shape and motility, and gene expression. Similar morphological alterations and modulation of gene expression are initiated by the binding of growth factors to their respective receptors, emphasizing the considerable crosstalk between adhesion- and growth factor-mediated signalling.
More...
|
| hsa04670 |
Leukocyte transendothelial migration |
22 |
Leukocyte migaration from the blood into tissues is vital fo......
Leukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (CAM) and then migrate across the vascular endothelium. A leukocyte adherent to CAMs on the endothelial cells moves forward by leading-edge protrusion and retraction of its tail. In this process, alphaL /beta2 integrin activates through Vav1, RhoA, which subsequently activates the kinase p160ROCK. ROCK activation leads to MLC phosphorylation, resulting in retraction of the actin cytoskeleton. Moreover, Leukocytes activate endothelial cell signals that stimulate endothelial cell retraction during localized dissociation of the endothelial cell junctions. ICAM-1-mediated signals activate an endothelial cell calcium flux and PKC, which are required for ICAM-1 dependent leukocyte migration. VCAM-1 is involved in the opening of the "endothelial passage" through which leukocytes can extravasate. In this regard, VCAM-1 ligation induces NADPH oxidase activation and the production of reactive oxygen species (ROS) in a Rac-mediated manner, with subsequent activation of matrix metallopoteinases and loss of VE-cadherin-mediated adhesion.
More...
|
| hsa04530 |
Tight junction |
18 |
Epithelial tight junctions (TJs) are composed of at least th......
Epithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of many different proteins that form large complexes. The transmembrane proteins mediate cell adhesion and are thought to constitute the intramembrane and paracellular diffusion barriers. The cytoplasmic 'plaque' contains three major multi-protein complexes consisting largely of scaffolding proteins, the ZO protein complex, the CRB3-Pals1-PATJ complex and the PAR-3-aPKC-PAR-6 complex. The ZO protein complex appears to organize the transmembrane proteins and couple them to other cytoplasmic proteins and to actin microfilaments. Two evolutionarily conserved protein complexes, the CRB3 and PAR complexes are involved in the establishment and maintenance of epithelial cell polarity. Besides these three protein complexes which seem to be constitutively associated at TJs, a number of proteins with different functions has been identified at TJs. These include additional scaffolding proteins like MUPP1 and MAGI-1, adaptor proteins, transcription regulators and RNA processing factors, regulatory proteins like small GTPases and G-proteins, kinases and phosphatases, and heat shock proteins. These are proposed to be involved in junction assembly, barrier regulation, gene transcription, and perhaps other, presently undefined pathways.
More...
|
| hsa04810 |
Regulation of actin cytoskeleton |
48 |
|
Genes shared at least 5 GO terms with MYLPF (count: 0)
Genes shared at least 2 KEGG pathways with MYLPF (count: 23)
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