Gene Information | |
---|---|
Gene Name | SCH |
Organism | Homo sapiens (Human) |
Gene Length | 595 |
Protein Names | Merlin (Moesin-ezrin-radixin-like protein) (Neurofibromin-2) (Schwannomerlin) (Schwannomin) |
Target Name | NA |
Target Type | NA |
Gene Age | NA |
Evolutionary Stage | NA |
AlphaFoldDB | P35240 |
Gene Card | NF2 |
Uniprot ID | P35240 |
Pfam | PF00769; PF20492; PF09380; PF00373; PF09379 |
In ASD | no |
Allosteric Prediction | NA |
Ortholog in Animals | NA |
Ohnologs | NA |
Paralogs | NA |
Tissue | NA |
Tissue Specificity | Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels. |
Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.021429(Rabbit) |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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PDB | 1H4R (X-ray 1.80A ) 3U8Z (X-ray 2.64A ) 4ZRI (X-ray 2.70A ) 4ZRJ (X-ray 2.30A ) 6CDS (X-ray 2.62A ) 7LWH (X-ray 1.61A ) |
DBSNP | rs121434261 rs1555994816 rs1601618646 rs771675702 rs764441073 rs74315492 rs766974263 rs765540111 rs74315503 rs74315493 rs74315494 |
Subcellular location [CC] | [Isoform 1]: Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Colocalizes with MPP1 in non-myelin-forming Schwann cells. Binds with DCAF1 in the nucleus. The intramolecular association of the FERM domain with the C-terminal tail promotes nuclear accumulation. The unphosphorylated form accumulates predominantly in the nucleus while the phosphorylated form is largely confined to the non-nuclear fractions.; [Isoform 7]: Cytoplasm, perinuclear region. Cytoplasmic granule. Note=Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 7 is absent from ruffling membranes and filopodia.; [Isoform 9]: Cytoplasm, perinuclear region. Cytoplasmic granule. Note=Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 9 is absent from ruffling membranes and filopodia.; [Isoform 10]: Nucleus. Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, perinuclear region. Cytoplasmic granule. Cytoplasm, cytoskeleton. Note=In a fibroblastic cell line, isoform 10 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. |
Mouse PG classification | NA |
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