| Gene Symbol | NF2 |
|---|---|
| Entrez Gene | 4771 |
| Alt Symbol | ACN, BANF, SCH |
| Species | Human |
| Gene Type | protein-coding |
| Description | neurofibromin 2 (merlin) |
| Other Description | merlin|moesin-ezrin-radixin like|moesin-ezrin-radixin-like protein|moesin-ezrin-radizin-like protein|neurofibromin 2 (bilateral acoustic neuroma)|neurofibromin-2|schwannomerlin|schwannomin |
| Swissprots | Q969N0 Q9UNH3 Q9BTW3 Q96T30 O95683 Q96T33 Q9UNH4 Q96T31 Q9UNG9 Q96T32 P35240 Q8WUJ2 Q969Q3 |
| Accessions | AAD14139 AAF80764 CAA51220 CAA76992 CAA76993 EAW59814 EAW59815 EAW59816 EAW59817 EAW59818 EAW59819 EAW59820 EAW59821 EAW59822 EAW59823 EAW59824 EAW59825 EAW59826 EAW59827 EAW59828 EAW59829 EAW59830 EAW59831 EAW59832 EAW59833 P35240 AF113694 AAF29587 AF122827 AAD48752 AF122828 AAD48753 AF123570 AAD48754 AF369657 AAK54160 AF369658 AAK54161 AF369659 AF369660 AF369661 AAK54162 AF369662 AAK54163 AF369663 AAK54164 AF369664 AAK54165 AF369665 AAK54166 AF369666 AF369667 AF369668 AF369700 AAK54195 AF369701 AAK54196 AF369702 AF369703 AK092306 AK092515 AK297116 BAH12502 BC003112 AAH03112 BC007279 BC007336 BC010060 BC020257 AAH20257 BC071653 CF138178 CN419318 CR456530 CAG30416 CU013130 CAK54561 CU013418 CAK54860 DQ596361 DQ891697 ABM82623 DQ894878 ABM85804 EF517524 ABP73252 L11353 AAA36212 L27065 AAA62422 L27066 L28839 S73853 AAB31736 S73854 AAB31737 S73856 AAB31738 Z22664 CAA80377 NM_000268 NP_000259 NM_016418 NP_057502 NM_181825 NP_861546 NM_181828 NP_861966 NM_181829 NP_861967 NM_181830 NP_861968 NM_181831 NP_861969 NM_181832 NP_861970 NM_181833 NP_861971 NM_181826 NM_181827 NM_181834 NM_181835 |
| Function | Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:20159598, ECO:0000269|PubMed:20178741}. |
| Subcellular Location | 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. |
| 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. |
| Top Pathways | Hippo signaling pathway |