NF2

NF2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 4ZRJ, 1H4R, 3U8Z, 4ZRI
Dynodwyr
Cyfenwau	NF2, ACN, BANF, SCH, neurofibromin 2 (merlin), neurofibromin 2, merlin-1, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Dynodwyr allanol	OMIM: 607379 HomoloGene: 2180 GeneCards: NF2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • cytoskeletal protein binding • GO:0001948, GO:0016582 protein binding • actin binding Cydrannau o'r gell • cytoplasm • cell body • cell projection • bilen • filopodium • ruffle • adherens junction • Cellbilen • apical part of cell • ruffle membrane • early endosome • nucleolus • cortical actin cytoskeleton • perinuclear region of cytoplasm • neuron projection • cleavage furrow • Cytosgerbwd • cnewyllyn cell • lamellipodium • filopodium membrane • cytosol Prosesau biolegol • negative regulation of receptor signaling pathway via JAK-STAT • regulation of gliogenesis • cell-cell junction organization • regulation of protein stability • negative regulation of cell-cell adhesion • negative regulation of protein kinase activity • mesoderm formation • ectoderm development • negative regulation of DNA replication • Schwann cell proliferation • regulation of neural precursor cell proliferation • regulation of protein localization to nucleus • negative regulation of cell-matrix adhesion • odontogenesis of dentin-containing tooth • brain development • negative regulation of cell migration • lens fiber cell differentiation • regulation of cell population proliferation • positive regulation of cell differentiation • negative regulation of MAPK cascade • regulation of hippo signaling • hippocampus development • regulation of stem cell proliferation • regulation of neurogenesis • actin cytoskeleton organization • positive regulation of stress fiber assembly • negative regulation of cell population proliferation • negative regulation of tyrosine phosphorylation of STAT protein • regulation of apoptotic process • regulation of cell cycle Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4771	n/a
Ensembl	ENSG00000186575	n/a
UniProt	P35240	n/a
RefSeq (mRNA)	NM_181835 NM_000268 NM_016418 NM_181825 NM_181826 NM_181827 NM_181828 NM_181829 NM_181830 NM_181831 NM_181832 NM_181833 NM_181834	n/a
RefSeq (protein)	NP_000259 NP_057502 NP_861546 NP_861966 NP_861967 NP_861968 NP_861969 NP_861970 NP_861971	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn NF2 yw NF2 a elwir hefyd yn Neurofibromin 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 22, band 22q12.2.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn NF2.

• ACN
• SCH
• BANF

Llyfryddiaeth

• "The conformation change and tumor suppressor role of Merlin are both independent of Serine 518 phosphorylation. ". Biochem Biophys Res Commun. 2017. PMID 28919412.
• "Meningiomas induced by low-dose radiation carry structural variants of NF2 and a distinct mutational signature. ". Acta Neuropathol. 2017. PMID 28474103.
• "Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy?". Am J Med Genet A. 2017. PMID 28429859.
• "Cranial irradiation in childhood mimicking neurofibromatosis type II. ". Am J Med Genet A. 2017. PMID 28422417.
• "A splicing variant of Merlin promotes metastasis in hepatocellular carcinoma.". Nat Commun. 2015. PMID 26443326.