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
	4771
	n/a
	ENSG00000186575
	n/a
	P35240
	n/a
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
NP_000259; NP_057502; NP_861546; NP_861966; NP_861967;
	NP_861968; NP_861969; NP_861970; NP_861971
	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.^[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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] NF2 - Cronfa NCBI

[1]

[2]

NF2

Cyfystyron

Llyfryddiaeth

Cyfeiriadau

Content Disclaimer