NF2 - Gene info - The Human Protein Atlas

NF2

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TISSUE

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SUBCELL

CELL LINE

CANCER

GENE INFORMATION

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Gene name	NF2 (HGNC Symbol)
Synonyms	merlin
Description	Neurofibromin 2 (merlin) (HGNC Symbol)
Entrez gene summary	This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]
Chromosome	22
Cytoband	q12.2
Chromosome location (bp)	29603556 - 29698598
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000186575 (version 78.38)
Entrez gene	4771
UniProt	P35240 (UniProt - Evidence at protein level)
neXtProt	NX_P35240
Antibodypedia	NF2 antibodies

PROTEIN VIEW

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NF2-001		NF2-003		NF2-004		NF2-005		NF2-006		NF2-007		NF2-008		NF2-009		NF2-010		NF2-201

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
NF2-001	ENSP00000344666 ENST00000338641	P35240 Show all » « Hide P35240 [Direct mapping] Merlin A0A024R1J8 [Target identity:100%; Query identity:100%] Neurofibromin 2 (Bilateral acoustic neuroma), isoform CRA_a {ECO:0000313\|EMBL:EAW59824.1} Q9NRW8 [Target identity:6%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001707 [mesoderm formation] GO:0001726 [ruffle] GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0005912 [adherens junction] GO:0006469 [negative regulation of protein kinase activity] GO:0007398 [ectoderm development] GO:0007420 [brain development] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0021766 [hippocampus development] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030027 [lamellipodium] GO:0030036 [actin cytoskeleton organization] GO:0030175 [filopodium] GO:0030336 [negative regulation of cell migration] GO:0030864 [cortical actin cytoskeleton] GO:0031647 [regulation of protein stability] GO:0032154 [cleavage furrow] GO:0035330 [regulation of hippo signaling] GO:0042127 [regulation of cell proliferation] GO:0042475 [odontogenesis of dentin-containing tooth] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0043409 [negative regulation of MAPK cascade] GO:0045177 [apical part of cell] GO:0045216 [cell-cell junction organization] GO:0045597 [positive regulation of cell differentiation] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly] GO:0070306 [lens fiber cell differentiation] GO:1900180 [regulation of protein localization to nucleus] GO:2000177 [regulation of neural precursor cell proliferation]	595	69.7	No	0
NF2-003	ENSP00000384797 ENST00000403999	P35240 Show all » « Hide P35240 [Direct mapping] Merlin A0A024R1J9 [Target identity:100%; Query identity:100%] Neurofibromin 2 (Bilateral acoustic neuroma), isoform CRA_e {ECO:0000313\|EMBL:EAW59829.1} Q9NRW8 [Target identity:6%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	590	69.1	No	0
NF2-004	ENSP00000384029 ENST00000403435	P35240 Show all » « Hide P35240 [Direct mapping] Merlin Q9NRW8 [Target identity:6%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	561	65.4	No	0
NF2-005	ENSP00000340626 ENST00000353887	P35240 Show all » « Hide P35240 [Direct mapping] Merlin A0A024R1D9 [Target identity:100%; Query identity:100%] Neurofibromin 2 (Bilateral acoustic neuroma), isoform CRA_d {ECO:0000313\|EMBL:EAW59831.1} Q9NRW8 [Target identity:7%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	507	59.1	No	0
NF2-006	ENSP00000355183 ENST00000361676	P35240 Show all » « Hide P35240 [Direct mapping] Merlin A0A024R1I0 [Target identity:100%; Query identity:100%] Neurofibromin 2 (Bilateral acoustic neuroma), isoform CRA_g {ECO:0000313\|EMBL:EAW59828.1} Q9NRW8 [Target identity:6%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	548	64	No	0
NF2-007	ENSP00000354529 ENST00000361166	P35240 Show all » « Hide P35240 [Direct mapping] Merlin A0A024R1J9 [Target identity:100%; Query identity:100%] Neurofibromin 2 (Bilateral acoustic neuroma), isoform CRA_e {ECO:0000313\|EMBL:EAW59829.1} Q9NRW8 [Target identity:6%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	590	69.1	No	0
NF2-008	ENSP00000335652 ENST00000334961	P35240 Show all » « Hide P35240 [Direct mapping] Merlin A0A024R1D9 [Target identity:100%; Query identity:100%] Neurofibromin 2 (Bilateral acoustic neuroma), isoform CRA_d {ECO:0000313\|EMBL:EAW59831.1} Q9NRW8 [Target identity:7%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	507	59.1	No	0
NF2-009	ENSP00000380891 ENST00000397789	P35240 Show all » « Hide P35240 [Direct mapping] Merlin A0A024R1J9 [Target identity:100%; Query identity:100%] Neurofibromin 2 (Bilateral acoustic neuroma), isoform CRA_e {ECO:0000313\|EMBL:EAW59829.1} Q9NRW8 [Target identity:6%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	590	69.1	No	0
NF2-010	ENSP00000354897 ENST00000361452	P35240 Show all » « Hide P35240 [Direct mapping] Merlin A0A024R1F6 [Target identity:100%; Query identity:100%] Neurofibromin 2 (Bilateral acoustic neuroma), isoform CRA_i {ECO:0000313\|EMBL:EAW59830.1} Q9NRW8 [Target identity:6%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	549	64.2	No	0
NF2-201	ENSP00000409921 ENST00000413209	P35240 Show all » « Hide P35240 [Direct mapping] Merlin Q9NRW8 [Target identity:23%; Query identity:100%] Neurofibromatosis type 2 {ECO:0000313\|EMBL:AAF80764.1}	Show » « Hide Predicted intracellular proteins Plasma proteins Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]	165	19.2	No	0

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.