InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NF2

Summary

InnateDB Gene

IDBG-3678.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NF2

Gene Name

neurofibromin 2 (merlin)

Synonyms

ACN; BANF; SCH

Species

Homo sapiens

Ensembl Gene

ENSG00000186575

Encoded Proteins

IDBP-3680

neurofibromin 2 (merlin)

IDBP-3682

neurofibromin 2 (merlin)

IDBP-3684

neurofibromin 2 (merlin)

IDBP-3686

neurofibromin 2 (merlin)

IDBP-3688

neurofibromin 2 (merlin)

IDBP-3692

neurofibromin 2 (merlin)

IDBP-234490

neurofibromin 2 (merlin)

IDBP-294654

neurofibromin 2 (merlin)

IDBP-294651

neurofibromin 2 (merlin)

IDBP-371161

neurofibromin 2 (merlin)

IDBP-371164

neurofibromin 2 (merlin)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 22:29603556-29698598

Strand

Forward strand

Band

q12.2

Transcripts

ENST00000361166	ENSP00000354529
ENST00000338641	ENSP00000344666
ENST00000361452	ENSP00000354897
ENST00000361676	ENSP00000355183
ENST00000353887	ENSP00000340626
ENST00000334961	ENSP00000335652
ENST00000397789	ENSP00000380891
ENST00000403435	ENSP00000384029
ENST00000403999	ENSP00000384797
ENST00000413209	ENSP00000409921
ENST00000432151	ENSP00000395885

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 65 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	65 [view]
Protein-Protein	64 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding

Biological Process

GO:0001707	mesoderm formation
GO:0001953	negative regulation of cell-matrix adhesion
GO:0006469	negative regulation of protein kinase activity
GO:0007398	ectoderm development
GO:0007420	brain development
GO:0008156	negative regulation of DNA replication
GO:0008285	negative regulation of cell proliferation
GO:0014010	Schwann cell proliferation
GO:0021766	hippocampus development
GO:0022408	negative regulation of cell-cell adhesion
GO:0030036	actin cytoskeleton organization
GO:0030336	negative regulation of cell migration
GO:0031647	regulation of protein stability
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:0045216	cell-cell junction organization
GO:0045597	positive regulation of cell differentiation
GO:0046426	negative regulation of JAK-STAT cascade
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

Cellular Component

GO:0001726	ruffle
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:0016020	membrane
GO:0019898	extrinsic component of membrane
GO:0030027	lamellipodium
GO:0030175	filopodium
GO:0030864	cortical actin cytoskeleton
GO:0031527	filopodium membrane
GO:0032154	cleavage furrow
GO:0032587	ruffle membrane
GO:0045177	apical part of cell
GO:0048471	perinuclear region of cytoplasm

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000009073

View Gene Order

ENSBTAG00000013153

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

erbb2erbb3pathway

ErbB2/ErbB3 signaling events

Cross-References

SwissProt

P35240

TrEMBL

A0A024R1J9 Q9NRW8

UniProt Splice Variant

Entrez Gene

4771

UniGene

Hs.608781 Hs.627925 Hs.628119

RefSeq

NM_016418 NM_000268 NM_181825 NM_181828 NM_181829 NM_181830 NM_181831 NM_181832 NM_181833

HUGO

HGNC:7773

OMIM

607379

CCDS

CCDS13862 CCDS13861 CCDS13863 CCDS13864 CCDS13865 CCDS54516

HPRD

06980

IMGT

EMBL

AF122827 AF122828 AF123570 AF165426 AF369657 AF369658 AF369661 AF369662 AF369663 AF369664 AF369665 AF369700 AF369701 BC003112 BC020257 CH471095 CR456530 L11353 X72655 X72656 X72657 X72658 X72659 X72660 X72661 X72662 X72663 X72664 X72665 X72666 X72667 X72668 X72669 X72670 Y18000 Z22664

GenPept

AAA36212 AAD48752 AAD48753 AAD48754 AAF80764 AAH03112 AAH20257 AAK54160 AAK54161 AAK54162 AAK54163 AAK54164 AAK54165 AAK54166 AAK54195 AAK54196 CAA51220 CAA76992 CAA76993 CAA80377 CAG30416 EAW59818 EAW59822 EAW59823 EAW59829

RNA Seq Atlas

4771