NF2

GENERAL INFORMATION

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Gene name

NF2

Gene description

Neurofibromin 2 (merlin)

Protein class

Cancer-related genes
Cytoskeleton related proteins
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

10
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression at variable levels. Highest expression in glandular epithelia and neurons in cns.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA003097 , CAB005385
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000334961
 
ENST00000338641
 
ENST00000353887
 
ENST00000361166
 
ENST00000361452
 
ENST00000361676
 
ENST00000397789
 
ENST00000403435
 
ENST00000403999
 
ENST00000413209
 
 
 
 


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 »
Show » Show » 595 69.7 No 0
NF2-003 ENSP00000384797
ENST00000403999
P35240
Show all »
Show » Show » 590 69.1 No 0
NF2-004 ENSP00000384029
ENST00000403435
P35240
Show all »
Show » Show » 561 65.4 No 0
NF2-005 ENSP00000340626
ENST00000353887
P35240
Show all »
Show » Show » 507 59.1 No 0
NF2-006 ENSP00000355183
ENST00000361676
P35240
Show all »
Show » Show » 548 64 No 0
NF2-007 ENSP00000354529
ENST00000361166
P35240
Show all »
Show » Show » 590 69.1 No 0
NF2-008 ENSP00000335652
ENST00000334961
P35240
Show all »
Show » Show » 507 59.1 No 0
NF2-009 ENSP00000380891
ENST00000397789
P35240
Show all »
Show » Show » 590 69.1 No 0
NF2-010 ENSP00000354897
ENST00000361452
P35240
Show all »
Show » Show » 549 64.2 No 0
NF2-201 ENSP00000409921
ENST00000413209
P35240
Show all »
Show » Show » 165 19.2 No 0