Gene

nf2b

ID
ZDB-GENE-040622-3
Name
neurofibromin 2b (merlin)
Symbol
nf2b Nomenclature History
Previous Names
  • nf2 (1)
  • NF2a
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to have actin binding activity. Predicted to localize to cytoskeleton. Used to study choledochal cyst. Human ortholog(s) of this gene implicated in familial meningioma; neurilemmomatosis; and neurofibromatosis 2. Orthologous to human NF2 (neurofibromin 2).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nf2b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
neurilemmomatosis Alliance Schwannomatosis, somatic 162091
neurofibromatosis 2 Alliance Neurofibromatosis, type 2 101000
Meningioma, NF2-related, somatic 607174
Associated With nf2b Via Experimental Models
Human Disease Fish Conditions Citations
choledochal cyst nf2bhi3332Tg standard conditions Sadler et al., 2005
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR019747 FERM conserved site
Domain IPR000299 FERM domain
Domain IPR011259 Ezrin/radixin/moesin, C-terminal
Domain IPR018979 FERM, N-terminal
Domain IPR018980 FERM, C-terminal PH-like domain
Domain IPR019748 FERM central domain
Domain IPR019749 Band 4.1 domain
Domain IPR041789 ERM family, FERM domain C-lobe
Family IPR000798 Ezrin/radixin/moesin-like
Family IPR011174 Ezrin/radixin/moesin
Homologous_superfamily IPR008954 Moesin tail domain superfamily
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR014352 FERM/acyl-CoA-binding protein superfamily
Homologous_superfamily IPR029071 Ubiquitin-like domain superfamily
Homologous_superfamily IPR035963 FERM superfamily, second domain
Domain Details Per Protein
Protein Length Band 4.1 domain ERM family, FERM domain C-lobe Ezrin/radixin/moesin Ezrin/radixin/moesin, C-terminal Ezrin/radixin/moesin-like FERM/acyl-CoA-binding protein superfamily FERM central domain FERM conserved site FERM, C-terminal PH-like domain FERM domain FERM, N-terminal FERM superfamily, second domain Moesin tail domain superfamily PH-like domain superfamily Ubiquitin-like domain superfamily
UniProtKB:Q6Q413 586
UniProtKB:E9QGK2 96
UniProtKB:Q32PS2 586
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations