Description:
NEUROFIBROMATOSIS, TYPE II; NF2
NEUROFIBROMIN 2; NF2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
NF2 |
| Chromosomal Location |
22q12.2 |
| Allelic Variant 1 |
; NEUROFIBROMATOSIS, TYPE 2 |
| Identified Mutation |
476delA |
| Remarks |
Clinically affected; mild right ocular ptosis; two hypopigmented spots: right thigh and left flank; three or four cafe-au-lait macules clustered on right hip; one fleshy cutaneous tumor on left abdomen; bilateral acoustic neuromas and right orbit meningioma; MRI of spine showed additional schwannomas and possibly meningiomas along the CNS axis; very mild conductive hearing loss; no family history; donor subject is heterozygous for a 1 bp deletion at nucleotide 476 in exon 5 of the NF2 gene (476delA) resulting in a frameshift (codon 159 |
| Gene Cards |
NF2 |
| Gene Ontology |
GO:0005198 structural molecule activity |
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GO:0005856 cytoskeleton |
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GO:0005886 plasma membrane |
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GO:0007605 perception of sound |
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GO:0008092 cytoskeletal protein binding |
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GO:0008285 negative regulation of cell proliferation |
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GO:0045786 negative regulation of cell cycle |
| NCBI Gene |
Gene ID:4771 |
| NCBI GTR |
101000 NEUROFIBROMATOSIS, TYPE II; NF2 |
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607379 NEUROFIBROMIN 2; NF2 |
| OMIM |
101000 NEUROFIBROMATOSIS, TYPE II; NF2 |
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607379 NEUROFIBROMIN 2; NF2 |
| Omim Description |
ACOUSTIC NEURINOMA, BILATERAL; ACNNEUROFIBROMIN 2, INCLUDED |
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ACOUSTIC SCHWANNOMAS, BILATERAL |
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BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF |
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MERLIN, INCLUDED |
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NEUROFIBROMATOSIS, CENTRAL TYPE |
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NEUROFIBROMATOSIS, TYPE II; NF2 |
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SCHWANNOMIN, INCLUDED; SCH, INCLUDED |
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