NF2 - NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor Gene
Also Known as ACN; SCH; BANF; merlin-1
Species: Homo sapiens
About NF2
This gene has 15 transcripts (splice variants), 205 orthologues, 6 paralogues and is associated with 128 phenotypes. Ubiquitous expression in testis (RPKM 5.3), brain (RPKM 5.2) and 25 other tissues.
Summary
This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]
NF2 Products (23)
| mRNA | Protein | Name |
|---|---|---|
| NM_000268.4 | NP_000259.1 | merlin isoform 1 |
| NM_001407053.1 | NP_001393982.1 | merlin isoform 9 |
| NM_001407054.1 | NP_001393983.1 | merlin isoform 10 |
| NM_001407055.1 | NP_001393984.1 | merlin isoform 11 |
| NM_001407056.1 | NP_001393985.1 | merlin isoform 12 |
| NM_001407057.1 | NP_001393986.1 | merlin isoform 13 |
| NM_001407058.1 | NP_001393987.1 | merlin isoform 6 |
| NM_001407059.1 | NP_001393988.1 | merlin isoform 14 |
| NM_001407060.1 | NP_001393989.1 | merlin isoform 15 |
| NM_001407062.1 | NP_001393991.1 | merlin isoform 17 |
| NM_001407063.1 | NP_001393992.1 | merlin isoform 7 |
| NM_001407064.1 | NP_001393993.1 | merlin isoform 18 |
| NM_001407065.1 | NP_001393994.1 | merlin isoform 19 |
| NM_001407066.1 | NP_001393995.1 | merlin isoform 2 |
| NM_001407067.1 | NP_001393996.1 | merlin isoform 16 |
| NM_016418.5 | NP_057502.2 | merlin isoform 2 |
| NM_181825.3 | NP_861546.1 | merlin isoform 2 |
| NM_181828.3 | NP_861966.1 | merlin isoform 5 |
| NM_181829.3 | NP_861967.1 | merlin isoform 6 |
| NM_181830.3 | NP_861968.1 | merlin isoform 7 |
| NM_181831.3 | NP_861969.1 | merlin isoform 7 |
| NM_181832.3 | NP_861970.1 | merlin isoform 2 |
| NM_181833.3 | NP_861971.1 | merlin isoform 8 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9430655 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
9537418 | GOA |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
10861283 | GOA |
| located in nucleolus |
IDA
IDA: Inferred from direct assay
|
9537418 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10401006 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
17210637 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
10401006 | GOA |
NF2 Protein Structure
FERM_N: FERM N-terminal domain (29 - 102)
FERM_M: FERM central domain (109 - 222)
FERM_C: FERM C-terminal PH-like domain (226 - 315)
ERM: Ezrin/radixin/moesin family (347 - 595)
- 0
- 100
- 200
- 300
- 400
- 500
- 595 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
merlin |
|
NF2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NF2 | P35240 | GTPBP4 | Homo sapiens | Q9BZE4 | 17210637 | |
|
Intra
|
NF2 | P35240 | GTPBP4 | Homo sapiens | Q9BZE4 | 17210637 | |
|
Intra
|
NF2 | P35240 | GTPBP4 | Homo sapiens | Q9BZE4 | 17210637 | |
|
Intra
|
NF2 | P35240 | GTPBP4 | Homo sapiens | Q9BZE4 | 17210637 | |
|
Cross
|
NF2 | P35240 | Schip1 | Mus musculus | P0DPB4 | 10669747 | |
|
Intra
|
NF2 | P35240 | AMOT | Homo sapiens | Q4VCS5 | 21481793 | |
|
Intra
|
NF2 | P35240 | AMOT | Homo sapiens | Q4VCS5 | 21481793 | |
|
Intra
|
NF2 | P35240 | AMOT | Homo sapiens | Q4VCS5 | 33961781 | |
|
Intra
|
NF2 | P35240 | AMOT | Homo sapiens | Q4VCS5 | 24981860 | |
|
Intra
|
NF2 | P35240 | AMOT | Homo sapiens | Q4VCS5-2 | 21481793 | |
|
Intra
|
NF2 | P35240 | AMOT | Homo sapiens | Q4VCS5-1 | 21481793 | |
|
Intra
|
NF2 | P35240 | LATS1 | Homo sapiens | O95835 | 24012335 | |
|
Intra
|
NF2 | P35240 | LATS1 | Homo sapiens | O95835 | 24012335 | |
|
Intra
|
NF2 | P35240 | MAP3K11 | Homo sapiens | Q16584 | 20890305 | |
|
Intra
|
NF2 | P35240 | MED28 | Homo sapiens | Q9H204 | 15467741 | |
|
Intra
|
NF2 | P35240 | MED28 | Homo sapiens | Q9H204 | 15467741 | |
|
Intra
|
NF2 | P35240 | MED28 | Homo sapiens | Q9H204 | 15467741 | |
|
Intra
|
NF2 | P35240 | PATJ | Homo sapiens | Q8NI35 | 21481793 | |
|
Intra
|
NF2 | P35240 | HGS | Homo sapiens | O14964 | 29997244 | |
|
Intra
|
NF2 | P35240 | HGS | Homo sapiens | O14964 | 32814053 | |
|
Intra
|
NF2 | P35240 | HGS | Homo sapiens | O14964 | 37398436 | |
|
Intra
|
NF2 | P35240 | HGS | Homo sapiens | O14964 | 37398436 | |
|
Cross
|
NF2 | P35240 | Ppp1r12a | Rattus norvegicus | Q10728 | 16885985 |
NF2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81641 | NF2 Antibody (YA1386) | WB | Human, Mouse, Rat |
| HY-P81641A | NF2 Antibody (YA1386)(PBS only) | WB | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurofibromatosis, Type Ii |
|
|
| Acoustic Neuroma |
|
|
| Meningioma, Familial |
|
|
| Schwannomatosis 1 |
|
|
| Neurilemmomatosis |
|
|
| Spindle Cell Sarcoma |
|
|
| Neurofibromatosis |
|
|
| Benign Meningioma |
|
|
| Tanycytic Ependymoma |
|
|
| Clear Cell Ependymoma |
|
|
| Papillary Ependymoma |
|
|
| Malignant Peripheral Nerve Sheath Tumor |
|
|
| Neurofibroma |
|
|
| High Grade Ependymoma |
|
|
| Cellular Ependymoma |
|
|
| Transitional Meningioma |
|
|
| Neurilemmoma |
|
|
| Fibrous Meningioma |
|
|
| Spinal Cord Ependymoma |
|
|
| Neuroma |
|
|
| Neurofibrosarcoma |
|
|
| Anaplastic Ependymoma |
|
|
| Meningothelial Meningioma |
|
|
| Neurilemmoma Of The Fifth Cranial Nerve |
|
|
| Trigeminal Nerve Neoplasm |
|
|
| Optic Nerve Sheath Meningioma |
|
|
| Mesothelioma, Malignant |
|
|
| Neurofibromatosis, Type I |
|
|
| Malignant Pleural Mesothelioma |
|
|
| Spinal Cord Glioma |
|
|
| Schwannoma Of Twelfth Cranial Nerve |
|
|
| Hypoglossal Nerve Disease |
|
|
| Cerebellopontine Angle Tumor |
|
|
| Brain Meningioma |
|
|
| Intraventricular Meningioma |
|
|
| Chordoid Meningioma |
|
|
| Cerebral Convexity Meningioma |
|
|
| Intraorbital Meningioma |
|
|
| Parasagittal Meningioma |
|
|
| Psammomatous Meningioma |
|
|
| Sphenoorbital Meningioma |
|
|
| Spinal Cancer |
|
|
| Spinal Meningioma |
|
|
| Spinal Canal And Spinal Cord Meningioma |
|
|
| Childhood Meningioma |
|
|
| Plexiform Schwannoma |
|
|
| Supratentorial Meningioma |
|
|
| Osteoblastoma |
|
|
| Skull Base Cancer |
|
|
| Skull Base Meningioma |
|
|
| Peripheral Nerve Schwannoma |
|
|
| Clear Cell Meningioma |
|
|
| Optic Nerve Neoplasm |
|
|
| Intracranial Meningioma |
|
|
| Anterior Cranial Fossa Meningioma |
|
|
| Olfactory Groove Meningioma |
|
|
| Angiomatous Meningioma |
|
|
| Central Nervous System Fibrosarcoma |
|
|
| Foramen Magnum Meningioma |
|
|
| Benign Mesothelioma |
|
|
| Cerebral Falx Meningioma |
|
|
| Cellular Schwannoma |
|
|
| Glossopharyngeal Nerve Disease |
|
|
| Plexiform Neurofibroma |
|
|
| Suprasellar Meningioma |
|
|
| Cranial Nerve Malignant Neoplasm |
|
|
| Intraneural Perineurioma |
|
|
| Cavernous Sinus Meningioma |
|
|
| Purulent Labyrinthitis |
|
|
| Optic Nerve Glioma |
|
|
| Facial Paralysis |
|
|
| Facial Nerve Disease |
|
|
| Lung Meningioma |
|
|
| Small Intestine Leiomyoma |
|
|
| Secretory Meningioma |
|
|
| Epidural Spinal Canal Neoplasm |
|
|
| Rhabdoid Meningioma |
|
|
| Peritoneal Mesothelioma |
|
|
| Microcystic Meningioma |
|
|
| Tuberous Sclerosis |
|
|
| Cerebrum Cancer |
|
|
| Cerebral Ventricle Cancer |
|
|
| Cerebral Meningioma |
|
|
| Tuberculum Sellae Meningioma |
|
|
| Sella Turcica Neoplasm |
|
|
| Peritoneum Cancer |
|
|
| Melanotic Neurilemmoma |
|
|
| Myxopapillary Ependymoma |
|
|
| Supratentorial Cancer |
|
|
| Epithelioid Neurofibroma |
|
|
| Orbital Cancer |
|
|
| Sarcomatoid Renal Cell Carcinoma |
|
|
| Frontal Convexity Meningioma |
|
|
| Cerebellopontine Angle Meningioma |
|
|
| Posterior Pituitary Gland Neoplasm |
|
|
| Benign Ependymoma |
|
|
| Brain Cancer |
|
|
| Perineurioma |
|
|
| Meninges Hemangiopericytoma |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Atypical Neurofibroma |
|
|
| Pleural Cancer |
|
|
| Sarcomatoid Mesothelioma |
|
|
| Pineal Region Meningioma |
|
|
| Sveinsson Chorioretinal Atrophy |
|
|
| Spinal Cord Astrocytoma |
|
|
| Tinea Capitis |
|
|
| Petroclival Meningioma |
|
|
| Labyrinthitis |
|
|
| Supratentorial Ependymoma |
|
|
| Cranial Nerve Palsy |
|
|
| Glioblastoma |
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
|
| Sturge-Weber Syndrome |
|
|
| Obstructive Hydrocephalus |
|
|
| Rete Ovarii Benign Neoplasm |
|
|
| Rete Ovarii Adenoma |
|
|
| Central Nervous System Benign Neoplasm |
|
|
| Polyp Of Corpus Uteri |
|
|
| Pleural Disease |
|
|
| Colorectal Cancer |
|
|
| Peripheral Nervous System Neoplasm |
|
|
| Spinal Cord Disease |
|
|
| Basal Cell Nevus Syndrome |
|
|
| Sarcoid Meningitis |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
|
| Petrous Apex Meningioma |
|
|
| Cystic Fibrosis |
|
|
| Salpingitis Isthmica Nodosa |
|
|
| Cowden Syndrome |
|
|
| Otosclerosis |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Li-Fraumeni Syndrome |
|
|
| Peripheral Nervous System Disease |
|
|
| Rasopathy |
|
|
| Sensorineural Hearing Loss |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | NF2 | RGD | RGD:3169 |
| Macaca mulatta | NF2 | VGNC | VGNC:75324 |
| Bos taurus | NF2 | VGNC | VGNC:32026 |
| Felis catus | NF2 | VGNC | VGNC:80460 |
| Canis familiaris | NF2 | VGNC | VGNC:43762 |
| Mus musculus | NF2 | MGD | MGI:97307 |
| Others | NF2 | NCBI |