QuickView for merlin (gene)

Gene Symbol:

NF2 Homo sapiens

Full name:

neurofibromin 2

Synonyms:

ACN, BANF, SCH, merlin, moesin-ezrin-radixin like, moesin-ezrin-radixin-like protein, moesin-ezrin-radizin-like protein, neurofibromin 2 (bilateral acoustic neuroma), schwannomerlin, schwannomin

Genomic Location:

Chr 22: 28329565-28424587

Description:

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 regulatin...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  ATAAGCT_MIR21 ,  SMTTTTGT_UNKNOWN ,  GATA1_03 ,  GCATTTG_MIR105 ,  TTTTGAG_MIR373 ,  YYCATTCAWW_UNKNOWN ,  CTCAAGA_MIR526B ,  GGGCGGR_SP1_Q6 ,  ATGTTTC_MIR494 ,  CCCNNGGGAR_OLF1_01 ,  ACTGCAG_MIR173P ,  GAGCCAG_MIR149 ,  TGCTTTG_MIR330 ,  AGGGCAG_MIR18A ,  TGACAGNY_MEIS1_01 ,  ZF5_B ,  AACTTT_UNKNOWN ,  TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497 ,  PAX4_01

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miRNA binding sites
(Source: miRecords):

hsa-let-7a Targeted Genes

Cytogenetic Map:

22q12.2

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