|
|
||
|
|
||
| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 201163 |
Name | FLCN |
Synonym | BHD|FLCL;folliculin;FLCN;folliculin |
Definition | BHD skin lesion fibrofolliculoma protein|birt-Hogg-Dube syndrome protein |
Position | 17p11.2 |
Gene Type | protein-coding |
Source | Count: 3; Pubmed_search,Generif,UniProt |
Literature support | Count: 4 PubMed records as below. |
|
Evidence Status |
Description |
reviewed | Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. |
reviewed | FLCN tumor suppressor gene inactivation induces TFE3 transcriptional activity by increasing its nuclear localization. |
reviewed | These results support a role for BHD as a tumor suppressor gene that predisposes to the development of renal tumors when both copies are inactivated. |
potential | potential role of BHD as a tumor suppressor gene (review). |
| More detail of all 4 literatures about FLCN | |
|
Pathways and Diseases |
|
Pathway | Renal cell carcinoma;KEGG PATHWAY;hsa05211 |
Disease | Renal Cell cancer;FunDO |
Disease | Cancers;KEGG DISEASE |
Disease | Pneumothorax, primary spontaneous;OMIM |
Disease | Renal carcinoma, chromophobe, somatic;OMIM |
Disease | Cancers of the urinary system and male genital organs;KEGG DISEASE |
Disease | Colorectal cancer, somatic;OMIM |
Disease | Birt-Hogg-Dube syndrome;OMIM |
Disease | Respiratory tract disease;FunDO |
Disease | Stomach cancer;FunDO |
Disease | Renal cell carcinoma;KEGG DISEASE;H00021 |
|
External Links |
|
Links to Entrez Gene | 201163 |
Links to all GeneRIF Items | 201163 |
Links to iHOP | 201163 |
|
Sequence Information |
|
Nucleotide Sequence |
>201163 : length: 1029 atgaatgccatcgtggctctctgccacttctgcgagctccacggcccccgcactctcttc tgcacggaggtgctgcacgccccacttcctcaaggggatgggaatgaggacagtcctggc cagggtgagcaggcggaagaagaggaaggtggcattcagatgaacagtcggatgcgtgcg cacagccccgcagagggggccagcgtcgagtccagcagcccggggcccaaaaagtcggac atgtgcgagggctgccggtcacttgctgcagggcacccgggatatatcagccatgataaa gagacctccattaaatacgtcagccaccagcaccccagccacccccagctcttcagcatt gtccgccaggcctgtgtccggagcctgagctgtgaggtctgccctggccgtgaaggcccc atcttcttcggagatgagcagcacggctttgtgttcagccacaccttcttcatcaaggac agcctggccaggggcttccagcgctggtacagcatcatcaccatcatgatggaccggatc tacctcatcaactcctggcccttcctgctggggaaggtccggggaatcatcgatgagctc cagggcaaggcgctcaaggtgtttgaggcagagcagtttggatgcccacagcgtgctcag aggatgaacacagccttcacgccattcctacaccagaggaacggcaacgccgcccgctcg ctgacatcgctgacaagtgatgacaacctgtgggcgtgcctgcacacctcctttgcctgg ctcctgaaggcgtgtggcagccggctgaccgagaagctcctggaaggtgctccgaccgag gataccttggtccagatggagaagctcgctggtgaggcaggggtgctgttgccggggcct tggcccggatggccgtggggcggtaccagctgtctgctctcctggcaggaatcgctgagg gagggaaacgcggctctgaatcagcccagaacgagccttcgggaagctcaccctccgatc tcggtgtga |
Protein Sequence |
>201163 : length: 342 MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQAEEEEGGIQMNSRMRA HSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHDKETSIKYVSHQHPSHPQLFSI VRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRI YLINSWPFLLGKVRGIIDELQGKALKVFEAEQFGCPQRAQRMNTAFTPFLHQRNGNAARS LTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEGAPTEDTLVQMEKLAGEAGVLLPGP WPGWPWGGTSCLLSWQESLREGNAALNQPRTSLREAHPPISV |