Gene Gene information from NCBI Gene database.
Entrez ID 201163
Gene name Folliculin
Gene symbol FLCN
Synonyms (NCBI Gene)
BHDDENND8BFLCL
Chromosome 17
Chromosome location 17p11.2
Summary This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splici
SNPs SNP information provided by dbSNP.
173
SNP ID Visualize variation Clinical significance Consequence
rs41419545 C>A,T Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, uncertain-significance Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs78683075 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, not-provided Non coding transcript variant, missense variant, coding sequence variant
rs80338682 G>-,GG Pathogenic Intron variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs137852929 G>A,C,T Pathogenic, likely-benign Stop gained, coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs137852930 G>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
502
miRTarBase ID miRNA Experiments Reference
MIRT026994 hsa-miR-103a-3p Sequencing 20371350
MIRT031444 hsa-miR-16-5p Sequencing 20371350
MIRT040311 hsa-miR-615-3p CLASH 23622248
MIRT518538 hsa-miR-548u PAR-CLIP 20371350
MIRT518537 hsa-miR-7161-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
99
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 21209915
GO:0001701 Process In utero embryonic development IEA
GO:0001701 Process In utero embryonic development ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607273 27310 ENSG00000154803
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFG4
Protein name Folliculin (BHD skin lesion fibrofolliculoma protein) (Birt-Hogg-Dube syndrome protein)
Protein function Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:31672913, PubMed:3170402
PDB 3V42 , 6NZD , 6ULG , 8DHB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11704 Folliculin 104 265 Vesicle coat protein involved in Golgi to plasma membrane transport Family
PF16692 Folliculin_C 344 566 Folliculin C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. {ECO:0000269|PubMed:12204536}.
Sequence
Sequence length 579
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Renal cell carcinoma
  Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5626
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
17p11.2 microduplication syndrome Likely pathogenic; Pathogenic rs398124530, rs587782069, rs80338682, rs786203218, rs758175953, rs879255678, rs886039370, rs1131690833, rs1131690841, rs758385503 RCV002505009
RCV002498642
RCV002490302
RCV002498825
RCV000762981
RCV000762980
RCV002479990
RCV002496889
RCV002481559
RCV001197006
Birt-Hogg-Dube syndrome Pathogenic; Likely pathogenic rs398124523, rs398124524, rs398124525, rs398124526, rs398124527, rs398124528, rs398124529, rs398124530, rs398124533, rs398124534, rs398124535, rs398124536, rs398124538, rs398124539, rs398124541
View all (256 more)
RCV003326120
RCV000635546
RCV000691870
RCV000807361
RCV000703847
RCV000796649
RCV000239713
RCV000239664
RCV000239670
RCV000239648
RCV000239674
RCV000239717
RCV000133394
RCV001854441
RCV000239720
RCV000239656
RCV001379564
RCV001390199
RCV001384375
RCV001386118
RCV001385607
RCV001390959
RCV001384269
RCV001380875
RCV001384024
RCV001387218
RCV003450179
RCV001384858
RCV001380279
RCV001384571
RCV001380023
RCV001380040
RCV001533142
RCV001553626
RCV001779546
RCV001897169
RCV002049690
RCV001941786
RCV001950929
RCV001953906
RCV002035372
RCV002000020
RCV002038045
RCV001951088
RCV001958597
RCV001956353
RCV001972808
RCV002000839
RCV002039408
RCV001907594
RCV001899744
RCV001953597
RCV001901629
RCV001938113
RCV001963303
RCV001922269
RCV005089641
RCV000239654
RCV002289429
RCV002290146
RCV000635567
RCV000155908
RCV002308476
RCV003326161
RCV003326164
RCV003607522
RCV000003529
RCV000003531
RCV000003534
RCV000239626
RCV003326113
RCV003326114
RCV003607274
RCV001219608
RCV000239623
RCV000239714
RCV003058530
RCV002681653
RCV002765625
RCV002790426
RCV002816252
RCV002880236
RCV002853446
RCV003029680
RCV003046718
RCV003052484
RCV000204355
RCV000239690
RCV001244466
RCV000239675
RCV000475095
RCV000537263
RCV000239668
RCV003140377
RCV003140390
RCV000230210
RCV000228856
RCV000226049
RCV000231805
RCV000233680
RCV000230881
RCV000230001
RCV000233508
RCV003500521
RCV000239662
RCV000239620
RCV000239694
RCV000239621
RCV000239692
RCV000239647
RCV000239688
RCV000239711
RCV000239684
RCV000239639
RCV000239636
RCV000239706
RCV000239666
RCV000239660
RCV000239618
RCV000239723
RCV000239698
RCV000239679
RCV000239633
RCV000239718
RCV000239672
RCV000239628
RCV000239615
RCV000239710
RCV000239695
RCV000239708
RCV000812531
RCV001389700
RCV001383231
RCV003326168
RCV003326169
RCV003316953
RCV003316956
RCV003326170
RCV003326242
RCV003326243
RCV003326244
RCV003326245
RCV003326246
RCV003326247
RCV003326248
RCV003326249
RCV003326250
RCV003326251
RCV003326252
RCV003326253
RCV003326254
RCV003326255
RCV003326257
RCV003326258
RCV003326259
RCV003326260
RCV003326261
RCV003326262
RCV003326263
RCV003326264
RCV003326265
RCV003326266
RCV003326267
RCV003326268
RCV003326269
RCV003326270
RCV003326271
RCV003326272
RCV003326273
RCV003326274
RCV003326275
RCV003326276
RCV003326277
RCV003326279
RCV003326280
RCV003326281
RCV003326282
RCV003326283
RCV003326284
RCV003334782
RCV003607592
RCV003461591
RCV003450160
RCV003450165
RCV003450203
RCV003450204
RCV003450205
RCV003500862
RCV003501093
RCV003501163
RCV003501164
RCV003501728
RCV003500334
RCV003607813
RCV003607854
RCV003607840
RCV003608165
RCV003608323
RCV003608297
RCV003608347
RCV003607099
RCV003847427
RCV003316520
RCV000258912
RCV003607282
RCV003500528
RCV000475965
RCV000473630
RCV000470306
RCV000461846
RCV000468103
RCV000459716
RCV000702300
RCV005090932
RCV000635570
RCV001064850
RCV000690635
RCV001851346
RCV001044760
RCV000817465
RCV005091030
RCV001390960
RCV001390961
RCV003316643
RCV005091031
RCV001856948
RCV002523985
RCV000815117
RCV001390962
RCV000696880
RCV000989762
RCV000496097
RCV003449394
RCV001208051
RCV001386655
RCV003500542
RCV002527611
RCV000550577
RCV000530010
RCV000549849
RCV003500565
RCV005091424
RCV001217705
RCV000807381
RCV000635547
RCV000635552
RCV000635553
RCV000635535
RCV003500586
RCV002531427
RCV000698319
RCV000685151
RCV000692108
RCV000692102
RCV000685150
RCV000697842
RCV001048163
RCV001855937
RCV001855939
RCV003500601
RCV000806769
RCV000822765
RCV000814030
RCV000820246
RCV000797126
RCV000816840
RCV000811522
RCV000799523
RCV000804949
RCV002267628
RCV003607382
RCV001029847
RCV001071417
RCV001071000
RCV001036238
RCV001048781
RCV001063466
RCV001048645
RCV001040528
RCV001217352
RCV001202618
RCV001204020
RCV001206966
RCV001212592
RCV001234310
RCV001236967
RCV001880199
RCV001297304
RCV001295990
RCV001310193
Birt-Hogg-Dube syndrome 1 Likely pathogenic; Pathogenic rs398124533, rs398124534, rs2046880504, rs2145049426, rs2144896021, rs2144858986, rs587782069, rs368778627, rs2544250574, rs80338682, rs137852929, rs750146811, rs878854340, rs786203218, rs2544145845
View all (27 more)
RCV005003458
RCV005007995
RCV005867002
RCV005423982
RCV005016733
RCV005868493
RCV005437969
RCV004567166
RCV005421276
RCV004760319
RCV004566678
RCV004786235
RCV005415338
RCV005600876
RCV004567302
RCV004064990
RCV005003569
RCV004567762
RCV005361466
RCV005620931
RCV004020988
RCV004591103
RCV005016650
RCV005008214
RCV004786636
RCV005246921
RCV004020987
RCV004020986
RCV005361499
RCV005249499
RCV005621253
RCV004442566
RCV004589270
RCV004589367
RCV005600942
RCV005620951
RCV005010408
RCV004568618
RCV004796200
RCV004591460
RCV004792533
RCV003883529
RCV005601736
Carcinoma of colon Likely pathogenic; Pathogenic rs758175953, rs879255678 RCV000762981
RCV000762980
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs41442248, rs7218992 RCV005924943
RCV005894586
Colon adenocarcinoma Conflicting classifications of pathogenicity rs370353839 RCV005899481
Exstrophy-epispadias complex Uncertain significance rs752108683 RCV003389413
Familial cancer of breast Likely benign; Conflicting classifications of pathogenicity rs147687712, rs199643834 RCV005917582
RCV005888952
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26974543
Adenomatous Polyposis Coli Associate 22790147
Apraxias Associate 27120335
Asthma Associate 29147010
Asthma Occupational Associate 29147010
Birt Hogg Dube Syndrome Associate 12471204, 15657874, 15852235, 17124507, 17611575, 18403135, 18437022, 18579543, 19116017, 19562744, 19850877, 20413710, 21162720, 21412933, 22146830
View all (80 more)
Birt Hogg Dube Syndrome Inhibit 27559131
Blister Associate 15657874
Brain Neoplasms Associate 36382415
Breast Neoplasms Associate 30360018