Gene

flcn

ID
ZDB-GENE-060421-3470
Name
folliculin
Symbol
flcn Nomenclature History
Previous Names
  • wu:fe38g11
  • zgc:136982
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of GTPase activity; and positive regulation of signal transduction. Predicted to be located in several cellular components, including cilium; lysosomal membrane; and microtubule cytoskeleton. Predicted to be active in cytosol. Is expressed in brain; hatching gland; pectoral fin bud; retina; and tail bud. Used to study Birt-Hogg-Dube syndrome. Human ortholog(s) of this gene implicated in Birt-Hogg-Dube syndrome; colorectal cancer; primary spontaneous pneumothorax; and renal cell carcinoma. Orthologous to human FLCN (folliculin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Kenyon et al., 2016
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Kenyon et al., 2016
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With flcn Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Birt-Hogg-Dube syndrome Alliance Birt-Hogg-Dube syndrome 135150
colorectal cancer Alliance Colorectal cancer, somatic 114500
nonpapillary renal cell carcinoma Alliance Renal carcinoma, chromophobe, somatic 144700
primary spontaneous pneumothorax Alliance Pneumothorax, primary spontaneous 173600
Associated With flcn Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR032035 Folliculin, C-terminal
Domain IPR037520 Folliculin/SMCR8, N-terminal
Domain IPR037521 Folliculin/SMCR8, tripartite DENN domain
Family IPR021713 Folliculin
Domain Details Per Protein
Protein Length Folliculin Folliculin, C-terminal Folliculin/SMCR8, N-terminal Folliculin/SMCR8, tripartite DENN domain
UniProtKB:F1R3E5 558
UniProtKB:Q1RLN8 558
UniProtKB:E9QIZ9 193
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations