Flcn
Gene Detail

Symbol Name ID

Flcn folliculin MGI:2442184

Synonyms

B430214A04Rik, BHD

Feature Type

protein coding gene

Genetic Map

Chromosome 11

37.79 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr11:59791408-59810016 bp, - strand From VEGA annotation of GRCm38   18609 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:14583  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Flcn

Human homologs

Human Homolog		FLCN, folliculin
NCBI Gene ID		201163
neXtProt AC		NX_Q8NFG4
Human Synonyms		BHD, FLCL
Human Chr (Location)		17p11.2; chr17:17115526-17140502 (-)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human FLCN

Alleles and phenotypes

All alleles(19) : Targeted(7) Gene trapped(12)
 

Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors.

 
Human Diseases Modeled Using Mouse Flcn (1)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (50 annotations)

Process	cell-cell junction assembly, hemopoiesis, ...
Component	cell-cell contact zone, cytoplasm, ...
Function	protein complex binding

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (58)    Tissues (41)    Images (18)
Theiler Stages: 7, 9, 10, 11, 12, 13, 15, 17, 20, 26, 28

Assay Type	Results
Immunohistochemistry	1
RNA in situ	25
In situ reporter (knock in)	2
Western blot	9
RT-PCR	21

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(14) cDNA(12) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000008092 (Evidence)
Ensembl Gene Model	ENSMUSG00000032633 (Evidence)
Entrez Gene	216805 (Evidence)
DFCI	TC1572046, TC1649293, TC1673926
DoTS	DT.101207350, DT.101339522, DT.101360832, DT.110533381, DT.110533438, DT.492574, DT.94218757, DT.99859685
NIA Mouse Gene Index	U032856
Consensus CDS Project	CCDS24777.1
International Mouse Knockout Project Status	Flcn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000008092	VEGA Gene Model | MGI Sequence Detail	18609	C57BL/6J
transcript	OTTMUST00000018400	VEGA | MGI Sequence Detail	3437	Not Applicable
polypeptide	OTTMUSP00000008459	VEGA | MGI Sequence Detail	579	Not Applicable

All sequences(74) RefSeq(7) UniProt(2)

Polymorphisms

SNPs(42 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR021713	Folliculin
Protein Ontology	PR:000007550	folliculin

References

(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:196228 Nahorski MS, et al., Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Hum Mol Genet. 2012 Dec 15;21(24):5268-79
All references(41)

Other accession IDs

MGI:2144365