Fancl
Gene Detail

Symbol Name ID

Fancl Fanconi anemia, complementation group L MGI:1914280

Synonyms

2010322C19Rik, B230118H11Rik, gcd, Phf9, Pog

Feature Type

protein coding gene

Genetic Map

Chromosome 11

15.85 cM, cytoband A2-A3
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr11:26386135-26471876 bp, + strand From VEGA annotation of GRCm38   85742 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:9987  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Fancl

Human homologs

Human Homolog		FANCL, Fanconi anemia, complementation group L
NCBI Gene ID		55120
neXtProt AC		NX_Q9NW38
Human Synonyms		FAAP43, PHF9, POG
Human Chr (Location)		2p16.1; chr2:58386378-58468515 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human FANCL

Alleles and phenotypes

All alleles(11) : Targeted(3) Gene trapped(7) Transgenic(1)
 

Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds.

 
Human Diseases Modeled Using Mouse Fancl (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (19 annotations)

Process	DNA repair, gamete generation, ...
Component	cytoplasm, Fanconi anaemia nuclear complex, ...
Function	ligase activity, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (71)    Tissues (16)    Images (19)
Theiler Stages: 2, 3, 17, 22, 23, 28

Assay Type	Results
RNA in situ	26
RT-PCR	45

cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(22) cDNA(19) Primer pair(2) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000008088 (Evidence)
Ensembl Gene Model	ENSMUSG00000004018 (Evidence)
Entrez Gene	67030 (Evidence)
NIA Mouse Gene Index	U012397
EC	6.3.2.-
Consensus CDS Project	CCDS24485.1
International Mouse Knockout Project Status	Fancl

Sequences

Length	Strain/Species
genomic	OTTMUSG00000008088	VEGA Gene Model | MGI Sequence Detail	85742	C57BL/6J
transcript	OTTMUST00000018377	VEGA | MGI Sequence Detail	2724	Not Applicable
polypeptide	OTTMUSP00000008445	VEGA | MGI Sequence Detail	375	Not Applicable

All sequences(47) RefSeq(5) UniProt(3)

Polymorphisms

SNPs(121 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR026848	E3 ubiquitin-protein ligase FANCL
InterPro	IPR019162	Fanconi anemia complex, subunit FancL, WD-repeat containing domain
InterPro	IPR013083	Zinc finger, RING/FYVE/PHD-type
InterPro	IPR001841	Zinc finger, RING-type
Protein Ontology	PR:000007338	E3 ubiquitin-protein ligase FANCL

References

(Earliest) J:21254 Pellas TC, et al., Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8787-91
(Latest) J:193641 Nakano Y, et al., A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. PLoS Genet. 2012;8(10):e1002966
All references(43)

Other accession IDs

MGD-MRK-10019, MGI:1926122, MGI:2144571, MGI:95673