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Protein Coding Gene : Fancl Fanconi anemia, complementation group L

Primary Identifier  MGI:1914280 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  67030
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables ubiquitin protein ligase activity. Acts upstream of or within gamete generation and regulation of cell population proliferation. Located in nuclear envelope. Is expressed in several structures, including early embryo; gonad; heart; lung; and telencephalon ventricular layer. Used to study 46 XX gonadal dysgenesis. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group L. Orthologous to human FANCL (FA complementation group L).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • B230118H11Rik,
  • MGD-MRK-10019,
  • RIKEN cDNA 2010322C19 gene,
  • Fancl,
  • RIKEN cDNA B230118H11 gene,
  • Fanconi anemia, complementation group L,
  • MGI:2144571,
  • Pog,
  • MGI:95673,
  • MGI:1926122,
  • gcd,
  • AW554273,
  • Phf9,
  • 2010322C19Rik,
  • expressed sequence AW554273,
  • germ cell deficient,
  • PHD finger protein 9

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

7 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For