This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetical... See more...

Aliases for FANCL Gene

Aliases for FANCL Gene

  • FA Complementation Group L 2 3 5
  • FAAP43 2 3 4
  • Fanconi Anemia-Associated Polypeptide Of 43 KDa 3 4
  • RING-Type E3 Ubiquitin Transferase FANCL 3 4
  • Fanconi Anemia Complementation Group L 2 3
  • E3 Ubiquitin-Protein Ligase FANCL 3 4
  • Fanconi Anemia Group L Protein 3 4
  • PHD Finger Protein 9 2 3
  • PHF9 3 4
  • EC 2.3.2.27 4
  • FLJ10335 2
  • FANCL 5
  • POG 3
  • Pog 2

External Ids for FANCL Gene

Previous HGNC Symbols for FANCL Gene

  • PHF9

Previous GeneCards Identifiers for FANCL Gene

  • GC00U912964
  • GC02M058360
  • GC02M058298

Summaries for FANCL Gene

Entrez Gene Summary for FANCL Gene

  • This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]

GeneCards Summary for FANCL Gene

FANCL (FA Complementation Group L) is a Protein Coding gene. Diseases associated with FANCL include Fanconi Anemia, Complementation Group L and Vacterl Association. Among its related pathways are DNA Double-Strand Break Repair and BRCA1 Pathway. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot Summary for FANCL Gene

  • Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.

Gene Wiki entry for FANCL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FANCL Gene

Genomics for FANCL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FANCL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J058237 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.4 1375 3.4 MYC ZNF600 IKZF1 SSRP1 ZNF592 KLF9 POLR2A CEBPA ZNF10 NFIC ENSG00000273063 FANCL VRK2 lnc-BCL11A-17
GH02J058044 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 +195.0 194958 4.5 BCLAF1 SP1 NCOR1 MYC ZNF600 SSRP1 ZNF592 KLF9 POLR2A ZSCAN16 VRK2 ENSG00000287875 LOC107984043 FANCL lnc-FANCL-1
GH02J058427 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 -186.8 -186837 2.6 POLR2A REST ZNF341 SIN3A MAFF YY1 MAFK ZNF189 NRF1 TAF1 LINC01122 FANCL LOC644456 ENSG00000231043 HSALNG0015126
GH02J057759 Enhancer 1.4 UCNEbase ENCODE CraniofacialAtlas 10.2 +481.6 481619 1.3 ZNF207 ZNF654 ZNF600 CTCF REST ZNF592 KLF11 SIN3A TRIM22 SMAD4 FANCL EIF3FP3 ACTG1P22 lnc-VRK2-10 HSALNG0015104 ENSG00000285755 HSALNG0015087 VRK2
GH02J058203 Enhancer 1 Ensembl ENCODE 11.6 +37.3 37311 1.1 CEBPA CHD4 MXD4 FEZF1 HOMEZ THAP11 FOXA2 KDM6A SMAD4 ZNF511 VRK2 FANCL HSALNG0015120 piR-41141-016
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FANCL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCL

Top Transcription factor binding sites by QIAGEN in the FANCL gene promoter:
  • AML1a
  • Bach2
  • c-Myc
  • FOXJ2
  • FOXJ2 (long isoform)
  • GR-alpha
  • ISGF-3
  • Lhx3a
  • LHX3b
  • Max

Genomic Locations for FANCL Gene

Latest Assembly
chr2:58,159,243-58,241,681
(GRCh38/hg38)
Size:
82,439 bases
Orientation:
Minus strand

Previous Assembly
chr2:58,386,378-58,468,515
(GRCh37/hg19 by Entrez Gene)
Size:
82,138 bases
Orientation:
Minus strand

chr2:58,386,378-58,468,507
(GRCh37/hg19 by Ensembl)
Size:
82,130 bases
Orientation:
Minus strand

Genomic View for FANCL Gene

Genes around FANCL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FANCL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCL Gene

Proteins for FANCL Gene

  • Protein details for FANCL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NW38-FANCL_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase FANCL
    Protein Accession:
    Q9NW38
    Secondary Accessions:
    • Q6GU60

    Protein attributes for FANCL Gene

    Size:
    375 amino acids
    Molecular mass:
    42905 Da
    Quaternary structure:
    • Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM (PubMed:12973351, PubMed:15502827, PubMed:16116422, PubMed:22343915). The complex is not found in FA patients. In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins (PubMed:18550849). Interacts with FANCI (PubMed:21775430). Directly interacts (via the RING-type zinc finger) with UBE2T and UBE2W (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:21775430, PubMed:24389026).

    Three dimensional structures from OCA and Proteopedia for FANCL Gene

    Alternative splice isoforms for FANCL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANCL Gene

Post-translational modifications for FANCL Gene

  • The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.
  • Ubiquitination at Lys49 and Lys369
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for FANCL
  • Boster Bio Antibodies for FANCL

No data available for DME Specific Peptides for FANCL Gene

Domains & Families for FANCL Gene

Gene Families for FANCL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for FANCL Gene

Suggested Antigen Peptide Sequences for FANCL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51649, highly similar to Ubiquitin ligase protein FANCL (EC 6.3.2.-) (B4DN24_HUMAN)
  • Fanconi anemia-associated polypeptide of 43 kDa (FANCL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NW38

UniProtKB/Swiss-Prot:

FANCL_HUMAN :
  • The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.
Domain:
  • The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.
genes like me logo Genes that share domains with FANCL: view

Function for FANCL Gene

Molecular function for FANCL Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:16916645, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784};.

Enzyme Numbers (IUBMB) for FANCL Gene

Phenotypes From GWAS Catalog for FANCL Gene

Gene Ontology (GO) - Molecular Function for FANCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA,ISS --
GO:0005515 protein binding IPI 24389026
GO:0016740 transferase activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 16916645
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FANCL: view
genes like me logo Genes that share phenotypes with FANCL: view

Human Phenotype Ontology for FANCL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCL Gene

MGI Knock Outs for FANCL:
  • Fancl Fancl<tm1b(EUCOMM)Hmgu>
  • Fancl Fancl<tm1Ceb>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCL

No data available for Transcription Factor Targets and HOMER Transcription for FANCL Gene

Localization for FANCL Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCL Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCL gene
Compartment Confidence
nucleus 5
cytoskeleton 2
mitochondrion 2
cytosol 2
golgi apparatus 2
plasma membrane 1
extracellular 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FANCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005635 nuclear envelope IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with FANCL: view

Pathways & Interactions for FANCL Gene

PathCards logo

SuperPathways for FANCL Gene

SuperPathway Contained pathways
1 Fanconi anemia pathway
2 BRCA1 Pathway
.01
-
3 Ubiquitin mediated proteolysis
4 DNA Double-Strand Break Repair
5 DNA damage_ATM/ATR regulation of G1/S checkpoint
-
genes like me logo Genes that share pathways with FANCL: view

Pathways by source for FANCL Gene

1 BioSystems pathway for FANCL Gene
2 Reactome pathways for FANCL Gene
2 GeneGo (Thomson Reuters) pathways for FANCL Gene
  • DNA damage_ATM/ATR regulation of G1/S checkpoint
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
2 Qiagen pathways for FANCL Gene
  • BRCA1 Pathway
  • Fanconi's Anaemia Pathway

UniProtKB/Swiss-Prot Q9NW38-FANCL_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for FANCL Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for FANCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IBA,IMP 16916645
GO:0006513 protein monoubiquitination IDA 16916645
GO:0006974 cellular response to DNA damage stimulus IMP 16916645
GO:0007276 gamete generation IEA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with FANCL: view

Drugs & Compounds for FANCL Gene

(4) Drugs for FANCL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for FANCL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with FANCL: view

Transcripts for FANCL Gene

mRNA/cDNA for FANCL Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCL

Alternative Splicing Database (ASD) splice patterns (SP) for FANCL Gene

No ASD Table

Relevant External Links for FANCL Gene

GeneLoc Exon Structure for
FANCL

Expression for FANCL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FANCL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FANCL Gene

This gene is overexpressed in Plasma (55.3) and Bone marrow stromal cell (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FANCL Gene



Protein tissue co-expression partners for FANCL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCL

SOURCE GeneReport for Unigene cluster for FANCL Gene:

Hs.631890

Evidence on tissue expression from TISSUES for FANCL Gene

  • Nervous system(4.8)
  • Eye(4.2)
  • Kidney(2.3)
  • Intestine(2.3)
  • Skin(2.3)
  • Lung(2.1)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FANCL: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FANCL Gene

Orthologs for FANCL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FANCL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FANCL 29 30
  • 99.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FANCL 29 30
  • 91.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FANCL 29 30
  • 90.44 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fancl 29 16 30
  • 83.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FANCL 30
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fancl 29
  • 82.53 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FANCL 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FANCL 29 30
  • 73.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FANCL 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fancl 29
  • 68.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii fancl 29 30
  • 63.72 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2422 29
Fruit Fly
(Drosophila melanogaster)
Insecta Fancl 30
  • 22 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G65740 29
  • 45.82 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0726900 29
  • 47.99 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
OneToOne
Species where no ortholog for FANCL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FANCL Gene

ENSEMBL:
Gene Tree for FANCL (if available)
TreeFam:
Gene Tree for FANCL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FANCL: view image
Alliance of Genome Resources:
Additional Orthologs for FANCL

Paralogs for FANCL Gene

No data available for Paralogs for FANCL Gene

Variants for FANCL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCL Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1000349 Uncertain Significance: Fanconi anemia 58,165,736(-) T/C
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1011259 Uncertain Significance: Fanconi anemia 58,241,212(-) G/A
NM_018062.4(FANCL):c.96+6C>T
INTRON
1011875 Uncertain Significance: Fanconi anemia 58,221,997(-) G/A
NM_018062.4(FANCL):c.319C>T (p.Pro107Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1019750 Uncertain Significance: Fanconi anemia 58,163,424(-) G/C
NM_018062.4(FANCL):c.775+10C>G
INTRON
1019755 Uncertain Significance: Fanconi anemia 58,221,939(-) T/C
NM_018062.4(FANCL):c.374+3A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FANCL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FANCL Gene

Variant ID Type Subtype PubMed ID
esv2662829 CNV deletion 23128226
esv3590956 CNV loss 21293372
esv3590957 CNV loss 21293372
nsv457985 CNV gain 19166990
nsv458052 CNV loss 19166990
nsv525988 CNV gain 19592680
nsv582086 CNV gain 21841781
nsv582098 CNV loss 21841781
nsv817995 CNV loss 17921354

Variation tolerance for FANCL Gene

Residual Variation Intolerance Score: 87.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FANCL Gene

Human Gene Mutation Database (HGMD)
FANCL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCL
Leiden Open Variation Database (LOVD)
FANCL

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCL Gene

Disorders for FANCL Gene

MalaCards: The human disease database

(27) MalaCards diseases for FANCL Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FANCL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FANCL_HUMAN
  • Fanconi anemia complementation group L (FANCL) [MIM:614083]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:12973351}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FANCL

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FANCL: view

No data available for Genatlas for FANCL Gene

Publications for FANCL Gene

  1. Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. (PMID: 19111657) Alpi AF … Patel KJ (Molecular cell 2008) 3 4 22
  2. UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation. (PMID: 16916645) Machida YJ … Dutta A (Molecular cell 2006) 3 4 22
  3. Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. (PMID: 25754594) Vetro A … Zuffardi O (Human mutation 2015) 3 72
  4. Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection. (PMID: 24389026) Hodson C … Walden H (Structure (London, England : 1993) 2014) 3 4
  5. FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway. (PMID: 22343915) Ali AM … Meetei AR (Blood 2012) 3 4

Products for FANCL Gene

Sources for FANCL Gene