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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FANCL Gene

protein-coding GIFtS: 67
GCID: GC02M058298

Fanconi anemia, complementation group L

(Previous name: PHD finger protein 9 )
(Previous symbol: PHF9)

Explore 27 diseases affiliated with
FANCL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fanconi Anemia, Complementation Group L¹ ²		FLJ10335¹
PHF9¹ ² ³ ⁵		Pog¹
FAAP43¹ ² ³		POG²
PHD Finger Protein 9¹ ²		E3 Ubiquitin-Protein Ligase FANCL²
Fanconi Anemia Group L Protein² ³		EC 6.3.2.-³
Fanconi Anemia-Associated Polypeptide Of 43 KDa² ³

External Ids:	HGNC: 20748¹	Entrez Gene: 55120²	Ensembl: ENSG00000115392⁷	OMIM: 608111⁵	UniProtKB: Q9NW38³

Export aliases for FANCL gene to outside databases

Previous GC identifers: GC00U912964 GC02M058360 GC02M058127

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FANCL:

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2),

FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The

previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder

characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage,

and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity;

they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for

complementation group L. Alternative splicing results in two transcript variants encoding different isoforms.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38

Function: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway.

Also mediates monoubiquitination of FANCI. 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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FANCL gene promoter:
ISGF-3 LHX3b/Lhx3b AML1a Bach2 Max FOXJ2 (long isoform) LHX3a/Lhx3a GR-alpha FOXJ2 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FANCL promoter sequence

Search SABiosciences Chromatin IP Primers for FANCL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FANCL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p16.1 Ensembl cytogenetic band: 2p16.1 HGNC cytogenetic band: 2p16.1

FANCL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FANCL gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M058298: view genomic region (about GC identifiers)

Start:	58,386,378 bp from pter	End:	58,468,515 bp from pter
Size:	82,138 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38 (See protein sequence)

Recommended Name: E3 ubiquitin-protein ligase FANCL

Size: 375 amino acids; 42905 Da

Subunit: Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC,

FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. 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. Interacts with FANCI. Interacts (via the RING-type zinc finger) with

UBE2T and UBE2W

Subcellular location: Cytoplasm. Nucleus

Caution: Although PubMed:12724401 reports that it contains a PHD-type zinc finger, it contains a RING-type zinc finger.

Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity

1 PDB 3D structure from and Proteopedia for FANCL:

3ZQS (3D)

Secondary accessions: Q6GU60

Alternative splicing: 2 isoforms: Q9NW38-1 Q9NW38-2

Explore the universe of human proteins at neXtProt for FANCL: NX_Q9NW38

Post-translational modifications:

The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NW38

FANCL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001108108.1 NP_060532.2

ENSEMBL proteins:

ENSP00000386097 ENSP00000233741 ENSP00000385021 ENSP00000384046 ENSP00000401280

ENSP00000390991 ENSP00000400969 ENSP00000389448 ENSP00000441431

Reactome Protein details: Q9NW38
Human Recombinant Protein Products for FANCL:

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	Uscn Proteins for FANCL

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005635	nuclear envelope	IEA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005737	cytoplasm	IEA	--
GO:0043240	Fanconi anaemia nuclear complex	IDA	--

FANCL for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for FANCL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FANCL for domains About GeneDecksing

4 InterPro domains/families:

IPR001841 Znf_RING

IPR019162 FancL_WD-rpt_cont_dom

IPR013083 Znf_RING/FYVE/PHD

IPR026848 Fancl

Graphical View of Domain Structure for InterPro Entry Q9NW38

ProtoNet protein and cluster: Q9NW38

1 Blocks protein family: IPB001841 Zn-finger

UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38

Domain: The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2 (PubMed:21775430)

Similarity: Contains 1 RING-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: FANCL_HUMAN, Q9NW38

Function: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway.

Also mediates monoubiquitination of FANCI. 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

Enzyme Number (IUBMB): EC 6.3.2.-¹

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004842	ubiquitin-protein ligase activity	TAS	--
GO:0005515	protein binding	--	--
GO:0008270	zinc ion binding	IEA	--
GO:0016874	ligase activity	--	--
GO:0031625	ubiquitin protein ligase binding	IPI	19111657

FANCL for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for FANCL:

Increased cell death HMECs cel

7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Fancl):

cellular	embryogenesis	endocrine/exocrine gland	growth/size	homeostasis/metabolism
mortality/aging	reproductive system

FANCL for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Fancl^tm1Ceb for FANCL

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FANCL

miRNA Products:		OriGene 3'-UTR Clone (see all 2): FANCL Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCL

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Fanconi Anemia pathway

	Fanconi Anemia pathway	1.00			BARD1 signaling events	0.23
	Fanconi's Anaemia Pathway	0.43

DNA damage ATM/ATR regulation of G1/S checkpoint

DNA damage ATM/ATR regulation of G1/S checkpoint

1.00

DNA damage_ATM/ATR regulation of G1/S checkpoint

0.98

Formation of RNA Pol II elongation complex

DNA damage_Role of Brca1 and Brca2 in DNA repair

0.17

DNA damage Role of Brca1 and Brca2 in DNA repair

0.17

Meiosis

Meiosis

1.00

BRCA1 Pathway

BRCA1 Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for FANCL

	DNA damage ATM/ATR regulation of G1/S checkpoint
	Meiosis
	DNA damage Role of Brca1 and Brca2 in DNA repair

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FANCL

	Fanconi's Anaemia Pathway
	BRCA1 Pathway

2 GeneGo (Thomson Reuters) Pathways for FANCL

	DNA damage Role of Brca1 and Brca2 in DNA repair
	DNA damage ATM/ATR regulation of G1/S checkpoint

1 BioSystems Pathway for FANCL

BARD1 signaling events

2 Reactome Pathways for FANCL

	DNA Repair
	Fanconi Anemia pathway

1 Kegg Pathway (Kegg details for FANCL):

Ubiquitin mediated proteolysis

UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38

Pathway: Protein modification; protein ubiquitination

FANCL for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FANCL

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/43 Interacting proteins for FANCL (Q9NW38^{2, 3} ENSP00000385021⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 43)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCB	Q8NB91²^,³, ENSP00000326819⁴	MINT-4789189 MINT-4789279 MINT-4789226 MINT-4789371 I2D: score=1 STRING: ENSP00000326819
FANCA	O15360²^,³, ENSP00000373952⁴	MINT-4789189 MINT-4789226 MINT-4789325 I2D: score=1 STRING: ENSP00000373952
FANCG	O15287²^,³, ENSP00000367910⁴	MINT-4789189 MINT-4789226 MINT-4789325 I2D: score=1 STRING: ENSP00000367910
C17orf70	Q0VG06²^,³, ENSP00000333283⁴	MINT-4789189 MINT-4789279 MINT-4789226 MINT-4789371 MINT-4789325 I2D: score=1 STRING: ENSP00000333283
FANCM	Q8IYD8²^,³, ENSP00000267430⁴	MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000267430

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006281	DNA repair	TAS	--
GO:0006513	protein monoubiquitination	IDA	16916645
GO:0006974	response to DNA damage stimulus	IMP	16916645
GO:0007276	gamete generation	IEA	--
GO:0016567	protein ubiquitination	--	--

FANCL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FANCL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FANCL

4 HMDB Compounds for FANCL About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--

1 Novoseek chemical compound relationship for FANCL gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mitomycin c	54.2	3	18277096 (1)

Search CenterWatch for drugs/clinical trials and news about FANCL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FANCL gene (2 alternative transcripts):

NM_001114636.1 NM_018062.3

Unigene Cluster for FANCL:

Fanconi anemia, complementation group L

Hs.631890 [show with all ESTs]

Unigene Representative Sequence: BC037570

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000403295 ENST00000233741(uc002rzw.4 uc010fce.3) ENST00000402135(uc002rzx.4)

ENST00000403676 ENST00000449070(uc010fcf.1) ENST00000446381 ENST00000470506

ENST00000427708 ENST00000417361 ENST00000481670 ENST00000540646

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Additional cDNA sequence:

AK001197.1 AK225147.1 AK297736.1 AK309671.1 BC009042.1 BC037570.1 BC041627.1 BC054517.1

18 DOTS entries:

DT.75182666 DT.448234 DT.92387226 DT.120965414 DT.92440954 DT.100783920 DT.70103087 DT.86852791

DT.92440947 DT.95279769 DT.100689663 DT.100783923 DT.120965399 DT.100026572 DT.100035558 DT.448235

DT.92440943 DT.92440944

24/129 AceView cDNA sequences (see all 129):

AI342480 BM786985 NM_018062 AK001197 CF529786 CB156727 AI085600 AA280569

AU132311 AW572256 AU133843 CA841300 AI654432 AU126989 BC037570 AA258395

AL043470 AA280291 CR597729 BC009042 BU621773 BI916786 CD105578 AA258135

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FANCL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCGGTGACGG

About this image

FANCL expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)

Bone, Cartilage, Limb

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FANCL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FANCL

SOURCE GeneReport for Unigene cluster: Hs.631890

SABiosciences Expression via Pathway-Focused PCR Array including FANCL:

Ubiquitin Ligases in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FANCL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FANCL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FANCL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCL

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCL

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for FANCL gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fancl^{1 , 5}	Fanconi anemia, complementation group L^{1, 5}	83.42(n)¹ 79.41(a)¹		11 (15.85 cM)⁵ 67030¹ NM_025923.2¹ NP_080199.1¹ 26386135⁵
chicken (Gallus gallus)	Aves	FANCL¹	Fanconi anemia, complementation group L	73.12(n) 70.84(a)		421202 NM_001033941.1 NP_001029113.1
lizard (Anolis carolinensis)	Reptilia	FANCL⁶	--	76(a)	1 ↔ 1	1(257402623-257421113)
zebrafish (Danio rerio)	Actinopterygii	fancl¹	Fanconi anemia, complementation group L	63.72(n) 59.67(a)		406255 NM_212982.1 NP_998147.1
fruit fly (Drosophila melanogaster)	Insecta	Fancl⁶	Fancl	22(a)	1 ↔ 1	3R(5877230-5878585)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G65740¹	zinc ion binding protein	45.82(n) 35.27(a)		836703 NM_001037075.2 NP_001032152.1
rice (Oryza sativa)	Liliopsida	Os03g0726900¹	hypothetical protein	47.69(n) 36.7(a)		4333972 NM_001057673.1 NP_001051138.1

ENSEMBL Gene Tree for FANCL (if available)
TreeFam Gene Tree for FANCL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17049389^1,2	C,F,H	--	58130344(+)	`TATTAT/CAGGAA`	2	--	int¹		10		NA NS EA WA	676
rs848290^1,2	C,F,O,H	--	58130462(+)	`GCAAGA/TTGTTT`	2	--	int¹		10		MN NS EA NA	866
rs56390816^1,2		--	58130491(+)	`CATATC/GATACA`	2	--	int¹		0	--	--	--	--
rs7580070^1,2	C	--	58130937(+)	`cagatC/Aaaaaa`	2	--	int¹		2		WA	120
rs75902380^1,2	C,F	--	58131092(+)	`AATCCC/ACCTGT`	2	--	int¹		1		WA	118
rs61753272^1,2	C,F	--	58131448(+)	`CCACAA/GATGTA`	4	L	syn¹		1		NA	4288
rs80193830^1,2	F	--	58131794(+)	`CAATGC/GTAGGC`	2	--	int¹		1		WA	118
rs74832762^1,2		--	58132353(+)	`AAGACC/TAACAA`	2	--	int¹		1		EA	120
rs146061251^1,2	C	--	58132742(+)	`ATAAAC/TGCAGT`	2	--	int¹		0	--	--	--	--
rs74561078^1,2	F	--	58133137(+)	`GATTTA/TCTACA`	2	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for FANCL (58386378 - 58468515 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for FANCL
5 CNVs: 89678 2386 9940 3361 8373
1 Indel: 78565
Human Gene Mutation Database (HGMD): FANCL

Locus Specific Mutation Databases (LSDB): FANCL

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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FANCL for disorders About GeneDecksing

OMIM gene information: 608111 OMIM disorders: --

UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38

Defects in FANCL are the cause of Fanconi anemia complementation group L (FANCL) [MIM:614083]. FANCL is 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

20/27 diseases for FANCL (see all 27): About MalaCards

fanconi's anemia fanconi anemia, complementation group l anemia fanconi anemia, complementation group m

fanconi anemia, complementation group b western equine encephalitis hard palate cancer brain stem glioma

mutism breast cancer susceptibility bloom syndrome breast cancer

squamous cell carcinoma leukopenia hereditary pancreatitis ependymoma

skin cancer encephalitis cervical cancer cervicitis

4 diseases from the University of Copenhagen DISEASES database for FANCL:

Bone marrow disease Anemia Mutism Western equine encephalitis

4 Novoseek disease relationships for FANCL gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fanconis anemia	94.2	4	16916645 (1), 16116424 (1), 19405097 (1), 19861535 (1)
hnscc	53.5	2	17409780 (1), 16466850 (1)
cancer	24	1	19861535 (1)
breast cancer	17.9	1	19536649 (1)

GeneTests: FANCL

Fanconi Anemia

Human Genome Epidemiology (HuGE) Navigator: FANCL (6 documents)

Export disorders for FANCL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FANCL gene, integrated from 9 sources (see all 64):
(articles sorted by number of sources associating them with FANCL)

Utopia: connect your pdf to the dynamic
world of online information

Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. (PubMed id 19111657)^{1, 2, 9} Alpi A.F....Patel K.J. (2008)
UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation. (PubMed id 16916645)^{1, 2, 9} Machida Y.J....Dutta A. (2006)
Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway. (PubMed id 21775430)^{1, 2} Hodson C.... Walden H. (2011)
FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL. (PubMed id 19589784)^{1, 2} Longerich S....Sung P. (2009)
HES1 is a novel interactor of the Fanconi anemia core complex. (PubMed id 18550849)^{1, 2} Tremblay C.S....Carreau M. (2008)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)^{1, 2} Meetei A.R....Wang W. (2005)
X-linked inheritance of Fanconi anemia complementation group B. (PubMed id 15502827)^{1, 2} Meetei A.R....Joenje H. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55120	HGNC: 20748	AceView: FANCL	Ensembl:ENSG00000115392	euGenes: HUgn55120
ECgene: FANCL	Kegg: 55120	H-InvDB: FANCL

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FANCL	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for FANCL	Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database	http://www.rockefeller.edu/fanconi/mutate/jumpl.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCL

Intellectual Property for FANCL gene
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Patent Information for FANCL gene:
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GeneCards and IP:
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Fanconi anemia, complementation group L

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FANCL Gene

Fanconi anemia, complementation group L

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