Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55120
Gene name Gene Name - the full gene name approved by the HGNC.	FA complementation group L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FANCL
Synonyms (NCBI Gene) Gene synonyms aliases	FAAP43, PHF9, POG
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p16.1
Summary Summary of gene provided in NCBI Entrez 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 p

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144729980	C>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs753105795	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, intron variant
rs761039364	G>-,GG	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs779544327	TT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs869320684	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs869320685	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs878855046	ACCAGAAGCATCT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1205006300	C>A	Likely-pathogenic	Splice donor variant, intron variant
rs1558741321	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant

Show/Hide all(8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT727691	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727690	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727688	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727689	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727687	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT2530840	hsa-miR-3161	CLIP-seq
MIRT2530841	hsa-miR-4775	CLIP-seq
MIRT2530842	hsa-miR-590-3p	CLIP-seq

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	16916645, 19111657
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005515	Function	Protein binding	IPI	24389026, 25416956, 32296183, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	16916645
GO:0006513	Process	Protein monoubiquitination	IBA
GO:0006513	Process	Protein monoubiquitination	IDA	16916645, 24389026
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	16916645
GO:0007276	Process	Gamete generation	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16916645, 17938197, 19111657
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22343915
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	19589784
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
608111	20748	ENSG00000115392

Protein

UniProt ID

Q9NW38

Protein name

E3 ubiquitin-protein ligase FANCL (EC 2.3.2.27) (Fanconi anemia group L protein) (Fanconi anemia-associated polypeptide of 43 kDa) (FAAP43) (RING-type E3 ubiquitin transferase FANCL)

Protein 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 monoubiquitin

PDB

3ZQS , 4CCG , 7KZP , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09765	FANCL_d1	5 → 93	FANCL UBC-like domain 1	Domain
PF18890	FANCL_d2	108 → 197	FANCL UBC-like domain 2	Domain
PF18891	FANCL_d3	199 → 295	FANCL UBC-like domain 3	Domain
PF11793	FANCL_C	303 → 371	FANCL C-terminal domain	Domain

Sequence

MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLR
TILSGYHRIVQQRMQHSPDLMSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGT
LGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQ
SSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEV
DPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEK
SDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECP
YCSKPITLKMSGRKH

Sequence length

375

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway Ubiquitin mediated proteolysis		Fanconi Anemia Pathway

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fanconi Anemia	Fanconi anemia complementation group L, fanconi anemia	rs869320684, rs753105795, rs756487177, rs1558737575, rs761291501, rs761039364, rs1685514075, rs869320685, rs144729980, rs1205006300, rs878855046, rs1558727300, rs529201454, rs1553435610, rs1553433429, rs1573518300 View all (1 more)	N/A
VACTERL ASSOCIATION	vater association	rs869320684	N/A
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS	vacterl association, x-linked, with or without hydrocephalus	rs869320685	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hypertension	Hypertension	N/A	N/A	GWAS

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	39519399
Anemia Hemolytic	Associate	30942098, 36894310
Bone Marrow Failure Disorders	Associate	37327301
Bronchopulmonary Dysplasia	Associate	32091150
Carcinogenesis	Associate	32420600
Colorectal Neoplasms	Associate	35567913, 36356413
Esophageal Neoplasms	Associate	21279724
Esophageal Squamous Cell Carcinoma	Associate	21279724
Fanconi Anemia	Associate	15256425, 16720839, 17106252, 19129235, 19405097, 21279724, 23613520, 23783032, 26119737, 27986371, 28535027, 28678401, 31513304, 31525021, 32420600, 33727708 View all (1 more)
Genetic Diseases Inborn	Associate	30122582
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30306255
Leukemia Myeloid Acute	Associate	33893150
Lung Neoplasms	Associate	26385482
Microsatellite Instability	Associate	36356413
Neoplasms	Associate	17106252, 30665374, 30942098, 32420600, 37327301, 40421962
Neoplastic Syndromes Hereditary	Associate	28050010
Obesity	Associate	24885863, 29220676
Pancytopenia	Associate	37327301
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	18607065
Recombinant chromosome 8 syndrome	Associate	30293905, 36627197
Squamous Cell Carcinoma of Head and Neck	Associate	28678401

FANCL (FA complementation group L)