FANCL - FA complementation group L Gene

Homo sapiens

Also known as POG; PHF9; FAAP43

Gene ID: 55120 | Gene type: protein coding

About FANCL

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:58,159,243-58,241,380 (from NCBI)

This gene has 156 transcripts (splice variants), 204 orthologues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 16.9), testis (RPKM 12.0) and 25 other tissues.

Summary

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]

FANCL Products(4)

mRNA	Protein	Name
NM_001114636.1	NP_001108108.1	E3 ubiquitin-protein ligase FANCL isoform 1
NM_001374615.1	NP_001361544.1	E3 ubiquitin-protein ligase FANCL isoform 3
NM_001410792.1	NP_001397721.1	E3 ubiquitin-protein ligase FANCL isoform 4
NM_018062.4	NP_060532.2	E3 ubiquitin-protein ligase FANCL isoform 2

FANCL Protein Structure

WD-3

FANCL_C

0
100
200
300
375 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase FANCL

Fanconi anemia complementation group L

Related Diseases

Diseases

Alias

Fanconi Anemia, Complementation Group L

Fanconi Anemia Complementation Group L

FANCL

Vacterl Association

Vater Association

Vater Syndrome

Vacterl Association, X-Linked, With Or Without Hydrocephalus

VACTERLX	X-Linked Vacterl Association
Vacterl-H, X-Linked	Vacterl Association, X-Linked
Vacterl Association, X-Linked With Or Without Hydrocephalus	Vacterl Association X-Linked With Or Without Hydrocephalus
Vacterl Syndrome	Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies
X-Linked Vacterl-H	Vacterl Association
Vacterl Association With Hydrocephalus

Vacterl Association With Hydrocephaly, X-Linked

X-Linked Vacterl-H Syndrome

Vacterl Association With Hydrocephalus

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Fanconi Anemia, Complementation Group B

Fanconi Anemia Complementation Group B	FANCB
Facb	Fa2
Fanconi Pancytopenia Type 2	Fanconi Pancytopenia, Type 2

Fanconi Anemia, Complementation Group V

Fanconi Anemia Complementation Group V

FANCV

Bloom Syndrome

BLM	Bs
Bls	Bloom-Torre-Machacek Syndrome
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1	Mgrisce1
Congenital Telangiectatic Erythema	Congenital Telangiectatic Erythema Syndrome
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability	Bloom'S Syndrome
Bsyn

Fanconi Anemia, Complementation Group O

Fanconi Anemia Complementation Group O

FANCO

Fanconi Anemia, Complementation Group R

Fanconi Anemia Complementation Group R

FANCR

Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2	FANCD2
Fad2	Fa4
Fancd	Fanconi Pancytopenia Type 4
Fanconi Anemia, Complementation Group D	Fanconi Pancytopenia, Type 4
Facd	Fanconi Anemia Complementation Group D

Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI

Physical Disorder

Physical Illness

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck	HNSCC
Head And Neck Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lip
Squamous Cell Carcinoma, Head And Neck, Somatic	Carcinoma Of The Head And Neck
Squamous Cell Carcinomas Of Head And Neck	Scchn
Squamous Cell Carcinoma Of The Hypopharynx	Squamous Cell Carcinoma Of The Oropharynx
Squamous Cell Carcinoma Of Salivary Glands	Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses
Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses	Squamous Cell Carcinoma Of The Oral Cavity
Squamous Cell Carcinoma Of The Lip	Carcinoma, Squamous Cell Of Head And Neck
Lip Squamous Cell Carcinoma	Carcinoma, Squamous Cell, Head And Neck
Salivary Gland Squamous Cell Carcinoma	Cancer Of Head And Neck
Squamous Cell Carcinoma Of Oropharynx Nos

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Orofacial Cleft

Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-126539	UBE2T/FANCL-IN-1		99.83%	Unkown
HY-RS04740	FANCL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FANCL	VGNC	VGNC:72542
Mus musculus	FANCL	MGD	MGI:1914280
Canis familiaris	FANCL	VGNC	VGNC:40724
Bos taurus	FANCL	VGNC	VGNC:28860
Felis catus	FANCL	VGNC	VGNC:80093
Rattus norvegicus	FANCL	RGD	RGD:1311427

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