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FTL (ferritin light chain)

Identity

Alias (NCBI)LFTD
NBIA3
HGNC (Hugo) FTL
HGNC Alias symbMGC71996
NBIA3
HGNC Alias nameferritin light polypeptide-like 3
 L apoferritin
 ferritin L subunit
 ferritin light chain
 ferritin L-chain
 neurodegeneration with brain iron accumulation 3
HGNC Previous nameferritin, light polypeptide
LocusID (NCBI) 2512
Atlas_Id 45708
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 48965309 and ends at 48966879 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATG13 (11p11.2) / FTL (19q13.33)FAM126B (2q33.1) / FTL (19q13.33)FTL (19q13.33) / ADAR (1q21.3)
FTL (19q13.33) / ADD3 (10q25.1)FTL (19q13.33) / CXCR4 (2q22.1)FTL (19q13.33) / FTL (19q13.33)
FTL (19q13.33) / GBP4 (1p22.2)FTL (19q13.33) / KPNA4 (3q25.33)FTL (19q13.33) / LOC100133331 (1p36.33)
FTL (19q13.33) / MAP3K5 (6q23.3)FTL (19q13.33) / SFPQ (16q24.1)FTL (19q13.33) / SFTPA2 (10q22.3)
FTL (19q13.33) / SUMO3 (21q22.3)FTL (19q13.33) / TIMP2 (17q25.3)FTL (19q13.33) / TUBA1B (12q13.12)
KIF3A (5q31.1) / FTL (19q13.33)MPRIP (17p11.2) / FTL (19q13.33)NHSL1 (6q23.3) / FTL (19q13.33)
R3HDM2 (12q13.3) / FTL (19q13.33)SURF4 (9q34.2) / FTL (19q13.33)TCF12 (15q21.3) / FTL (19q13.33)
WBP2 (17q25.1) / FTL (19q13.33)ZNF385B (2q31.2) / FTL (19q13.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)FTL   3999
Cards
Entrez_Gene (NCBI)FTL    ferritin light chain
AliasesLFTD; NBIA3
GeneCards (Weizmann)FTL
Ensembl hg19 (Hinxton)ENSG00000087086 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087086 [Gene_View]  ENSG00000087086 [Sequence]  chr19:48965309-48966879 [Contig_View]  FTL [Vega]
ICGC DataPortalENSG00000087086
TCGA cBioPortalFTL
AceView (NCBI)FTL
Genatlas (Paris)FTL
SOURCE (Princeton)FTL
Genetics Home Reference (NIH)FTL
Genomic and cartography
GoldenPath hg38 (UCSC)FTL  -     chr19:48965309-48966879 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FTL  -     19q13.33   [Description]    (hg19-Feb_2009)
GoldenPathFTL - 19q13.33 [CytoView hg19]  FTL - 19q13.33 [CytoView hg38]
ImmunoBaseENSG00000087086
Genome Data Viewer NCBIFTL [Mapview hg19]  
OMIM134790   600886   606159   615604   
Gene and transcription
Genbank (Entrez)AF147331 AK026534 AK130191 AK130205 AK131048
RefSeq transcript (Entrez)NM_000146
Consensus coding sequences : CCDS (NCBI)FTL
Gene ExpressionFTL [ NCBI-GEO ]   FTL [ EBI - ARRAY_EXPRESS ]   FTL [ SEEK ]   FTL [ MEM ]
Gene Expression Viewer (FireBrowse)FTL [ Firebrowse - Broad ]
GenevisibleExpression of FTL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2512
GTEX Portal (Tissue expression)FTL
Human Protein AtlasENSG00000087086-FTL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02792   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02792  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02792
PhosPhoSitePlusP02792
Domaine pattern : Prosite (Expaxy)FERRITIN_1 (PS00540)    FERRITIN_2 (PS00204)    FERRITIN_LIKE (PS50905)   
Domains : Interpro (EBI)Ferritin    Ferritin-like    Ferritin-like_diiron    Ferritin-like_SF    Ferritin_CS    Ferritin_DPS_dom   
Domain families : Pfam (Sanger)Ferritin (PF00210)   
Domain families : Pfam (NCBI)pfam00210   
Conserved Domain (NCBI)FTL
PDB (RSDB)2FFX    2FG4    2FG8    3KXU    4V6B    5LG8    6TR9    6TS0    6TS1    6TSA    6TSF    6TSJ    6WX6   
PDB Europe2FFX    2FG4    2FG8    3KXU    4V6B    5LG8    6TR9    6TS0    6TS1    6TSA    6TSF    6TSJ    6WX6   
PDB (PDBSum)2FFX    2FG4    2FG8    3KXU    4V6B    5LG8    6TR9    6TS0    6TS1    6TSA    6TSF    6TSJ    6WX6   
PDB (IMB)2FFX    2FG4    2FG8    3KXU    4V6B    5LG8    6TR9    6TS0    6TS1    6TSA    6TSF    6TSJ    6WX6   
Structural Biology KnowledgeBase2FFX    2FG4    2FG8    3KXU    4V6B    5LG8    6TR9    6TS0    6TS1    6TSA    6TSF    6TSJ    6WX6   
SCOP (Structural Classification of Proteins)2FFX    2FG4    2FG8    3KXU    4V6B    5LG8    6TR9    6TS0    6TS1    6TSA    6TSF    6TSJ    6WX6   
CATH (Classification of proteins structures)2FFX    2FG4    2FG8    3KXU    4V6B    5LG8    6TR9    6TS0    6TS1    6TSA    6TSF    6TSJ    6WX6   
SuperfamilyP02792
AlphaFold pdb e-kbP02792   
Human Protein Atlas [tissue]ENSG00000087086-FTL [tissue]
HPRD00616
Protein Interaction databases
DIP (DOE-UCLA)P02792
IntAct (EBI)P02792
BioGRIDFTL
STRING (EMBL)FTL
ZODIACFTL
Ontologies - Pathways
QuickGOP02792
Ontology : AmiGOiron ion binding  protein binding  extracellular region  cytoplasm  cytosol  iron ion transport  cellular iron ion homeostasis  intracellular sequestering of iron ion  post-Golgi vesicle-mediated transport  intracellular ferritin complex  ferrous iron binding  ferric iron binding  membrane  azurophil granule lumen  identical protein binding  neutrophil degranulation  autolysosome  iron ion homeostasis  extracellular exosome  
Ontology : EGO-EBIiron ion binding  protein binding  extracellular region  cytoplasm  cytosol  iron ion transport  cellular iron ion homeostasis  intracellular sequestering of iron ion  post-Golgi vesicle-mediated transport  intracellular ferritin complex  ferrous iron binding  ferric iron binding  membrane  azurophil granule lumen  identical protein binding  neutrophil degranulation  autolysosome  iron ion homeostasis  extracellular exosome  
Pathways : KEGGPorphyrin and chlorophyll metabolism    Mineral absorption   
NDEx NetworkFTL
Atlas of Cancer Signalling NetworkFTL
Wikipedia pathwaysFTL
Orthology - Evolution
OrthoDB2512
GeneTree (enSembl)ENSG00000087086
Phylogenetic Trees/Animal Genes : TreeFamFTL
Homologs : HomoloGeneFTL
Homology/Alignments : Family Browser (UCSC)FTL
Gene fusions - Rearrangements
Fusion : MitelmanFTL/ADD3 [19q13.33/10q25.1]  
Fusion : MitelmanFTL/SFTPA2 [19q13.33/10q22.3]  
Fusion : QuiverFTL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFTL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FTL
dbVarFTL
ClinVarFTL
MonarchFTL
1000_GenomesFTL 
Exome Variant ServerFTL
GNOMAD BrowserENSG00000087086
Varsome BrowserFTL
ACMGFTL variants
VarityP02792
Genomic Variants (DGV)FTL [DGVbeta]
DECIPHERFTL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFTL 
Mutations
ICGC Data PortalFTL 
TCGA Data PortalFTL 
Broad Tumor PortalFTL
OASIS PortalFTL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFTL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFTL
Mutations and Diseases : HGMDFTL
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFTL
DgiDB (Drug Gene Interaction Database)FTL
DoCM (Curated mutations)FTL
CIViC (Clinical Interpretations of Variants in Cancer)FTL
Cancer3DFTL
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM134790    600886    606159    615604   
Orphanet1580    17155    19766    23415    23415   
DisGeNETFTL
MedgenFTL
Genetic Testing Registry FTL
NextProtP02792 [Medical]
GENETestsFTL
Target ValidationFTL
Huge Navigator FTL [HugePedia]
ClinGenFTL (curated)
Clinical trials, drugs, therapy
MyCancerGenomeFTL
Protein Interactions : CTDFTL
Pharm GKB GenePA28412
PharosP02792
Clinical trialFTL
Miscellaneous
canSAR (ICR)FTL
HarmonizomeFTL
DataMed IndexFTL
Probes
Litterature
PubMed212 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFTL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:10:02 CEST 2021

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