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FTL Gene

protein-coding   GIFtS: 70
GCID: GC19P049468

Ferritin, Light Polypeptide

  See FTL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ferritin, Light Polypeptide1 2     LFTD2 5
Ferritin L Subunit1 2 3     NBIA32 5
Ferritin L-Chain1 2     L Apoferritin1
Ferritin Light Chain1 2     Neurodegeneration With Brain Iron Accumulation 31
Ferritin Light Polypeptide-Like 31 2     

External Ids:    HGNC: 39991   Entrez Gene: 25122   Ensembl: ENSG000000870867   OMIM: 1347905   UniProtKB: P027923   

Export aliases for FTL gene to outside databases

Previous GC identifers: GC19P050126 GC19P049836 GC19P054145 GC19P054160 GC19P045848


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FTL Gene:
This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage
protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains.
Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A
major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain
ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome.
This gene has multiple pseudogenes. (provided by RefSeq, Jul 2008)

GeneCards Summary for FTL Gene:
FTL (ferritin, light polypeptide) is a protein-coding gene. Diseases associated with FTL include neuroferritinopathy, and neurodegeneration with brain iron accumulation 3. GO annotations related to this gene include oxidoreductase activity and identical protein binding. An important paralog of this gene is FTMT.

UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792
Function: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is
taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of
iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity)

Gene Wiki entry for FTL (Ferritin light chain) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the FTL gene promoter:
         STAT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFTL promoter sequence
   Search Chromatin IP Primers for FTL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FTL


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P049468:  view genomic region     (about GC identifiers)

Start:
49,468,558 bp from pter      End:
49,470,136 bp from pter
Size:
1,579 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792 (See protein sequence)
Recommended Name: Ferritin light chain  
Size: 175 amino acids; 20020 Da
Subunit: Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major
chain can be light or heavy, depending on the species and tissue type. The functional molecule forms a roughly
spherical shell with a diameter of 12 nm and contains a central cavity into which the insoluble mineral iron core
is deposited. Iron enters the spherical protein shell through pores that are formed between subunits. Mutations
leading to truncation or the addition of extra residues at the C-terminus interfere with normal pore formation
and with iron accumulation
Sequence caution: Sequence=CAE11873.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for FTL (see all 7):
2FFX (3D)        2FG4 (3D)        2FG8 (3D)        3HX2 (3D)        3HX5 (3D)        3HX7 (3D)    
Secondary accessions: B2R4B9 Q6IBT7 Q7Z2W1 Q86WI9 Q8WU07 Q96AU9 Q96CU0 Q9BTZ8

Explore the universe of human proteins at neXtProt for FTL: NX_P02792

Explore proteomics data for FTL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys68
  • Modification sites at PhosphoSitePlus

  • See FTL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000137.2  
    ENSEMBL proteins: 
     ENSP00000366525  
    Reactome Protein details: P02792

    FTL Human Recombinant Protein Products:

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    antibodies-online proteins for FTL (25 products) 

     
    antibodies-online peptides for FTL

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    antibodies-online kits for FTL (36 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR009040 Ferritin-like_diiron
     IPR012347 Ferritin-rel
     IPR001519 Ferritin
     IPR014034 Ferritin_CS
     IPR009078 Ferritin-like_SF

    Graphical View of Domain Structure for InterPro Entry P02792

    ProtoNet protein and cluster: P02792

    3 Blocks protein domains:
    IPB001519 Ferritin
    IPB008331 Ferritin and Dps
    IPB014034 Ferritin


    UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792
    Similarity: Belongs to the ferritin family
    Similarity: Contains 1 ferritin-like diiron domain


    Find genes that share domains with FTL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FRIL_HUMAN, P02792
    Function: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is
    taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of
    iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity)

         Genatlas biochemistry entry for FTL:
    ferritin,light polypeptide,19kDa,19.9kDa,non-storage protein

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IDA19923220
    GO:0005515protein binding IPI16169070
    GO:0008199ferric iron binding IEA--
    GO:0042802identical protein binding IPI16169070
         
    Find genes that share ontologies with FTL           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for FTL:
     Cell division defect  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 
     Increased G2M DNA content  Increased number of mitotic ce 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FTL

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    hsa-mir-16-5p (MIRT031525), hsa-mir-133a-3p (MIRT021706)

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    Gene Editing
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    Sino Biological Human cDNA Clone for FTL
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FTL

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular4
    endosome3
    lysosome3
    plasma membrane3
    vacuole3
    cytoskeleton2
    endoplasmic reticulum2
    golgi apparatus2
    mitochondrion2
    nucleus2
    chloroplast1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0008043intracellular ferritin complex IDA19923220
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with FTL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FTL About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging by Class A Receptors0.00
    3Insulin receptor recycling
    Iron uptake and transport0.70
    4Metabolism of porphyrins
    Porphyrin and chlorophyll metabolism0.56
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with FTL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for FTL
        Integrated Pancreatic Cancer Pathway


    3 Reactome Pathways for FTL
        Scavenging by Class A Receptors
    Golgi Associated Vesicle Biogenesis
    Iron uptake and transport


    2 Kegg Pathways  (Kegg details for FTL):
        Porphyrin and chlorophyll metabolism
    Mineral absorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FTL
    Interactions:

        Search GeneGlobe Interaction Network for FTL

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

    Selected Interacting proteins for FTL (P027921, 2, 3 ENSP000003665254) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FTLP027921, 2EBI-713279,EBI-713279 MINT-68335 MINT-63355
    PTNP212462, 3MINT-63356 I2D: score=5 
    MAP3K12Q128522, 3MINT-63358 I2D: score=4 
    SMAD9O151982, 3MINT-62138 I2D: score=3 
    NAMPTP434901, 2, 3, ENSP000002225534EBI-713279,EBI-2829310 MINT-6538799 MINT-6538712 MINT-6538862 I2D: score=1 STRING: ENSP00000222553
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006826iron ion transport IEA--
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0008219cell death IEA--
    GO:0055072iron ion homeostasis TAS19923220

    Find genes that share ontologies with FTL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FTL (FRIL)

    1 HMDB Compound for FTL    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    2 DrugBank Compounds for FTL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Protoporphyrin Ix-- 553-12-8target--17139284 17016423 10592235
    Iron DextranDexferrum (see all 2)9004-66-4targetother17139284 17016423

    Selected Novoseek inferred chemical compound relationships for FTL gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 83.9 144 16217041 (3), 1463463 (3), 7647009 (3), 10366790 (2) (see all 71)
    ferrozine 59.8 1 10471599 (1)
    ferric ammonium citrate 56.8 1 8436211 (1)
    deferoxamine 45.1 2 10477743 (1)
    fe3+ 36.7 1 16790936 (1)
    haem 26.1 1 1332674 (1)
    fenton 21.2 1 16519538 (1)
    oxygen 14.5 4 17084901 (1)
    h2o2 5.4 2 17084901 (1)
    chloroquine 4.55 1 10477743 (1)



    Find genes that share compounds with FTL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FTL gene: 
    NM_000146.3  

    Unigene Cluster for FTL:

    Ferritin, light polypeptide
    Hs.433670  [show with all ESTs]
    Unigene Representative Sequence: BF244604
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000331825(uc002pln.1 uc002plo.3)
    miRNA
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    hsa-miR-22 hsa-miR-133a hsa-miR-133b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiTect SYBR Green Assays in human, mouse, rat FTL
      QuantiFast Probe-based Assays in human, mouse, rat FTL

    Additional mRNA sequence: 

    AF147331.1 AK026534.1 AK130191.1 AK130205.1 AK131048.1 AK131050.1 AK131053.1 AK307065.1 
    AK311773.1 AY207005.1 AY466472.1 BC002991.1 BC004245.1 BC008439.1 BC008441.1 BC013928.1 
    BC016346.1 BC016354.1 BC016715.1 BC018990.2 BC021670.1 BC058820.1 BC062708.1 BC067772.1 
    BX571748.1 CR456715.1 M10119.1 M11147.1 M12938.1 

    Selected DOTS entries (see all 149):

    DT.91660269  DT.97847999  DT.92326693  DT.99926648  DT.95222760  DT.454800  DT.95274251  DT.101987514 
    DT.91917348  DT.95274267  DT.91972273  DT.100735710  DT.91972745  DT.101987515  DT.95274349  DT.91683650 
    DT.100735777  DT.95274163  DT.97848029  DT.121458314  DT.99926645  DT.91972068  DT.100735761  DT.100735694 

    Selected AceView cDNA sequences (see all 32):

    Y09188 AK131050 NM_000146 AK131048 BC002991 AK130191 CR608406 BC004245 
    CR610876 CR596451 AK130205 AF147331 AY207005 BC018990 BC021670 BC013928 
    BC058820 M11147 AK131053 AK026534 CR456715 M12938 BX571748 BC016715 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FTL    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b
    SP1:                    -                                 
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for FTL

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FTL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGGGTTC
    FTL Expression
    About this image


    FTL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             T-Cytotoxic Cells Thymus
     
     Endoderm (Gastrulation Derivatives)
             Endoderm-like cells
     
     Blood (Cardiovascular System)
             T-Cytotoxic Cells Thymus
     
     Spinal Cord (Nervous System)
    FTL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FTL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433670
        Custom PCR Arrays for FTL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FTL

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for FTL gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ftl11 , 5 ferritin light chain 11, 5 84.57(n)1
    81.71(a)1
      7 (29.32 cM)5
    143251  NM_010240.21  NP_034370.21 
     454579445 
    chicken
    (Gallus gallus)
    Aves FTD6
    Gallus gallus ferritin, light polypeptide (FTL), m...
    21(a)
    1 ↔ 1
    5(11570116-11578064)
    lizard
    (Anolis carolinensis)
    Reptilia FTL6
    ferritin, light polypeptide
    54(a)
    1 ↔ 1
    GL343287.1(38301-51141)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC757522 hypothetical protein MGC75752 76.11(n)    BC063337.1 
    zebrafish
    (Danio rerio)
    Actinopterygii FTL6
    ferritin, light polypeptide
    25(a)
    1 ↔ 1
    25(32268121-32276783) ENSDARG00000045586
    fruit fly
    (Drosophila melanogaster)
    Insecta Fer3HCH6
    Fer1HCH6
    Ferritin 1 heavy chain homologue
    33(a)
    20(a)
    1 ↔ many
    1 ↔ many
    X(13001415-13002227)
    3R(26211295-26213900)
    worm
    (Caenorhabditis elegans)
    Secernentea ftn-26
    ftn-16
    Protein FTN-1 (ftn-1) mRNA, complete cds
    49(a)
    44(a)
    1 ↔ many
    1 ↔ many
    I(3680178-3680944) WBGene00001501
    V(7545974-7548012) WBGene00001500


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FTL gene
    FTMT2  FTHL172  FTH12  
    5 SIMAP similar genes for FTL using alignment to 7 protein entries:     FRIL_HUMAN (see all proteins):
    FTL variant    FTH1    FTMT    FTHL17    FTH1P19

    Find genes that share paralogs with FTL           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for FTL (see all 19)
    PGOHUM00000242333 PGOHUM00000242494 PGOHUM00000248472 PGOHUM00000246704 PGOHUM00000262923


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FTL (see all 166)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0266334
    Neurodegeneration with brain iron accumulation 3 (NBIA3)4--see VAR_0266332 A T mis40--------
    rs1048946851,2
    Cpathogenic148116251(+) CAGACA/GCCATG 2 T A mis10--------
    rs1840097221,2
    --45843980(+) GGGCCC/TGATTT 1 -- us2k10--------
    rs1145547841,2
    C,F--45844126(+) GCAGTC/TGCTGC 1 -- us2k11Minor allele frequency- T:0.09WA 118
    rs1875118891,2
    --45844192(+) CAGGGC/GCTGCC 1 -- us2k10--------
    rs1125931611,2
    F--45844519(+) GCCACG/AGAGAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1424065821,2
    --45844605(+) AGACTC/TTTCAT 1 -- us2k10--------
    rs1464526581,2
    C--45844695(+) TGGAGA/GGTTCC 1 -- us2k10--------
    rs735777171,2
    C,F--45844913(+) AGTCCC/GCGCAA 1 -- us2k13Minor allele frequency- G:0.10WA CSA 121
    rs1409457191,2
    --45844964(+) ACCTCA/CCAGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FTL (49468558 - 49470136 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FTL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833857CNV Loss17160897
    nsv833856CNV Loss17160897
    nsv912248CNV Loss21882294
    nsv9739CNV Gain+Loss18304495

    Human Gene Mutation Database (HGMD): FTL
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing FTL
    DNA2.0 Custom Variant and Variant Library Synthesis for FTL

    (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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    OMIM gene information: 134790   
    OMIM disorders: 600886  606159  615604  
    UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792
  • Hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]: An autosomal dominant disease
    characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Neurodegeneration with brain iron accumulation 3 (NBIA3) [MIM:606159]: A neurodegenerative disorder
    associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety
    of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit
    and episodic psychosis. It is linked with decreased serum ferritin levels. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 13 diseases for FTL:    
    About MalaCards
    neuroferritinopathy    neurodegeneration with brain iron accumulation 3    l-ferritin deficiency, dominant and recessive    hyperferritinemia cataract syndrome
    genetic hyperferritinemia without iron overload    neonatal hemochromatosis    schizotypal personality disorder    basal ganglia disease
    generalized dystonia    hemosiderosis    exanthem    cataract
    siderosis

    20 diseases from the University of Copenhagen DISEASES database for FTL:
    Anemia     Hemochromatosis     Nutrition disease     Thalassemia
    Siderosis     Hemophagocytic lymphohistiocytosis     Liver disease     Hemosiderosis
    Kidney disease     Cancer     Hepatitis C     Porphyria cutanea tarda
    Brain disease     Vascular disease     Neurodegenerative disease     Diabetes mellitus
    Arthritis     Vitamin B12 deficiency     Exanthem     Fatty liver disease

    Find genes that share disorders with FTL           About GenesLikeMe

    Selected Novoseek inferred disease relationships for FTL gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperferritinemia-cataract syndrome 96.1 5 10366790 (1), 16406710 (1), 10592329 (1), 19800271 (1)
    iron overload 82.4 4 10759702 (1), 19176363 (1), 1951088 (1)
    cataract 68.4 19 17927936 (2), 16518306 (2), 15861269 (2), 19994473 (2) (see all 15)
    hemochromatosis 52.3 1 17951290 (1)
    nuclear cataract 42.1 1 10753629 (1)
    iron deficiency 41.3 2 7647009 (2)
    movement disorders 36 1 16822677 (1)
    genetic disorder 30.8 2 10746272 (1), 10592329 (1)
    anemia 30.5 2 12230229 (1)
    metastatic melanoma 11.3 1 16252260 (1)

    GeneTests: FTL
    GeneReviews: FTL
    Genetic Association Database (GAD): FTL
    Human Genome Epidemiology (HuGE) Navigator: FTL (10 documents)

    Export disorders for FTL 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 FTL gene, integrated from 10 sources (see all 257):
    (articles sorted by number of sources associating them with FTL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of human ferritin L chain. (PubMed id 16790936)1, 2, 9 Wang Z.... Carter D.C. (Acta Crystallogr. D 2006)
    2. Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. (PubMed id 14615048)1, 4, 9 Felletschin B....Berg D. (Neurosci. Lett. 2003)
    3. Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation. (PubMed id 20159981)1, 2 Luscieti S....Arosio P. (J. Biol. Chem. 2010)
    4. Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration. (PubMed id 19923220)1, 2 Baraibar M.A.... Vidal R. (J. Biol. Chem. 2010)
    5. Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer. (PubMed id 20689807)1, 4 Wang X....Bell D.A. (PLoS ONE 2010)
    6. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (Mech. Ageing Dev. 2008)
    7. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (BMC Genet. 2007)
    8. Analysis of ferritin genes in Parkinson disease. (PubMed id 17970701)1, 4 Foglieni B....Cremonesi L. (Clin. Chem. Lab. Med. 2007)
    9. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. (PubMed id 16858508)1, 4 Costa M.d.o. .C....Maciel P. (J. Hum. Genet. 2006)
    10. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. (PubMed id 16116125)1, 2 Maciel P.... Santos M.M. (Neurology 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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: 2512 HGNC: 3999 AceView: FTL Ensembl:ENSG00000087086 euGenes: HUgn2512
    ECgene: FTL Kegg: 2512 H-InvDB: FTL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FTL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FTL[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Ferritin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FTL gene:
    Search GeneIP for patents involving FTL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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