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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FTL Gene

protein-coding   GIFtS: 69
GCID: GC19P049468

Ferritin, Light Polypeptide

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ferritin, Light Polypeptide1 2     Ferritin Light Polypeptide-Like 31 2
Ferritin L Subunit1 2 3     NBIA32 5
Ferritin L-Chain1 2     L Apoferritin1
Ferritin Light Chain1 2     Neurodegeneration With Brain Iron Accumulation 31

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

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 hyperferritinemia cataract syndrome, and neuroferritinopathy, and among its related super-pathways are Golgi Associated Vesicle Biogenesis and Transferrin endocytosis and recycling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FTL gene promoter:
         STAT1   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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;
6/7 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02792

  • FTL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FTL Protein Expression
    REFSEQ proteins: NP_000137.2  
    ENSEMBL proteins: 
     ENSP00000366525  
    Reactome Protein details: P02792
    Human Recombinant Protein Products for FTL: 
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    Sino Biological Recombinant Protein for FTL
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    ProSpec Recombinant Protein for FTL
    Cloud-Clone Corp. Proteins for FTL 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0008043intracellular ferritin complex IDA19923220

    FTL for ontologies           About GeneDecksing



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    Assay Products for FTL: 
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    Cloud-Clone Corp. CLIAs for FTL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 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


    FTL for domains           About GeneDecksing


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

    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IDA19923220
    GO:0005515protein binding IPI16169070
    GO:0008199ferric iron binding IEA--
    GO:0016491oxidoreductase activity IEA--
    GO:0042802identical protein binding IPI16169070
         
    FTL for ontologies           About GeneDecksing


    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:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FTL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FTL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FTL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FTL 

    miRNA
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    hsa-miR-22 hsa-miR-133a hsa-miR-133b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of FTL 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FTL


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FTL About   (see all 9)                                                                                              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
    2Insulin receptor recycling
    Iron uptake and transport0.69
    3Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.63
    4SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    5Glucuronidation
    Porphyrin and chlorophyll metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for FTL
        Integrated Pancreatic Cancer Pathway


    5/8        Reactome Pathways for FTL (see all 8)
        Transmembrane transport of small molecules
    Membrane Trafficking
    Scavenging by Class A Receptors
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis


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


    FTL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FTL

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

    5/49 Interacting proteins for FTL (P027921, 2, 3 ENSP000003665254) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    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 
    NAMPTP434902, 3, ENSP000002225534MINT-6538799 MINT-6538712 MINT-6538862 I2D: score=1 STRING: ENSP00000222553
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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

    FTL for ontologies           About GeneDecksing



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

    FTL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/17 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)

    Search CenterWatch for drugs/clinical trials and news about FTL / FRIL

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FTL gene: 
    NM_000146.3  

    Unigene Clusters for FTL:

    Ferritin, light polypeptide
    Hs.433670  [show with all ESTs], Hs.728304  [show with all ESTs]
    Unigene Representative Sequences: BF244604, BM918687
    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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    Additional mRNA sequence: Y09188.1 

    24/163 DOTS entries (see all 163):

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

    24/32 AceView cDNA sequences (see all 32):

    CR608406 NM_000146 BC004245 AK130205 AF147331 Y09188 AK131050 BC002991 
    AK131048 AK130191 CR610876 CR596451 BC008439 BC021670 BC018990 AY466472 
    BC016354 AK131053 BC016715 BC008441 AK026534 BC013928 BC058820 BX571748 

    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™, 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

    FTL expression in normal human tissues (normalized intensities)      FTL embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)
             T-Cytotoxic Cells Thymus
     
     Blood (Cardiovascular System)
             T-Cytotoxic Cells Thymus
     
     Spinal Cord (Nervous System)

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

    SOURCE GeneReport for Unigene clusters: Hs.433670 Hs.728304
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FTL gene from 7/14 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
    Ferritoid; Uncharacterized protein
    22(a)
    1 ↔ 1
    5(11570116-11578064)
    lizard
    (Anolis carolinensis)
    Reptilia --
    FTL6
    (see all 5)
    ferritin, light polypeptide
    (see all 5)
    55(a)
    54(a)
    (see all 5)
    possible ortholog
    1 ↔ 1
    (see all 5)
    5(147692658-147697365)
    GL343287.1(38301-51141)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC757522 hypothetical protein MGC75752 76.11(n)    BC063337.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:920666
    zgc:1735946
    (see all 10)
    zgc:173594
    (see all 10)
    55(a)
    55(a)
    (see all 10)
    possible ortholog
    possible ortholog
    (see all 10)
    3(32235718-32257127)
    3(32276514-32278057)
    fruit fly
    (Drosophila melanogaster)
    Insecta Fer3HCH6
    Fer1HCH6
    Ferritin 1 heavy chain homologue
    33(a)
    19(a)
    1 ↔ many
    1 ↔ many
    X(13001415-13002227)
    3R(26211295-26213900)
    worm
    (Caenorhabditis elegans)
    Secernentea ftn-26
    ftn-16
    Protein FTN-1
    49(a)
    43(a)
    1 ↔ many
    1 ↔ many
    I(3680178-3680944)
    V(7545974-7548012)


    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)
    About This Section
    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

    FTL for paralogs           About GeneDecksing


    5/19 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) 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)
    About This Section

    10/166 SNPs in FTL are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 134790   
    OMIM disorders: 600886  606159  
    UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792
  • Hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]: Autosomal dominant disease
    characterized by early-onset bilateral cataract. Affected patients have elevated level of circulating ferritin.
    HHCS is caused by mutations in the iron responsive element (IRE) of the FTL gene. 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

  • 20/50 diseases for FTL (see all 50):    About MalaCards
    hyperferritinemia cataract syndrome    neuroferritinopathy    genetic hyperferritinemia without iron overload    neonatal hemochromatosis
    tularemia    basal ganglia disease    hemosiderosis    hemochromatosis
    cataract    restless legs syndrome    porphyria cutanea tarda    autosomal dominant disease
    pneumoconiosis    porphyria    hemophagocytic lymphohistiocytosis    hiv/aids
    leukopenia    arthropathy    sickle cell anemia    hypersensitivity reaction type ii disease

    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

    FTL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/16 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)
    About This Section

    PubMed articles for FTL gene, integrated from 9 sources (see all 253):
    (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. (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. (2003)
    3. Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurode generation. (PubMed id 19923220)1, 2 Baraibar M.A....Vidal R. (2010)
    4. 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. (2010)
    5. Genetic variation and antioxidant response gene expre ssion in the bronchial airway epithelium of smokers at risk for lung cancer. (PubMed id 20689807)1, 4 Wang X....Bell D.A. (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. (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. (2007)
    8. Analysis of ferritin genes in Parkinson disease. (PubMed id 17970701)1, 4 Foglieni B....Cremonesi L. (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. (2006)
    10. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. (PubMed id 16116125)1, 2 Maciel P.... Santos M.M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 2512 HGNC: 3999 AceView: FTL Ensembl:ENSG00000087086 euGenes: HUgn2512
    ECgene: FTL Kegg: 2512 H-InvDB: FTL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FTL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FTL
    Wikipedia http://en.wikipedia.org/wiki/Ferritin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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