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Aliases for FTL Gene

Aliases for FTL Gene

  • Ferritin, Light Polypeptide 2 3
  • Ferritin L Subunit 2 3 4
  • Ferritin Light Polypeptide-Like 3 2 3
  • Ferritin L-Chain 2 3
  • Neurodegeneration With Brain Iron Accumulation 3 2
  • Ferritin Light Chain 2
  • L Apoferritin 2
  • NBIA3 3
  • LFTD 3

External Ids for FTL Gene

Previous GeneCards Identifiers for FTL Gene

  • GC19P050126
  • GC19P049836
  • GC19P054145
  • GC19P054160
  • GC19P049468
  • GC19P045848

Summaries for FTL Gene

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 neurodegeneration with brain iron accumulation 3. Among its related pathways are Integrated Pancreatic Cancer Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include identical protein binding and ferric iron binding. An important paralog of this gene is FTHL17.

UniProtKB/Swiss-Prot for FTL Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FTL Gene

Genomics for FTL Gene

Regulatory Elements for FTL Gene

Transcription factor binding sites by QIAGEN in the FTL gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FTL Gene

Chromosome:
19
Start:
48,965,301 bp from pter
End:
48,966,879 bp from pter
Size:
1,579 bases
Orientation:
Plus strand

Genomic View for FTL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTL Gene

Proteins for FTL Gene

  • Protein details for FTL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02792-FRIL_HUMAN
    Recommended name:
    Ferritin light chain
    Protein Accession:
    P02792
    Secondary Accessions:
    • B2R4B9
    • Q6IBT7
    • Q7Z2W1
    • Q86WI9
    • Q8WU07
    • Q96AU9
    • Q96CU0
    • Q9BTZ8

    Protein attributes for FTL Gene

    Size:
    175 amino acids
    Molecular mass:
    20020 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAE11873.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FTL Gene

neXtProt entry for FTL Gene

Proteomics data for FTL Gene at MOPED

Post-translational modifications for FTL Gene

  • Ubiquitination at Lys 68
  • Modification sites at PhosphoSitePlus

Other Protein References for FTL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FTL Gene

Domains & Families for FTL Gene

Suggested Antigen Peptide Sequences for FTL Gene

Graphical View of Domain Structure for InterPro Entry

P02792

UniProtKB/Swiss-Prot:

FRIL_HUMAN :
  • Contains 1 ferritin-like diiron domain.
  • Belongs to the ferritin family.
Domain:
  • Contains 1 ferritin-like diiron domain.
Family:
  • Belongs to the ferritin family.
genes like me logo Genes that share domains with FTL: view

No data available for Gene Families for FTL Gene

Function for FTL Gene

Molecular function for FTL Gene

GENATLAS Biochemistry:
ferritin,light polypeptide,19kDa,19.9kDa,non-storage protein
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for FTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IDA 19923220
GO:0005515 protein binding IPI 16169070
GO:0008199 ferric iron binding IEA --
GO:0042802 identical protein binding IPI 16169070
genes like me logo Genes that share ontologies with FTL: view
genes like me logo Genes that share phenotypes with FTL: view

miRNA for FTL Gene

miRTarBase miRNAs that target FTL

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FTL

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FTL Gene

Localization for FTL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FTL Gene COMPARTMENTS Subcellular localization image for FTL gene
Compartment Confidence
extracellular 5
cytosol 4
nucleus 2
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for FTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell --
GO:0005829 cytosol TAS --
GO:0008043 intracellular ferritin complex IDA 19923220
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FTL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FTL Gene

Pathways & Interactions for FTL Gene

genes like me logo Genes that share pathways with FTL: view

Gene Ontology (GO) - Biological Process for FTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006826 iron ion transport IEA --
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0055072 iron ion homeostasis TAS 19923220
genes like me logo Genes that share ontologies with FTL: view

No data available for SIGNOR curated interactions for FTL Gene

Drugs & Compounds for FTL Gene

(11) Drugs for FTL Gene - From: NovoSeek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Dextran Approved Pharma Target, other 0
chloroquine Approved Pharma Agonist 137
Deferoxamine Approved, Investigational Pharma 44
Dexamethasone Approved, Investigational Pharma Agonist 1806
Iron Approved Pharma 957

(9) Additional Compounds for FTL Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Fe3+
  • Fe(III)
  • Ferric ion
  • Iron(3+)
7439-89-6
Fenton
ferric ammonium citrate
ferrozine
genes like me logo Genes that share compounds with FTL: view

Transcripts for FTL Gene

mRNA/cDNA for FTL Gene

Unigene Clusters for FTL Gene

Ferritin, light polypeptide:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FTL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FTL Gene

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

Relevant External Links for FTL Gene

GeneLoc Exon Structure for
FTL
ECgene alternative splicing isoforms for
FTL

Expression for FTL Gene

mRNA expression in normal human tissues for FTL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FTL Gene

This gene is overexpressed in Whole Blood (x7.5).

Protein differential expression in normal tissues from HIPED for FTL Gene

This gene is overexpressed in Liver, secretome (29.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FTL Gene



SOURCE GeneReport for Unigene cluster for FTL Gene Hs.433670

genes like me logo Genes that share expression patterns with FTL: view

Protein tissue co-expression partners for FTL Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for FTL Gene

Orthologs for FTL Gene

This gene was present in the common ancestor of animals.

Orthologs for FTL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC788801 35
  • 87.05 (n)
  • 84 (a)
-- 36
  • 47 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
FTL 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC102155200 35
  • 88.38 (n)
  • 86.86 (a)
-- 36
  • 86 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
FTL 36
  • 87 (a)
OneToMany
FTL 36
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ftl1 35
  • 84.57 (n)
  • 81.71 (a)
Ftl1 16
Ftl1 36
  • 78 (a)
OneToMany
Gm10116 36
  • 78 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia FTL 35
  • 99.81 (n)
  • 99.43 (a)
FTL 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ftl1 35
  • 85.33 (n)
  • 84.57 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 44 (a)
OneToMany
-- 36
  • 38 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FTL 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves FTD 36
  • 21 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FTL 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75752 35
MGC75752 35
  • 64.31 (n)
  • 61.76 (a)
zebrafish
(Danio rerio)
Actinopterygii FTL 36
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fer1HCH 36
  • 20 (a)
OneToMany
Fer3HCH 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ftn-1 36
  • 44 (a)
OneToMany
ftn-2 36
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11041 36
  • 42 (a)
OneToOne
Species with no ortholog for FTL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FTL Gene

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

Paralogs for FTL Gene

Paralogs for FTL Gene

(5) SIMAP similar genes for FTL Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with FTL: view

Variants for FTL Gene

Sequence variations from dbSNP and Humsavar for FTL Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1803578 -- 48,966,727(+) TCAAG(C/T)ACGAC reference, missense
rs1803580 -- 48,966,721(+) TCACT(C/T)TCAAG reference, missense
rs1803581 -- 48,966,823(+) GGCAG(A/C/T)TTTCT utr-variant-3-prime
rs2230267 Likely pathogenic 48,965,830(+) GCGAA(C/T)TGGCC synonymous-codon, reference
rs3210196 -- 48,966,308(+) GTAAA(A/C/G)CCCCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FTL Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833856 CNV Loss 17160897
nsv833857 CNV Loss 17160897
nsv912248 CNV Loss 21882294

Variation tolerance for FTL Gene

Residual Variation Intolerance Score: 23.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FTL Gene

HapMap Linkage Disequilibrium report
FTL
Human Gene Mutation Database (HGMD)
FTL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FTL Gene

Disorders for FTL Gene

MalaCards: The human disease database

(22) MalaCards diseases for FTL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

- elite association
Search FTL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FRIL_HUMAN
  • 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. {ECO:0000269 PubMed:19176363}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • L-ferritin deficiency (LFTD) [MIM:615604]: A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency. 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. {ECO:0000269 PubMed:16116125}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FTL

Genetic Association Database (GAD)
FTL
Human Genome Epidemiology (HuGE) Navigator
FTL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FTL
genes like me logo Genes that share disorders with FTL: view

No data available for Genatlas for FTL Gene

Publications for FTL Gene

  1. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. (PMID: 20511138) Millonig G. … Mueller S. (Hum. Genomics 2010) 23 67
  2. Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy. (PMID: 19781644) Cozzi A. … Levi S. (Neurobiol. Dis. 2010) 23 67
  3. A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. (PMID: 19800271) Cao W. … Clarkson M. (Blood Cells Mol. Dis. 2010) 23 67
  4. Silver ion incorporation and nanoparticle formation inside the cavity of Pyrococcus furiosus ferritin: structural and size-distribution analyses. (PMID: 20170158) Kasyutich O. … Ceci P. (J. Am. Chem. Soc. 2010) 23 67
  5. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. (PMID: 19787796) Barton J.C. … Eckfeldt J.H. (Am. J. Hematol. 2009) 23 67

Products for FTL Gene

Sources for FTL Gene

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