Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FTL Gene

Aliases for FTL Gene

  • Ferritin Light Chain 2 2 3 5
  • Ferritin L Subunit 2 3 4
  • Ferritin Light Polypeptide-Like 3 2 3
  • Ferritin, Light Polypeptide 2 3
  • Ferritin L-Chain 2 3
  • Neurodegeneration With Brain Iron Accumulation 3 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 Chain) 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Innate Immune System. GO annotations related to this gene include identical protein binding and ferric iron binding. An important paralog of this gene is FTH1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FTL Gene

Genomics for FTL Gene

Regulatory Elements for FTL Gene

Enhancers for FTL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G048988 1.6 FANTOM5 ENCODE 12 +26.8 26753 7.2 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 GRWD1 NUP62 PRR12 SNORD35A PIH1D1 KDELR1 AKT1S1 ALDH16A1 SNORD35B LOC101059948
GH19G048898 1.1 ENCODE 11.3 -65.1 -65060 3.8 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 NUCB1 TULP2 PPP1R15A PLEKHA4 BAX FTL SEC1P DBP IRF3 NUCB1-AS1
GH19G048958 2.1 FANTOM5 Ensembl ENCODE dbSUPER 2.4 -1.3 -1272 10.2 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 PPP1R15A PRR12 NUP62 IZUMO1 RUVBL2 CA11 SEC1P SNORD35B C19orf68 ALDH16A1
GH19G048924 1.6 FANTOM5 Ensembl ENCODE 2.5 -39.0 -38997 3.4 HDGF ATF1 PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZNF121 GLIS2 FOS NUCB1 PPP1R15A IZUMO1 FTL ENSG00000260366 GC19P048927
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FTL on UCSC Golden Path with GeneCards custom track

Promoters for FTL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110810 599 2601 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21

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

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

Genes around FTL on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for FTL Gene

  • Ubiquitination at Lys68
  • 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

Gene 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 :
  • Belongs to the ferritin family.
Family:
  • Belongs to the ferritin family.
genes like me logo Genes that share domains with FTL: view

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
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FTL: view
genes like me logo Genes that share phenotypes with FTL: view

Human Phenotype Ontology for FTL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FTL Gene

miRTarBase miRNAs that target FTL

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FTL

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FTL gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 5
mitochondrion 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol TAS --
GO:0008043 intracellular ferritin complex IDA,TAS 19923220
GO:0016020 membrane IDA 19946888
GO:0035578 azurophil granule lumen TAS --
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:0006880 intracellular sequestering of iron ion IBA --
GO:0043312 neutrophil degranulation 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

(14) Drugs for FTL Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gallium citrate Ga-67 Approved Pharma Transporter, substrate 0
Iron Dextran Approved, Vet_approved Pharma Target, other 0
Sodium ferric gluconate complex Approved Pharma Target, binder 0
Protoporphyrin IX Experimental Pharma Target 9

(8) 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
genes like me logo Genes that share compounds with FTL: view

Transcripts for FTL Gene

mRNA/cDNA for FTL Gene

(1) REFSEQ mRNAs :
(30) Additional mRNA sequences :
(32) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FTL Gene

Ferritin, light polypeptide:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FTL

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FTL Gene



Protein tissue co-expression partners for FTL Gene

NURSA nuclear receptor signaling pathways regulating expression of FTL Gene:

FTL

SOURCE GeneReport for Unigene cluster for FTL Gene:

Hs.433670

Evidence on tissue expression from TISSUES for FTL Gene

  • Intestine(5)
  • Kidney(5)
  • Liver(5)
  • Lung(5)
  • Skin(5)
  • Nervous system(5)
  • Blood(4.9)
  • Pancreas(4.9)
  • Eye(4.7)
  • Spleen(4.6)
  • Heart(4.5)
  • Bone(4.4)
  • Muscle(4.1)
  • Stomach(3.6)
  • Gall bladder(3)
  • Thyroid gland(2.9)
  • Bone marrow(2.8)
  • Lymph node(2.8)
  • Adrenal gland(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FTL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • larynx
  • mouth
  • neck
  • pharynx
  • vocal cord
Thorax:
  • esophagus
  • trachea
Abdomen:
  • liver
  • stomach
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
  • wrist
General:
  • blood
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with FTL: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia FTL 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia LOC102155200 34
  • 88.38 (n)
FTL 35 35
  • 87 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LOC788801 34
  • 87.05 (n)
FTL 35
  • 84 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
-- 35
  • 49 (a)
OneToMany
-- 35
  • 47 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ftl1 34
  • 85.33 (n)
mouse
(Mus musculus)
Mammalia Ftl1 34 35
  • 84.57 (n)
Gm10116 35
  • 78 (a)
OneToMany
Ftl1-ps2 16
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 51 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
-- 35
  • 44 (a)
OneToMany
-- 35
  • 38 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FTL 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves FTD 35
  • 21 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FTL 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75752 34 34
  • 64.31 (n)
zebrafish
(Danio rerio)
Actinopterygii FTL 35
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fer3HCH 35
  • 33 (a)
OneToMany
Fer1HCH 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ftn-2 35
  • 49 (a)
OneToMany
ftn-1 35
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11041 35
  • 42 (a)
OneToOne
Species where no ortholog for FTL was found in the sources mined by GeneCards:
  • 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

Variants for FTL Gene

Sequence variations from dbSNP and Humsavar for FTL Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894685 Pathogenic, Neurodegeneration with brain iron accumulation 3 (NBIA3) [MIM:606159] 48,966,317(+) CAGAC(A/G)CCATG reference, missense
rs397514540 Pathogenic, Hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886] 48,965,596(+) CTACA(C/T)CTACC reference, missense
rs139732572 Pathogenic 48,965,508(+) CAACC(A/G)TGAGC reference, missense
rs199869995 Pathogenic 48,966,341(+) CCCTG(C/G/T)AGAAA reference, stop-gained
rs398124633 Pathogenic 48,965,348(+) TCAAC(A/G)GTGTT utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv3618n100 CNV gain 25217958
nsv833856 CNV loss 17160897
nsv833857 CNV loss 17160897
nsv953598 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for FTL Gene

Residual Variation Intolerance Score: 23.6% 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

Human Gene Mutation Database (HGMD)
FTL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FTL

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

Disorders for FTL Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
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. {ECO:0000269 PubMed:23940258}. 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. A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. (PMID: 19176363) Kannengiesser C. … Beaumont C. (Haematologica 2009) 3 4 22 64
  2. Structure of human ferritin L chain. (PMID: 16790936) Wang Z. … Carter D.C. (Acta Crystallogr. D 2006) 3 4 22 64
  3. Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. (PMID: 14615048) Felletschin B. … Berg D. (Neurosci. Lett. 2003) 3 22 46 64
  4. Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration. (PMID: 19923220) Baraibar M.A. … Vidal R. (J. Biol. Chem. 2010) 3 4 64
  5. Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation. (PMID: 20159981) Luscieti S. … Arosio P. (J. Biol. Chem. 2010) 3 4 64

Products for FTL Gene

  • Addgene plasmids for FTL

Sources for FTL Gene

Content
Loading form....