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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FTL Gene

protein-coding GIFtS: 67
GCID: GC19P049468

ferritin, light polypeptide

Explore 52 diseases affiliated with
FTL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ferritin, Light Polypeptide¹ ²		Ferritin L-Chain²
Ferritin L Subunit² ³		Ferritin Light Chain²
NBIA3² ⁵		Ferritin Light Polypeptide-Like 3²
MGC71996¹

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:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FTL gene promoter:
STAT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FTL 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:	49,468,566 bp from pter	End:	49,470,136 bp from pter
Size:	1,571 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P02792

FTL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000137.2

ENSEMBL proteins:

ENSP00000366525

Reactome Protein details: P02792
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for FTL
	Uscn Proteins for FTL

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0008043	intracellular ferritin complex	IDA	--

FTL for ontologies About GeneDecksing

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

FTL for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR009040 Ferritin-like_diiron

IPR012347 Ferritin-rel

IPR001519 Ferritin

IPR014034 Ferritin_CS

IPR009078 Ferritin/RNR-like

Graphical View of Domain Structure for InterPro Entry P02792

ProtoNet protein and cluster: P02792

3 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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)

Genatlas biochemistry entry for FTL:

ferritin,light polypeptide,19kDa,19.9kDa,non-storage protein

miRNA Products:		OriGene 3'-UTR Clone: FTL Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FTL
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FTL (see all 4) OriGene shRNA RFP: FTL OriGene siRNA: FTL
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for FTL

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IDA	--
GO:0008199	ferric iron binding	IEA	--
GO:0016491	oxidoreductase activity	IEA	--
GO:0042802	identical protein binding	IPI	16790936

FTL for ontologies About GeneDecksing

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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Clathrin derived vesicle budding

	Clathrin derived vesicle budding	1.00			Golgi Associated Vesicle Biogenesis	0.89
	trans-Golgi Network Vesicle Budding	1.00

Integrated Pancreatic Cancer Pathway

Integrated Pancreatic Cancer Pathway

1.00

Integrated Pancreatic Cancer Pathway

0.99

Membrane Trafficking

Membrane Trafficking

1.00

Mineral absorption

Mineral absorption

1.00

Insulin receptor recycling

Iron uptake and transport

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for FTL

	Integrated Pancreatic Cancer Pathway
	Integrated Pancreatic Cancer Pathway

5/6 Reactome Pathways for FTL (see all 6)

	Transmembrane transport of small molecules
	Membrane Trafficking
	Clathrin derived vesicle budding
	Golgi Associated Vesicle Biogenesis
	trans-Golgi Network Vesicle Budding

2 Kegg Pathways (Kegg details for FTL):

	Porphyrin and chlorophyll metabolism
	Mineral absorption

FTL for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM 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 (P02792^{1, 2, 3} ENSP00000366525⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 49)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FTL	P02792¹^,²	EBI-713279,EBI-713279 MINT-68335 MINT-63355
PTN	P21246²^,³	MINT-63356 I2D: score=5
MAP3K12	Q12852²^,³	MINT-63358 I2D: score=4
SMAD9	O15198²^,³	MINT-62138 I2D: score=3
NAMPT	P43490²^,³, ENSP00000222553⁴	MINT-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 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:0008219	cell death	IEA	--
GO:0016044	cellular membrane organization	TAS	--

FTL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

1 HMDB Compound for FTL About this table

Compound	Synonyms	CAS #	PubMed Ids
Iron	Armco iron (see all 19)	7439-89-6	--

2 DrugBank Compounds for FTL About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Protoporphyrin Ix	--	553-12-8	target	--	17139284 17016423 10592235
Iron Dextran	Dexferrum (see all 2)	9004-66-4	target	other	17139284 17016423

10/17 Novoseek 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 235 Homo sapiens; Mar 10 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,
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, 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)

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		hsa-miR-22 hsa-miR-133a hsa-miR-133b
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA 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):

AK130205 NM_000146 BC002991 BC004245 AK130191 CR608406 AK131050 AF147331

AK131048 CR610876 Y09188 CR596451 BC067772 BC016354 M11147 AK026534

BC021670 M12938 AK131053 BC062708 BC016346 BC008439 BC058820 BC018990

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTGGGTTC

About this image

FTL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Endoderm-like cells (Generation of hepato...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FTL Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FTL

In Situ
Assay Products:

Search Advanced Cell Diagnostics for 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 last universal common ancestor (LUCA).

Orthologs for FTL gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
tropical clawed frog (Xenopus tropicalis)	Amphibia	MGC75752²	hypothetical protein MGC75752	76.11(n)		BC063337.1
honey bee (Apis mellifera)	Insecta	--	--	41(a)	possible ortholog	Group2.5(688212-689354)
worm (Caenorhabditis elegans)	Secernentea	ftn-2⁶ ftn-1⁶	FerriTiN family member (ftn-1)	50(a) 45(a)	possible ortholog possible ortholog	I(3680181-3680947) V(7545952-7547993)
thale cress (Arabidopsis thaliana)	eudicotyledons	FER3⁶ FER1⁶ (see all 4)	ferritin heavy chain (see all 4)	28(a) 27(a) (see all 4)	many ↔ many many ↔ many (see all 4)	3(20814047-20816035) 5(227953-230051)
rice (Oryza sativa)	Liliopsida	-- --	ferritin-1, chloroplast precursor, putative, expre... ferritin-1, chloroplast precursor, putative, expre...	28(a) 24(a)	many ↔ many many ↔ many	12(319214-322923) 11(303969-306933)
E. coli (Escherichia coli)	Gamma proteobacteria	ftnA⁶ ftnB⁶	ferritin B, probable ferrous iron reservoir	18(a) 17(a)	possible ortholog possible ortholog	Chromosome(1986740-1987237) Chromosome(1984949-1985452)

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

FTHL17² FTMT² FTH1²

5 SIMAP similar genes for FTL using alignment to 6 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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894685^1,2	C	pathogenic	48116251(+)	`CAGACA/GCCATG`	2	T A	mis¹		0	--	--	--	--
rs112593161^1,2		--	45844519(+)	`GCCACG/AGAGAA`	1	--	us2k¹		1		CSA	2
rs73577717^1,2	C,	--	45844913(+)	`AGTCCC/GCGCAA`	1	--	us2k¹		3		WA CSA	121
rs113571360^1,2	C,	--	45845267(+)	`CCCCCC/ACAAGC`	1	--	us2k¹		2		WA	120
rs11553244^1,2	C,F,H	--	45845557(+)	`TTCCAG/ACCTCC`	1	--	ut5¹ ese³		3		NS NA	286
rs11553256^1,2	C	--	45845564(+)	`CTCCGA/CCCGCC`	1	--	ut5¹		2		NA	4
rs11553245^1,2	H	--	45845593(+)	`TTGCAA/GCCTCC`	1	--	ut5¹ ese³		4		NS EA	404
rs11553199^1,2	H	--	45845612(+)	`CTTCTC/TGGCCA`	1	--	ut5¹ ese³		4		NS EA	406
rs11553204^1,2	H	--	45845617(+)	`CGGCCA/GTCTCC`	1	--	ut5¹ ese³		4		NS EA	386
rs11553267^1,2	C,F,H	--	45845624(+)	`CTCCTG/TCTTCT`	1	--	ut5¹ ese³		8		NS EA NA	952

HapMap Linkage Disequilibrium report for FTL (49468566 - 49470136 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for FTL
2 CNVs: 5108 32261
Human Gene Mutation Database (HGMD): FTL

SABiosciences Cancer Mutation PCR Assays

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(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.)
About This Section

FTL for disorders           About GeneDecksing

OMIM gene information: 134790
OMIM disorders: 600886  606159
UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792

Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]. It is an

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

Defects in FTL are the cause of neurodegeneration with brain iron accumulation type 3 (NBIA3) [MIM:606159];

also known as adult-onset basal ganglia disease. It is a movement disorder with heterogeneous presentations starting

in the fourth to sixth decade. It is characterized by a variety of neurological signs including parkinsonism, ataxia,

corticospinal signs, mild nonprogressive cognitive deficit and episodic psychosis. It is linked with decreased serum

ferritin levels

20/52 diseases for FTL (see all 52): About MalaCards

hyperferritinemia-cataract syndrome neurodegenerative disease cataract porphyria cutanea tarda

hypersensitivity reaction type ii disease iron overload restless legs syndrome basal ganglia disease

hemophagocytic lymphohistiocytosis neuroferritinopathy neonatal hemochromatosis autosomal dominant disease

hemochromatosis sickle cell anemia tularemia hemosiderosis

neurodegeneration pneumoconiosis porphyria cystic fibrosis

3 diseases from the University of Copenhagen DISEASES database for FTL:

Tularemia Movement disease Hemochromatosis

10/16 Novoseek 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

Neuroferritinopathy

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 243):
(articles sorted by number of sources associating them with FTL)

Utopia: connect your pdf to the dynamic
world of online information

Structure of human ferritin L chain. (PubMed id 16790936)^{1, 2, 9} Wang Z....Carter D.C. (2006)
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)
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)
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)
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. (PubMed id 16116125)^{1, 2} Maciel P.... Santos M.M. (2005)
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. (PubMed id 15099026)^{1, 4} Vidal R.... Delisle M.B. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Screening of ferritin light polypeptide 460-461InsA mutation in Parkinson's disease patients in North America. (PubMed id 12459518)^{1, 4} Chen R....Chan P. (2002)
Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization. (PubMed id 9526618)^{1, 3} Gasparini P....Zelante L. (1997)
Characterization of the human small-ribosomal-subunit proteins by N- terminal and internal sequencing, and mass spectrometry. (PubMed id 8706699)^{1, 2} Vladimirov S.N.... Otto A. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
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

Name	Description
PharmGKB entry for FTL	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FTL
Wikipedia	http://en.wikipedia.org/wiki/Ferritin

Intellectual Property for FTL gene
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Patent Information for FTL gene:
Search GeneIP for patents involving FTL

GeneCards and IP:
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ferritin, light polypeptide

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FTL Gene

ferritin, light polypeptide

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