Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2512
Gene name	Ferritin light chain
Gene symbol	FTL
Synonyms (NCBI Gene)	FTL1LFTDNBIA3
Chromosome	19
Chromosome location	19q13.33
Summary	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 compos

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230267	T>C	Benign, likely-pathogenic	Synonymous variant, coding sequence variant
rs104894685	G>A	Pathogenic	Coding sequence variant, missense variant
rs139732572	A>G	Pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs199869995	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs201241191	G>A	Likely-benign, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs373178636	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant
rs397514540	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs398124633	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs398124634	G>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs398124635	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs398124636	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs398124637	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs398124638	G>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs398124639	GTCTCT>-	Pathogenic	Inframe deletion, coding sequence variant, 5 prime UTR variant
rs398124640	->GGCCCGGAGGCTGGGC	Pathogenic	Coding sequence variant, frameshift variant
rs587776840	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886037622	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs886037623	T>G	Pathogenic	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs1114167274	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1555796939	GGTCCCGCGGGTCTGTCTCTTGCTTCAAC>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1555797129	CCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

176

Show/Hide all (176)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021706	hsa-miR-133a-3p	Microarray	21396852
MIRT031525	hsa-miR-16-5p	Proteomics	18668040
MIRT021706	hsa-miR-133a-3p	ImmunocytochemistryWestern blot	23969999
MIRT021706	hsa-miR-133a-3p	ImmunocytochemistryWestern blot	23969999
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005671	hsa-miR-3613-3p	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005681	hsa-miR-450b-5p	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005683	hsa-miR-4708-3p	CLIP-seq
MIRT1005684	hsa-miR-4711-5p	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005671	hsa-miR-3613-3p	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005681	hsa-miR-450b-5p	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005683	hsa-miR-4708-3p	CLIP-seq
MIRT1005684	hsa-miR-4711-5p	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT2231658	hsa-miR-24	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005671	hsa-miR-3613-3p	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT2231659	hsa-miR-378g	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT2231660	hsa-miR-4437	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005681	hsa-miR-450b-5p	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT2231661	hsa-miR-4674	CLIP-seq
MIRT1005683	hsa-miR-4708-3p	CLIP-seq
MIRT1005684	hsa-miR-4711-5p	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IDA	19923220, 20159981
GO:0005506	Function	Iron ion binding	TAS	7493028
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 17143515, 18486613, 21516116, 23275563, 23685131, 25327288, 25416956, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006826	Process	Iron ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	TAS	7492760
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008199	Function	Ferric iron binding	IBA
GO:0008199	Function	Ferric iron binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042802	Function	Identical protein binding	IPI	16169070, 16189514, 16790936, 25416956, 25502805, 25910212, 31515488
GO:0044754	Component	Autolysosome	IDA	25327288
GO:0044754	Component	Autolysosome	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070288	Component	Ferritin complex	IDA	19923220, 20159981
GO:0070288	Component	Ferritin complex	TAS	7492760

MIM	HGNC	e!Ensembl
134790	3999	ENSG00000087086

P02792

Protein name

Ferritin light chain (Ferritin L subunit)

Protein 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 u

PDB

2FFX , 2FG4 , 2FG8 , 3KXU , 4V6B , 5LG8 , 6TR9 , 6TS0 , 6TS1 , 6TSA , 6TSF , 6TSJ , 6WX6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00210	Ferritin	14 → 155	Ferritin-like domain	Domain

Sequence

MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSHFFRELAEEKR
EGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAAMALEKKLNQALLDLHALGSA
RTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEAGLGEYLFERLTLKHD

Sequence length

175

Interactions

View interactions

	KEGG		Reactome
	Porphyrin metabolism Ferroptosis Necroptosis Mineral absorption		Golgi Associated Vesicle Biogenesis Neutrophil degranulation Iron uptake and transport

318

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FTL-related disorder	Likely pathogenic; Pathogenic	rs398124635	RCV004751214 RCV003398536 RCV004751215
Hereditary hyperferritinemia with congenital cataracts	Pathogenic; Likely pathogenic	rs398124637, rs2122429764, rs398124636, rs2038438612, rs2122436083, rs2122429855, rs2513694164, rs2513696390, rs398124633, rs398124634, rs398124635, rs1555796939, rs398124638, rs398124639, rs398124640 View all (3 more)	RCV000082859 RCV001360710 RCV001779413 RCV003094061 RCV003096106 RCV003041377 RCV002637620 RCV002903025 RCV000017938 RCV000017939 RCV000017940 RCV000017942 RCV000017943 RCV000017944 RCV000817309 RCV000017946 RCV000017948 RCV000017949 RCV005222690 RCV000032783 RCV000802043 RCV001238029
L-ferritin deficiency	Likely pathogenic; Pathogenic	rs398124636, rs398124638	RCV002482882 RCV002482883
L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE	Pathogenic	rs199869995	RCV000082858
Neuroferritinopathy	Likely pathogenic; Pathogenic	rs2122429764, rs2122436225, rs2038438612, rs2122436083, rs2122429855, rs2513694164, rs2513696390, rs398124633, rs398124635, rs398124636, rs398124637, rs398124638, rs104894685, rs1114167274, rs398124640 View all (3 more)	RCV001360710 RCV001775440 RCV003094061 RCV002269810 RCV003041377 RCV002637620 RCV002903025 RCV001061778 RCV001380757 RCV001386171 RCV001036071 RCV000817309 RCV002482883 RCV002513089 RCV000017950 RCV000017951 RCV000017952 RCV000017953 RCV000802043 RCV001238029
See cases	Likely pathogenic; Pathogenic	rs398124635	RCV005887535

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs886037623	-
sporadic abdominal aortic aneurysm	Conflicting classifications of pathogenicity	rs201241191	RCV000144502

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	33597025
Arthritis Rheumatoid	Associate	9122163
Asthma Occupational	Inhibit	20345975
Ataxia	Associate	16116125
Brain Neoplasms	Associate	28837569
Breast Neoplasms	Associate	22355776, 22552268
Carcinoma Hepatocellular	Associate	31432149, 39528670
Carcinoma Pancreatic Ductal	Associate	40019403
Cataract	Associate	15283633, 16518306, 21139976, 24003015, 28636169, 28746593, 36287435, 37569253, 9226182
Cataract	Stimulate	34064225
Cognition Disorders	Associate	16116125, 29186589
Colorectal Neoplasms	Associate	37086630
Corneal Opacity	Associate	37569253
Corticobasal Degeneration	Associate	40082954
Cysts	Associate	24225180
Dementia Vascular	Associate	24448401
Diabetic Nephropathies	Inhibit	37150518
Esophageal Squamous Cell Carcinoma	Associate	33176591
Genetic Diseases Inborn	Associate	28636169
Gestational Trophoblastic Disease	Associate	16222695
Glioblastoma	Stimulate	26871431, 37441589
Glioblastoma	Associate	28837569
Glioma	Associate	23029420, 32484805, 33864445, 37441589
Hearing Loss Bilateral	Associate	16116125
Hemochromatosis	Associate	24003015
Hepatitis B	Associate	22552268
Huntington Disease	Associate	16858508
Hydatidiform Mole	Associate	16222695
Hyperferritinemia	Associate	15283633, 16518306, 19176363, 34064225, 37569253
Hyperferritinemia hereditary with congenital cataracts	Associate	15283633, 19176363, 21139976, 21541272, 24003015, 27096259, 28636169, 28746593, 30401656, 34064225, 36287435, 37569253, 7492760, 9226182, 9292547, 9596665 View all (1 more)
Hypoalphalipoproteinemias	Associate	16858508
Hypoxia	Associate	15026807
Hypoxia Brain	Associate	18160403
Idiopathic Pulmonary Fibrosis	Inhibit	35326483
Inflammation	Associate	23029420
Inflammatory Bowel Diseases	Associate	9122163
Leukemia Myeloid Acute	Associate	33284559
Lung Neoplasms	Associate	29576497
Lymphoma Non Hodgkin	Associate	32484805
Mesothelioma Malignant	Associate	31442913
Myelodysplastic Syndromes	Associate	32705249
Nasopharyngeal Carcinoma	Associate	16308470
Neoplasm Metastasis	Associate	29771443
Neoplasms	Associate	23029420, 28216608, 28837569, 32484805, 33864445
Neoplasms	Inhibit	29771443
Neoplastic Syndromes Hereditary	Associate	29269865, 37660254
Neurodegenerative Diseases	Associate	22348978
Neuroferritinopathy	Associate	16116125, 22278127, 22499840, 24825732, 26142024, 33244127
Osteosarcoma	Associate	17660802
Osteosarcoma	Inhibit	29771443
Pancytopenia	Associate	32705249, 35572557
Pantothenate Kinase Associated Neurodegeneration	Associate	16116125, 28821231, 39419454
Parkinson Disease Secondary	Associate	16116125
Prostatic Hyperplasia	Associate	28730787
Prostatic Neoplasms	Associate	28730787
Psychotic Disorders	Associate	16116125
Respiratory Sounds	Stimulate	37353771
Silicosis	Stimulate	35176813
Spinocerebellar Ataxia 17	Associate	16858508
Squamous Cell Carcinoma of Head and Neck	Associate	33864445
Thymoma	Associate	36991043

FTL (ferritin light chain)