TFQTL2
MCID: TRN072
MIFTS: 13

Transferrin Serum Level Quantitative Trait Locus 2 (TFQTL2)

Categories: Genetic diseases

Aliases & Classifications for Transferrin Serum Level Quantitative Trait Locus 2

MalaCards integrated aliases for Transferrin Serum Level Quantitative Trait Locus 2:

Name: Transferrin Serum Level Quantitative Trait Locus 2 58 30 6
Transferrin Serum Level, Quantitative Trait Locus 2 41
Transferrin Serum Level Qtl2 58
Tfqtl2 58

Classifications:



External Ids:

OMIM 58 614193

Summaries for Transferrin Serum Level Quantitative Trait Locus 2

MalaCards based summary : Transferrin Serum Level Quantitative Trait Locus 2, is also known as transferrin serum level, quantitative trait locus 2. An important gene associated with Transferrin Serum Level Quantitative Trait Locus 2 is HFE (Homeostatic Iron Regulator).

Description from OMIM: 614193

Related Diseases for Transferrin Serum Level Quantitative Trait Locus 2

Symptoms & Phenotypes for Transferrin Serum Level Quantitative Trait Locus 2

Clinical features from OMIM:

614193

Drugs & Therapeutics for Transferrin Serum Level Quantitative Trait Locus 2

Search Clinical Trials , NIH Clinical Center for Transferrin Serum Level Quantitative Trait Locus 2

Genetic Tests for Transferrin Serum Level Quantitative Trait Locus 2

Genetic tests related to Transferrin Serum Level Quantitative Trait Locus 2:

# Genetic test Affiliating Genes
1 Transferrin Serum Level Quantitative Trait Locus 2 30 HFE

Anatomical Context for Transferrin Serum Level Quantitative Trait Locus 2

Publications for Transferrin Serum Level Quantitative Trait Locus 2

Articles related to Transferrin Serum Level Quantitative Trait Locus 2:

(show all 36)
# Title Authors Year
1
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. ( 19084217 )
2009
2
Iron-overload-related disease in HFE hereditary hemochromatosis. ( 18499578 )
2008
3
Iron-overload-related disease in HFE hereditary hemochromatosis. ( 18504828 )
2008
4
Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. ( 18566337 )
2008
5
Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. ( 16879202 )
2006
6
Association of porphyria cutanea tarda with hereditary hemochromatosis. ( 15280838 )
2004
7
Hemochromatosis mutations in the general population: iron overload progression rate. ( 15070663 )
2004
8
The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. ( 15347835 )
2004
9
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. ( 14729817 )
2004
10
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. ( 15060098 )
2004
11
A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. ( 14618419 )
2003
12
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. ( 12915468 )
2003
13
The hemochromatosis protein HFE inhibits iron export from macrophages. ( 12429850 )
2002
14
Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. ( 12436244 )
2002
15
Clinical haemochromatosis in HFE mutation carriers. ( 12241803 )
2002
16
Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene. ( 11532995 )
2001
17
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. ( 10401000 )
1999
18
The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. ( 10381492 )
1999
19
Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. ( 10431233 )
1999
20
Hemochromatosis in Ireland and HFE. ( 9851896 )
1998
21
Celtic origin of the C282Y mutation of hemochromatosis. ( 9851897 )
1998
22
The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations. ( 9585606 )
1998
23
Targeted disruption of the HFE gene. ( 9482831 )
1998
24
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. ( 9024376 )
1997
25
The significance of the 187G (H63D) mutation in hemochromatosis. ( 9326341 )
1997
26
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. ( 9341868 )
1997
27
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. ( 9356458 )
1997
28
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. ( 9162021 )
1997
29
Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. ( 9211748 )
1997
30
Global prevalence of putative haemochromatosis mutations. ( 9138148 )
1997
31
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. ( 9321765 )
1997
32
Phenotype-genotype correlation in haemochromatosis subjects. ( 9439654 )
1997
33
Haemochromatosis and HLA-H. ( 8896550 )
1996
34
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. ( 8696333 )
1996
35
Haemochromatosis and HLA-H. ( 8896549 )
1996
36
Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. ( 678784 )
1978

Variations for Transferrin Serum Level Quantitative Trait Locus 2

ClinVar genetic disease variations for Transferrin Serum Level Quantitative Trait Locus 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh37 Chromosome 6, 26093141: 26093141
2 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh38 Chromosome 6, 26092913: 26092913
3 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic,risk factor rs1799945 GRCh37 Chromosome 6, 26091179: 26091179
4 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic,risk factor rs1799945 GRCh38 Chromosome 6, 26090951: 26090951
5 HFE NM_000410.3(HFE): c.193A> T (p.Ser65Cys) single nucleotide variant Uncertain significance rs1800730 GRCh37 Chromosome 6, 26091185: 26091185
6 HFE NM_000410.3(HFE): c.193A> T (p.Ser65Cys) single nucleotide variant Uncertain significance rs1800730 GRCh38 Chromosome 6, 26090957: 26090957

Expression for Transferrin Serum Level Quantitative Trait Locus 2

Search GEO for disease gene expression data for Transferrin Serum Level Quantitative Trait Locus 2.

Pathways for Transferrin Serum Level Quantitative Trait Locus 2

GO Terms for Transferrin Serum Level Quantitative Trait Locus 2

Sources for Transferrin Serum Level Quantitative Trait Locus 2

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