TFQTL2
MCID: TRN072
MIFTS: 17

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 57 29 6
Transferrin Serum Level, Quantitative Trait Locus 2 39
Transferrin Serum Level Qtl2 57
Tfqtl2 57

Classifications:



External Ids:

OMIM® 57 614193

Summaries for Transferrin Serum Level Quantitative Trait Locus 2

MalaCards based summary : Transferrin Serum Level Quantitative Trait Locus 2, also known as transferrin serum level, quantitative trait locus 2, is related to microvascular complications of diabetes 7 and familial porphyria cutanea tarda. An important gene associated with Transferrin Serum Level Quantitative Trait Locus 2 is HFE (Homeostatic Iron Regulator).

More information from OMIM: 614193

Related Diseases for Transferrin Serum Level Quantitative Trait Locus 2

Diseases related to Transferrin Serum Level Quantitative Trait Locus 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microvascular complications of diabetes 7 9.8 HFE-AS1 HFE
2 familial porphyria cutanea tarda 9.7 HFE-AS1 HFE
3 porphyria cutanea tarda 9.7 HFE-AS1 HFE
4 early-onset, autosomal dominant alzheimer disease 9.7 HFE-AS1 HFE
5 alzheimer disease 9.7 HFE-AS1 HFE
6 variegate porphyria 9.7 HFE-AS1 HFE
7 microvascular complications of diabetes 1 9.6 HFE-AS1 HFE
8 hemochromatosis, type 1 9.6 HFE-AS1 HFE
9 cystic fibrosis 9.5 HFE-AS1 HFE

Graphical network of the top 20 diseases related to Transferrin Serum Level Quantitative Trait Locus 2:



Diseases related to Transferrin Serum Level Quantitative Trait Locus 2

Symptoms & Phenotypes for Transferrin Serum Level Quantitative Trait Locus 2

Clinical features from OMIM®:

614193 (Updated 05-Apr-2021)

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 29 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 37)
# Title Authors PMID Year
1
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 57 6
19084217 2009
2
Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study. 57
23794717 2013
3
Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. 6
18566337 2008
4
Iron-overload-related disease in HFE hereditary hemochromatosis. 6
18499578 2008
5
Iron-overload-related disease in HFE hereditary hemochromatosis. 6
18504828 2008
6
Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. 6
16879202 2006
7
Association of porphyria cutanea tarda with hereditary hemochromatosis. 6
15280838 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. 6
15347835 2004
9
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. 6
15060098 2004
10
Hemochromatosis mutations in the general population: iron overload progression rate. 6
15070663 2004
11
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. 6
14729817 2004
12
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 6
12915468 2003
13
A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. 6
14618419 2003
14
Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. 6
12436244 2002
15
The hemochromatosis protein HFE inhibits iron export from macrophages. 6
12429850 2002
16
Clinical haemochromatosis in HFE mutation carriers. 6
12241803 2002
17
Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene. 6
11532995 2001
18
Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. 6
10431233 1999
19
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. 6
10401000 1999
20
The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. 6
10381492 1999
21
Celtic origin of the C282Y mutation of hemochromatosis. 6
9851897 1998
22
Hemochromatosis in Ireland and HFE. 6
9851896 1998
23
The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations. 6
9585606 1998
24
Targeted disruption of the HFE gene. 6
9482831 1998
25
Phenotype-genotype correlation in haemochromatosis subjects. 6
9439654 1997
26
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. 6
9356458 1997
27
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. 6
9341868 1997
28
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. 6
9321765 1997
29
The significance of the 187G (H63D) mutation in hemochromatosis. 6
9326341 1997
30
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 6
9162021 1997
31
Global prevalence of putative haemochromatosis mutations. 6
9138148 1997
32
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. 6
9024376 1997
33
Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. 6
9211748 1997
34
Haemochromatosis and HLA-H. 6
8896549 1996
35
Haemochromatosis and HLA-H. 6
8896550 1996
36
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 6
8696333 1996
37
Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. 6
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 Name Type Significance ClinVarId dbSNP ID Position
1 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) SNV association 9 rs1800562 GRCh37: 6:26093141-26093141
GRCh38: 6:26092913-26092913
2 HFE-AS1 , HFE NM_139011.3(HFE):c.77-2168C>G SNV Pathogenic 10 rs1799945 GRCh37: 6:26091179-26091179
GRCh38: 6:26090951-26090951
3 HFE-AS1 , HFE NM_000410.3(HFE):c.193A>T (p.Ser65Cys) SNV Uncertain significance 11 rs1800730 GRCh37: 6:26091185-26091185
GRCh38: 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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