CHROMOSOME 13 ABCC4 13q32.1 GENE VIEW ABCC4 · 13q32.1 13q31 13q33 rs11568658 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs11568658 Glycine 187 → Tryptophan C / A · ABCC4 · 13q32.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs11568658

Glycine 187 → Tryptophan Gene: ABCC4 — ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group) Chr 13:95210754 13q32.1 500B Downstream Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.972217A 0.027783CC 0.945717CA/AC 0.053001AA 0.001282pop=801,754
African C 0.99405A 0.00595CC 0.988157CA/AC 0.011783AA 0.00006pop=66,368
African American C 0.9939A 0.0061CC 0.987865CA/AC 0.012072AA 0.000062pop=64,114
African Others C 0.9982A 0.0018CC 0.996451CA/AC 0.003549AA 0pop=2,254
Asian C 0.88539A 0.11461CC 0.783797CA/AC 0.203193AA 0.01301pop=16,910
East Asian C 0.87823A 0.12177CC 0.771CA/AC 0.214453AA 0.014547pop=12,786
European C 0.975871A 0.024129CC 0.952349CA/AC 0.047044AA 0.000607pop=642,468
Latin American 1 C 0.96514A 0.03486CC 0.931466CA/AC 0.067342AA 0.001192pop=10,068
Latin American 2 C 0.89806A 0.10194CC 0.808493CA/AC 0.179138AA 0.012369pop=19,404
Other C 0.95784A 0.04216CC 0.918593CA/AC 0.078498AA 0.002909pop=37,810
Other Asian C 0.9076A 0.0924CC 0.823472CA/AC 0.168283AA 0.008244pop=4,124
South Asian C 0.9408A 0.0592CC 0.887463CA/AC 0.106578AA 0.005959pop=8,726

Studies59

Unread Studies59
1
The escalating drug-resistance of Klebsiella pneumoniae (K. pneumoniae), a leading cause of both community-acquired and nosocomial infections, poses a severe threat to global …
2
К 2060 г. прогнозируется увеличение числа пациентов с первичной открытоугольной глаукомой (ПОУГ) до 186,6 млн. Сказанное означает, что необходимо совершенствовать …
3
High HIV/AIDS prevalence in China calls for personalized therapies like pharmacogenomics to improve antiretroviral treatment efficacy. This study explored associations …
4
… (HT) carriers of SNPs rs10306114 and rs11568658 in this gene exhibited a significantly lower … HT patients for the SNP rs11568658 in MRP4 gene had significantly lower IOP response …
5
This study presents a detailed investigation of an undiagnosed patient exhibiting a rare combination of complex diseases, specifically systemic lupus erythematosus (SLE), autoimmune …
6
… of a selected panel of membrane transporter polymorphisms and the evolution of neutrophil counts in 174 renal transplant recipients and found that a variant of ABCC4 (rs11568658) …
7
La proteína de resistencia a múltiples fármacos (MRP4) es un transportador de membrana clave en la expulsión de una amplia gama de sustratos, incluyendo varios agentes …
8
This report describes a pediatric case of isolated agranulocytosis occurring months after hematopoietic stem cell transplantation (HSCT). Secondary cytopenia, or secondary transplant …
9
… Similarly, our analysis revealed two putative deleterious polymorphisms, rs11568658 and rs11568694 in ABCC4 gene, which could potentially affect nateglinide response. These …
10
… In terms of transporters, we detected that the rs11568658 variant of the ABCC4 gene which accounts for 10.6% of the 1KVG, might have impacts on the function of the multidrug …
11
Genetic variations in urate transporters play a significant role in determining human urate levels and have been implicated in developing hyperuricemia or gout. Polymorphism in the …
12
Chronic arsenic toxicity, a global health issue, leads to multiple skin cancers. Only 15–20% of exposed individuals ever develop arsenic-specific skin lesions highlighting the role of …
13
Genetic variations in urate transporters play a significant role in determining human urate levels and have been implicated in developing hyperuricemia or gout. Polymorphism in the …
14
… сионный анализ показал, что гетерозиготные генотипы rs10306114, rs11568658 и … [С]) rs10306114, rs3753380, rs3766355 и rs11568658 коррелируют с ответом на терапию …
15
… A variant within MRP4 (rs11568658) was shown associated with decreasing neutrophil counts … The mechanism that links the MRP4 rs11568658 variant, the intracellular accumulation of …
16
Acute lymphoblastic leukaemia (ALL) is the most common type of paediatric cancer and the drugs used for ALL treatment and maintenance are thiopurines. It has been reported that …
17
Glaucoma is the main cause of irreversible visual loss worldwide, and comprises a group of progressive, age-related, and chronic optic neuropathies. Prostaglandin analogs are …
18
This study aimed to conduct an exploratory analysis of the pharmacogenomic variants involved in ocular hypotensive drugs to understand the individual differential response in an …
19
… This observation was confirmed in another study that reported a significantly higher accumulation of GCV (+290%; P < 0.0001) in cells expressing a nonfunctional variant (rs11568658) …
20
Glaucoma is in the top five age-related eye disorders with increasing prevalence globally. Past research has led to the understanding of glaucoma as a neurodegenerative disease. …
21
Different drug combinations including irinotecan remain some of the most important therapeutic modalities in treating colorectal cancer (CRC). However, chemotherapy often leads to …
22
Tenofovir disoproxil fumarate (TDF), a nucleotide reverse transcriptase inhibitor, after conversion to TFV, is mainly eliminated by glomerular filtration and active tubular secretion. The …
23
Different drug combinations including irinotecan remain some of the most important therapeutic modalities in treating colorectal cancer (CRC). However, chemotherapy often leads to …
24
… In two-locus combination (rs2235076, rs11568658), rs2235076 belongs to gene GRIK2 and rs11568658 is located at gene ABCC4 (MRP4). The protein encoded by ABCC4 is a mem…
25
Numerous drugs are being widely prescribed for COVID-19 treatment without any direct evidence for the drug safety/efficacy in patients across diverse ethnic populations. Materials …
26
Human twin studies and other studies have indicated that chronic pain has heritability that ranges from 30% to 70%. We aimed to identify potential genetic variants that …
27
Le rôle essentiel du foie dans le métabolisme des médicaments l'expose constamment à des molécules au potentiel hépatotoxique important ou capables d'être biotransformées en …
28
Colorectal cancer (CRC) is one of the most prominent causes of cancer death worldwide. Chemotherapeutic regimens consisting of different drugs combinations such as 5-fluorouracil, …
29
Detecting epistasis between single nucleotide poly-morphisms (SNPs) is crucial to explain the missing heritability of complex diseases in genome-wide association studies (GWAS). …
30
Methimazole (MMI) has been used in the therapy of Grave's disease (GD) since 1954, and drug‐induced liver injury (DILI) is one of the most deleterious side effects. Genetic …
31
ATP-binding cassette subfamily G member 2 (ABCG2) is a physiologically important urate transporter. Accumulating evidence demonstrates that congenital dysfunction of ABCG2 is an …
32
Angiogenesis is one hallmark of cancer. Vascular endothelial growth factor (VEGF) is a known inducer of angiogenesis. Many patients benefit from antiangiogenic therapies, which …
33
The ubiquitin-proteasome system (UPS) and autophagy are the two major intracellular protein quality control (PQC) pathways that are responsible for cellular proteostasis (homeostasis …
34
Preventing severe irinotecan-induced adverse reactions would allow us to offer better treatment and improve patients’ quality of life. Transporters, metabolizing enzymes, and genes …
35
Chemotherapy regimens containing 5-fluorouracil (5-FU) or the oral pro-drug capecitabine are often used to treat colorectal cancer patients. Unfortunately, toxicity resulting from …
36
… Other transporters as MRP3 and MRP4 (encoded by ABCC2 and ABCC4 genes, respectively) are expressed in the liver; polymorphisms rs12762549 in MRP2 and rs11568658 in …
37
… Other transporters as MRP3 and MRP4 (encoded by ABCC2 and ABCC4 genes, respectively) are expressed in the liver; polymorphisms rs12762549 in MRP2 and rs11568658 in …
38
… A non-synonymous single nucleotide polymorphism of MRP4 (rs11568658, G187W), which shows reduced transport activity, has been reported associated with misoprostolinduced …
39
… Other transporters as MRP3 and MRP4 (encoded by ABCC2 and ABCC4 genes, respectively) are expressed in the liver; polymorphisms rs12762549 in MRP2 and rs11568658 in …
40
La infección por el virus de la hepatitis B (HBV) constituye un importante problema de salud a nivel mundial, utilizándose análogos de nucleósidos (ANs) y/o inmunomoduladores para …
41
… In both cohorts, we found a variant in ABCC4 (rs11568658) associated with decreased … The efflux process was almost abolished in cells expressing MRP4 rs11568658 variant protein. …
42
We investigated whether ABCB1 variants confer susceptibility to primary open-angle glaucoma and predict individual differences to latanoprost treatment. Methods Between …
43
The mechanism of interaction between drugs or any xenobiotic and membrane is one of thekey factors that affect its biological of action, and so its therapeutic activity. A …
44
… The ABCC4 single nucleotide polymorphism rs11568658 was associated with misoprostol-induced fever. Misoprostol acid was transported across a blood–brain barrier model …
45
Tenofovir disoproxil fumarate (TDF) is a widely used antiretroviral agent with favorable efficacy, safety, and tolerability profiles. However, renal adverse events, including the …
46
Les infections par cytomégalovirus sont un problème majeur en transplantation rénale du fait de l’augmentation du risque de perte de greffon et de l’augmentation de la morbi-mortalité …
47
… The distribution of allelotype rs2290272 C/T and rs11568658 G/G in PPR group were higher than those in CVR [CM (155mm] group (P= 0.043, P= 0.049). Haplotype of C/A/T/C and C/C/…
48
… This study suggests thatMRP4 rs11568658 could be associated with a higher risk to develop neutropenia in transplant patients given GCV. This finding is consistent with previous in …
49
… This study suggests thatMRP4 rs11568658 could be associated with a higher risk to develop neutropenia in transplant patients given GCV. This finding is consistent with previous in …
50
HIV/AIDS has the highest mortality among infectious diseases in China. In ongoing efforts to alleviate this crisis, the national government has placed great emphasis on efforts in Henan …
51
The pharmacogenomics of membrane transporters (PMT) project is in its thirteenth year of NIH funding. First funded in 2000, PMT was competitively renewed in 2005, and again in 2010…
52
Kawasaki disease (KD) is a self limited vasculitis in which host genetics plays a prominent role. To further the understanding of the role of host genetics in KD, a three-stage …
53
Multiple sclerosis (MS) is an inflammatory, demyelinating disease affecting the central nervous system. MS-associated variants have been reported at both HLA and non-HLA loci, the …
54
Small-cell lung cancer (SCLC) carries the worst prognosis among lung cancer diagnoses. Combined radiation and chemotherapy is the standard of care; however, …
55
Multiple drug resistance protein 4 (MRP4, ABCC4) belongs to the C subfamily of the ATP‐binding cassette (ABC) transporter superfamily and participates in the transport of diverse …
56
Determining the functional impact of coding and non-coding single nucleotide polymorphisms (SNPs) is one of the primary challenges in establishing genotype-phenotype relations. …
57
This study presents a detailed investigation of an undiagnosed patient exhibiting a rare combination of complex diseases, specifically systemic lupus erythematosus (SLE), autoimmune …
58
… Por otro lado, los pacientes con la variante rs11568658 (ABCC4) resistieron dosis significativamente menores que aquellos que no la presentan. Adicionalmente, identificamos una …
59
Misoprostol dilisensikan untuk mengobati ulkus gaster. Namun saat ini digunakan luas untuk berbagai macam indikasi dalam bidang obstetrik dan ginekologi. Penggunakan ini dikenal …
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0

No unused studies.