CHROMOSOME 2 ERBB4 2q34 GENE VIEW ERBB4 · 2q34 2q33 2q35 rs1972820 — ~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 rs1972820 G / A · ERBB4 · 2q34 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1972820

Gene: ERBB4 — Erb-B2 Receptor Tyrosine Kinase 4 Chr 2:211378697 2q34 3 Prime UTR Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.367409A 0.632591GG 0.135995GA/AG 0.462828AA 0.401177pop=359,896
African G 0.40045A 0.59955GG 0.16139GA/AG 0.478128AA 0.360481pop=40,052
African American G 0.40046A 0.59954GG 0.161593GA/AG 0.477736AA 0.360671pop=38,628
African Others G 0.4003A 0.5997GG 0.155899GA/AG 0.488764AA 0.355337pop=1,424
Asian G 0.2582A 0.7418GG 0.075904GA/AG 0.364615AA 0.559481pop=7,246
East Asian G 0.2497A 0.7503GG 0.072373GA/AG 0.354594AA 0.573034pop=6,052
European G 0.367191A 0.632809GG 0.135258GA/AG 0.463864AA 0.400877pop=285,838
Latin American 1 G 0.3816A 0.6184GG 0.141224GA/AG 0.480826AA 0.37795pop=5,424
Latin American 2 G 0.33941A 0.66059GG 0.116943GA/AG 0.444936AA 0.438122pop=10,860
Other G 0.3522A 0.6478GG 0.122168GA/AG 0.460154AA 0.417678pop=9,888
Other Asian G 0.3015A 0.6985GG 0.093802GA/AG 0.41541AA 0.490787pop=1,194
South Asian G 0.209A 0.791GG 0.040816GA/AG 0.336735AA 0.622449pop=588

Studies39

Unread Studies39
1
PID
Breast cancer (BC) is the most common malignancy in the world. In 5 – 15% of cases, the disease is monogenic, caused by heterozygous germinal mutations in the BRCA1, BRCA2, ATM, BARD1, CHEK2, RAD51D, RAD51C, PALB2 genes. Most cases of BC are multifactorial disease associated with multiple SNPs, many of which are located in the intergenic and intronic regions where genes are located retroelements and the non-coding RNA genes derived from them. The most common retroelements in the human genome are LINEs, whose activation in BC has been determined in a number of scientific publications. The mechanisms of LINE's influence on are described carcinogenesis BC through activation of genomic instability, chromoanagenesis, oncogene formation and inactivation of oncosuppressors. It can be assumed that BC-associated SNPs exert their influence on cancer development by activating and altering the properties of and interacting with LINEs miRNAs. Analysis of the scientific literature confirms this assumption: during BC, a change in the expression of those who descended from retroelements 17 oncogenic miRNAs, which can be used as targets for targeted antitumor therapy. In addition, 21 oncosuppressive derived from LINE have been described miRNAs, which are promising for the treatment of breast cancer. The interaction of 8 descended from LINE is also described miRNAs s long non-coding RNAs, in whose evolution a key role is also played retroelements. Examination of these data may reveal new mechanisms of BC pathogenesis involving LINE, long non-coding RNAs and miRNAs.
2
Pancreatic cancer remains one of the most malignant tumors, characterized by limited treatment efficacy. Main Findings microRNAs (miRNAs) play a crucial role in …
3
Schizophrenia is a multifactorial mental disorder associated with multiple SNPs in the human genome, located mainly outside the annotated protein-coding genes. These regions …
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… An example of the influence of SNP on epigenetic regulation of genes is the rs1972820 polymorphism in the 3’-UTR (untranslated region) of the ERBB4 gene (encodes the tyrosine …
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Materials and methods: This case-control study was conducted on 100 women with breast cancer and 100 healthy women with no history of cancer in 1st and 2nd degree relatives. …
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… efficient detection of local RNA secondary structure changes induced by …
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زمینه سیستم ترمیم بعد از همانند سازی (Mmr) سیستمی حفاظت شده با نقش کلیدی در پایداری ژنتیکی و صحت همانندسازی است. ژن Mlh1 یکی از 4 جز اصلی کمپلکس Mmr است. این مطالعه با …‎
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Ct 40 40 41 84/41 793/0 (633/526-1/0) 927/0 Tt 60 60 57 16/58 793/0 (612/902-0/1) 079/1 C 40 20 41 91/20 821/0 (580/540-0/1) 945/0 T 160 80 155 09/79 821/0 (649/724-0/1) 058/1 …
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Hepatocyte growth factor (HGF) protein regulates cell growth, motility, and morphogenesis in a variety of cells and tissues by binding to the HGF receptor. The rs5745687 …
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In women, breast cancer is a prevalent malignancy. One of the important genes in breast cancer progression is Pinin. LncRNAs H19 plays an important role in breast …
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Breast cancer is one of the main causes of mortality throughout the world, especially in women. Lysine Demethylase 2A (KDM2A) gene is highly expressed in myoepithelial cells of …
12
Breast cancer, as the most common cancer in women which affects patients both mentally and physically, requires great attention in many areas and many levels as this cancer is …
13
… The findings of this study showed that there is no significant relationship between genotypic and allelic distribution of rs1972820 polymorphism of ERBB4 gene with …
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… Based on the results of this study, there is a significant relationship between rs1972820 G allele of ERBB4 gene with reduced risk of breast cancer and can be introduced as a potential …
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A genetic variant may alter a gene expression level and as a result be associated with pathological characteristics in breast cancer. In this research, the frequency and association of the …
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One of the most prevalent cancers in the world and Iran is gastric cancer with a high degree of lethality. There are many environmental factors and genes …
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Acute lymphoblastic leukemia (ALL) is an overgrowth of lymphoid progenitor cells and accounts for the highest common type of childhood cancer. Early detection of ALL could …
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Breast cancer is the most common cancer among women worldwide. HER2-positive breast cancer accounts for nearly 20% of all cases. Upon targeted therapy resistance, …
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Breast cancer is highly prevalent globally and is one of the main causes of cancer-related deaths worldwide. Despite the advances, more insights are needed to decipher …
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A higher expression of MALAT1 has been reported in breast cancer. However, more studies are needed to decipher the mechanisms by which this lncRNA imposes its oncogenic effects…
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PTBP1 is an RNA-binding protein playing role in the control of RNA metabolism. This protein acts a pivotal role in regulating a great number of genes, as it regulates the …
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Gastric cancer is a multifactorial disease. In addition to environmental factors, many genes are involved in this malignancy. One of the genes associated with gastric cancer is …
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MUC4 is aberrantly expressed in several carcinomas including breast, colon, ovarian, lung, prostate, stomach and pancreatic cancers. MUC4 can regulate cell apoptosis negatively and …
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WBP2 is a transcriptional co-activator, which plays a vital role in breast tumorigenesis. It regulates Wnt, ER, and Hippo signaling pathways, which subsequently contributes to cancer …
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Breast cancer is a major cause of cancer-related death in women worldwide. miRNAs are new players of breast tumorigenesis, used as diagnostic and prognostic biomarkers. Among …
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Breast cancer as the second most common cancer worldwide tend to be experienced by Iranian women 10 years earlier with a peak incidence at the premenopausal stage. Genetic …
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Gastric cancer is one of the most significant reasons for cancer-related death. miR-146a is one of the dysregulated factors associated with gastric tumorigenesis. However, …
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Gastric cancer is the third leading cause of cancer-related death worldwide. miR-21 is one of the non-coding RNAs drastically deregulated in gastric cancer. However, the …
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… Furthermore, rs11895168C allele and rs1972820 G allele have been also reported to be associated with the higher and lower risk of breast cancer, respectively, in the Iranian …
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… The association between rs1972820 and the risk of breast cancer in Isfahan population. J Cancer Res Ther 2016; 12(4): 1307-13. …
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Here, we investigated the frequency and association between rs1972820 and breast cancer. Subjects and Methods: The rs1972820 genotypes in 182 samples were collected …
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Triple-negative breast cancer (TNBC) is a subtype of breast cancer with poor prognosis and high heterogeneity. The aim of this study was to screen patients for single-nucleotide …
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… (23) reported that harboring G allele in rs1972820 position, located in 3’UTR of HER4 gene, is significantly associated with decreased risk of breast cancer. Altogether, these data …
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The Association Between Rs1972820 and the Risk of Breast Cancer in Isfahan Population
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miRNAs act as post-transcriptional regulators of gene expression. Genetic variation in miRNA-encoding sequences or their corresponding binding sites may affect the …
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In addition to protein-encoding messenger RNAs (mRNAs), other classes of small RNA molecules exist with specialized regulatory and processing functions. Among these types of regulatory RNAs are microRNAs (miRNAs), short (18-24 nucleotide) non-protein-coding molecules that act as post-transcriptional regulators of gene expressio n 32. The biogenesis of a miRNA begins with transcription from a small, stand-alone gene or an intron or exon of a known protein-coding gene and transitions through a series of conversion steps from hairpin precursors to duplexed pre-miRNA intermediates, and finally, to mature, single-stranded miRNA s 96, 97.
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بررسی ارتباط چندشکلی ژن (rs63749795 C>T) MLH1 با استعداد ابتلا به سرطان پستان Page 1 همانهامود بونج ّبط تسيز هدكشهوژپ سراف جيلخ يكشزپ رهشوب ينامرد يتشادهب تامدخ و يكشزپ …‎
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… The association between rs1972820 and the risk of breast cancer in Isfahan population. Journal of cancer research and therapeutics 13, 26. …
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سابقه و هدف: سرطان معده چهارمين سرطان شايع دنيا و دومين عامل مرگ و مير محسوب مي شود. عوامل محيطي و هم چنين عوامل ژنتيکي، نقش به سزايي در ابتلا و پيشرفت اين بيماري ايفا مي کنند. مهم …‎
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

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