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Gene Symbol |
CDX2 |
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Aliases |
CDX-3, CDX2/AS, CDX3 |
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Entrez Gene ID |
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Gene Name |
Caudal type homeobox 2 |
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Chromosomal Location |
13q12.2 |
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HGNC ID |
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Summary |
This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]
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e!Ensembl
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| Protein Information |
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Protein Name |
Homeobox protein CDX-2, caudal type homeobox transcription factor 2, caudal-type homeobox protein 2, homeobox protein miniCDX2 |
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Function |
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Involved in the transcriptional regulation of multiple genes expressed in the intestinal epithelium. Important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine. Binds preferentially to methylated DNA (PubMed:28473536). |
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UniProt |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
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Q9ULZ1 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Skeletal Dysplasia |
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| Digestive System Diseases |
| Colitis |
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| Inflammatory Bowel Diseases |
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| Cholelithiasis |
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| Gastritis |
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| Gastroesophageal reflux disease |
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| Esophagitis |
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| Endocrine System Diseases |
| PCOS |
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| Dwarfism |
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| Immune System Diseases |
| Allergic rhinitis |
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| Neoplasms |
| Colonic Neoplasms |
26789870, 28328000, 30425348, 12404231, 26902420, 31584928, 28627695, 26910375, 15774940, 13679455, 12947088, 21626348, 20699370, 11889074, 18819935, 22719836, 9396760, 19734199, 17599044, 26849302, 16314840, 22202456, 21224344, 14625550, 11997022, 14500396, 23045284, 11521200, 1521 |
| Colorectal Cancer |
30257705, 29900672, 29924451, 29519711, 29675807, 9036867, 28819729, 27754705, 30326864, 29241727, 30616445, 30847807, 25663765, 27726953, 19221108, 25126956, 23574843, 24908142, 19584150, 24166180, 18581275, 22849325, 20514449, 15994917, 25847407, 29281831, 15114262, 11743638, 1617 |
| Teratomas |
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| Carcinoma |
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| Neoplasms |
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| Leukemia |
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| Gastric Cancer |
25881601, 26238762, 27913994, 19212618, 15929165, 22783055, 16144916, 29556617, 23546539, 25300947, 27382937, 19371634, 18251778, 14557879, 15498792, 19159573, 24744585, 18353622, 23613102, 22563170, 24797991, 21036460, 25228975, 23828549, 18184409, 22157086, 25738600, 16803685, 163 |
| Myeloid Leukemia |
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| Genital Neoplasms, Male |
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| Pancreatic Neoplasm |
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| Lung Cancer |
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| Adenocarcinoma Of Large Intestine |
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| Adenoma |
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| Liver Cancer |
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| Gastrointestinal Cancer |
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| Breast Cancer |
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| Ampullary Cancer |
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| Bile Duct Cancer |
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| Ovarian Adenocarcinoma |
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| Esophagus Neoplasm |
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| Intestinal Cancer |
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| Adenocarcinoma |
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| Thyroid Cancer |
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| Choriocarcinoma |
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| Hematologic Neoplasms |
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| Adenocarcinoma of Prostate |
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| Prostate cancer |
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| Cervical Cancer |
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| Pancreatic Cyst |
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| Squamous Cell Carcinoma |
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| Hematopoietic Neoplasms |
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| Pulmonary Adenocarcinoma |
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| Intrahepatic Cholangiocarcinoma |
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| Focal Adenocarcinoma |
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| Ovarian Cysts |
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| Endometrial Cancer |
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| Pancreatic Ductal Adenocarcinoma |
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| Vulvar Cancer |
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| Nervous System Diseases |
| Muscular Dystrophy |
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| Renal Disorder |
| Nephrolithiasis |
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| Reproductive disorders |
| Cystitis |
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| Skin and Connective Tissue Diseases |
| Psoriasis |
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| Erythroderma |
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References |
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| Wehr Elisabeth, Trummer Olivia, Giuliani Albrecht, Gruber Hans-Jurgen, Pieber Thomas R, Obermayer-Pietsch Barbara |
| Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, 8036 Graz, Austria. elisabeth.wehr@medunigraz.at |
| Eur J Endocrinol. 2011 May;164(5):741-9. doi: 10.1530/EJE-11-0134. Epub 2011 Mar |
Abstract
INTRODUCTION: Women with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances including insulin resistance (IR), which might be related to vitamin D metabolism. We aimed to investigate the association of polymorphisms in the vitamin D receptor (VDR) gene as well as vitamin D level-associated genes with metabolic and endocrine parameters in PCOS women. Moreover, we examined whether there are associations with PCOS susceptibility. METHODS: Metabolic, endocrine, and anthropometric measurements and oral glucose tolerance tests were performed in 545 PCOS and 145 control women. Genotyping of VDR (Cdx2, Bsm-I, Fok-I, Apa-I, and Taq-I), GC, DHCR7, and CYP2R1 polymorphisms was performed. RESULTS: 25-Hydroxyvitamin D (25(OH)D) levels showed significant negative correlation with IR and positive correlation with insulin sensitivity (P<0.05 for all) in PCOS women. In PCOS women, the VDR Cdx2 'AA' genotype was associated with lower fasting insulin (P=0.039) and homeostatic model assessment-IR (P=0.041) and higher quantitative insulin-sensitivity check index (P=0.012) and MATSUDA index (P=0.003). The VDR Apa-I 'AA' genotype was associated with lower testosterone (P=0.028) levels. In PCOS women, 170 women (31.2%) presented with 25(OH)D levels <20 ng/ml. PCOS women carrying the GC 'GG' genotype and the DHCR7 'GG' genotype had a significantly higher risk for 25(OH)D levels <20 ng/ml (OR 2.53 (1.27-5.06), P=0.009, and OR 2.66 (1.08-6.55), P=0.033 respectively) compared with PCOS women carrying the GC 'TT' genotype and DHCR 'TT' genotype in multivariate analyses. We observed no association of genetic variations and PCOS susceptibility. CONCLUSION: VDR and vitamin D level-related variants are associated with metabolic and endocrine parameters including 25(OH)D levels in PCOS women. |
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