RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Sensory and Autonomic Neuropathies
0.520 GeneticVariation group BEFREE Mutations in FAM134B associated with hereditary sensory and autonomic neuropathy type IIB (HSAN IIB). 29226326 2018
Hereditary Sensory and Autonomic Neuropathies
0.520 GeneticVariation group BEFREE Assessment of the variants detected by mapped sequencing reads followed by Sanger confirmation revealed that the proband is a compound heterozygote for rare variants within RETREG1 (FAM134B), a gene associated with a recessive form of hereditary sensory and autonomic neuropathy, but not with epileptic encephalopathy or global developmental delay. 31475481 2019
Hereditary Sensory Autonomic Neuropathy, Type 2
0.410 GeneticVariation disease BEFREE Although mutations in FAM134B and the HSN2 exon of WNK1 were associated with HSANII, the etiology of a substantial number of cases remains unexplained. 21820098 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Overexpression of FAM134B was significantly associated with tumor size (P = 0.025), pathological vascular invasion (P = 0.026), differentiation grade (P = 0.023), cancer recurrence (P = 0.044), and portal vein tumor thrombus (P = 0.036) in HCC. 30556279 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Overexpression of FAM134B mRNA and protein was present in 31.2% (n = 29/93) and 36.6% (n = 41/112), respectively, in tumors, whereas downregulation occurred in 39.8% (n = 37/93) and 63.4% (n = 71/112), respectively. 30794892 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In cancer, FAM134B acts as a tumor suppressor and inhibit cancer growth both in-vitro and in-vivo. 29226326 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Recent work has exhibited that FAM134B plays a pivotal role in autophagy-mediated turnover of endoplasmic reticulum (ER) membranes, tumor inhibition and lipid homeostasis. 31446166 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE FAM134B is a putative tumour suppressor gene and no mutations in FAM134B have been reported in colorectal cancer (CRC) to date. 28144752 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE In colorectal adenocarcinomas, lower levels of JK-1(FAM134B) protein expression were associated with younger age (p=0.032), larger tumour size (p=0.004), advanced cancer stages (p=0.016) and higher rates of cancer recurrence (p=0.04). 24973512 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The miR-186-5p expression promotes colorectal cancer pathogenesis by regulating tumour suppressor FAM134B. 28549913 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Recent work has shown that FAM134B plays a pivotal role in autophagy-mediated turnover of endoplasmic reticulum (ER) membranes, tumor inhibition and lipid homeostasis. 30291780 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 PosttranslationalModification group BEFREE Promoter hypermethylation inactivate tumor suppressor FAM134B and is associated with poor prognosis in colorectal cancer. 29318692 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Stage dependent expression and tumor suppressive function of FAM134B (JK1) in colon cancer. 27120410 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 Biomarker group BEFREE FAM134B is an autophagy regulator of endoplasmic reticulum and acts as a cancer suppressor in colon cancer. 29964340 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 GeneticVariation group BEFREE In addition, FAM134B mutations were associated with various clinical and pathological variables, including sex of the patients, presence of metachronous cancer, size, T staging, presence of distant metastases, and positivity of microsatellite instability (MSI) in the cancer (p < 0.05). 28144752 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 Biomarker group BEFREE In cancer, FAM134B acts as a tumor suppressor and inhibit cancer growth both in-vitro and in-vivo. 29226326 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 GeneticVariation group BEFREE This is the first study showing significant correlations of the JK-1 (FAM134B) gene copy number alterations with clinical and pathological features in a large cohort of pre-invasive and invasive colorectal malignancies. 24825067 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 GeneticVariation group BEFREE FAM134B mutation is still unexplored in cancer. 27373372 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 Biomarker group BEFREE To conclude, expression analysis, in vitro and in vivo indicated that FAM134B acts as a cancer suppressor gene in colon cancer. 27120410 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 AlteredExpression group BEFREE Our method has demonstrated good sensitivity (LOD = 1.0pM) and reproducibility (% RSD = <5%, for n = 3) for detecting FAM134B mRNA in two cancer cell lines and a small cohort of clinical samples (number of samples = 26) collected from patients with oesophageal cancer. 28688308 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.060 Biomarker disease BEFREE JK1 (FAM134B) represses cell migration in colon cancer: a functional study of a novel gene. 24927874 2014
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.060 Biomarker disease BEFREE Herein, this study aims to determine the interacting partners of FAM134B for the first time in colon cancer and to explore the precise location of FAM134B in cancer signalling pathways. 29964340 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.060 PosttranslationalModification disease BEFREE Methylation-specific high-resolution melt-curve analysis followed by sequencing was used to identify FAM134B promoter methylation in colorectal adenomas (N = 32), colorectal adenocarcinomas (N = 164), matched adjacent non-neoplastic colorectal mucosae (N = 83) and colon cancer cell lines (N = 4). 29318692 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.060 Biomarker disease BEFREE We found excellent sensitivity and specificity for the analysis of FAM134B protein in a panel of colon cancer cell lines and serum samples. 28273937 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.060 Biomarker disease BEFREE To conclude, expression analysis, in vitro and in vivo indicated that FAM134B acts as a cancer suppressor gene in colon cancer. 27120410 2017