RNF40, ring finger protein 40, 9810

N. diseases: 17; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus
0.200 Biomarker disease RGD E3 ubiquitin-protein ligases in rat kidney collecting duct: response to vasopressin stimulation and withdrawal. 21734099 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.040 Biomarker disease BEFREE A stable cell line was established from MCF10AT3B cells that ectopically expresses the retinoblastoma suppressor (Rb)-associated protein 46 (RbAp46), a component of the histone modifying and remodeling complexes. 17970062 2007
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.040 Biomarker disease BEFREE The retinoblastoma suppressor (Rb)-associated protein 46 (RbAp46) is a member of the WD-repeat protein family and a component of the histone modifying and remodeling complexes. 11394910 2001
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.040 Biomarker disease BEFREE The retinoblastoma suppressor (Rb)-associated protein 46 (RbAp46) is a nuclear protein of the WD-repeat protein family and a component of the histone deacetylase complex that physically interacts with Rb. 11433396 2001
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.040 Biomarker disease BEFREE The gene was identified as retinoblastoma suppressor (Rb)-associated protein 46 (RbAp46), a nuclear protein that interacts physically with Rb and is a component of the human mSin3 co-repressor complex. 9765217 1998
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE Loss of RNF40 Decreases NF-κB Activity in Colorectal Cancer Cells and Reduces Colitis Burden in Mice. 30321325 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE We evaluated the effects of RNF40 depletion in several human CRC cell lines in vitro. 31266541 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 AlteredExpression group BEFREE An exciting really interesting new gene (RING) family of E3 ubiquitin ligases, known as RNF20 and RNF40, monoubiquitinates histone H2A at K119 or H2B at K120, is known to function in transcriptional elongation, DNA double-strand break (DSB) repair processes, maintenance of chromatin differentiation, and exerting tumor suppressor activity. 29934362 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 AlteredExpression group BEFREE We found that RNF20 and RNF40 expression and global H2Bub1 are relatively low, and USP44 expression is relatively high, in basal-like breast tumors compared with luminal tumors. 28157208 2017
CUI: C0009319
Disease: Colitis
Colitis
0.010 Biomarker disease BEFREE Finally, we examined the effect of a colon-specific loss of Rnf40 in a murine model of colitis, and assessed both local and systemic inflammation-associated consequences. 30321325 2019
CUI: C2118460
Disease: Acute colitis
Acute colitis
0.010 GeneticVariation disease BEFREE Consistently, the colon-specific loss of Rnf40 exerted a protective local, as well as systemic, effect following acute colitis. 30321325 2019
Malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE Loss of RNF40 Decreases NF-κB Activity in Colorectal Cancer Cells and Reduces Colitis Burden in Mice. 30321325 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 GeneticVariation phenotype BEFREE The PHKG2 and RNF40 genes are either overlapping or close to the sequences of SCAR marker BC13-4, while SCAR marker BC10-1 is in the intron and overlap the DPEP1 gene, suggesting that alterations in the expression of these genes could contribute to cancer progression. 28410206 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 AlteredExpression group BEFREE We found that RNF20 and RNF40 expression and global H2Bub1 are relatively low, and USP44 expression is relatively high, in basal-like breast tumors compared with luminal tumors. 28157208 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE We now report that the chromatin-targeting E3 ubiquitin ligase RNF20/RNF40, driving histone H2B monoubiquitylation (H2Bub1), modulates inflammation and inflammation-associated cancer in mice and humans. 26854224 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE We now report that the chromatin-targeting E3 ubiquitin ligase RNF20/RNF40, driving histone H2B monoubiquitylation (H2Bub1), modulates inflammation and inflammation-associated cancer in mice and humans. 26854224 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE RNF40 is located at 16p11.2, a region implicated in autism and schizophrenia. 21647175 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 Biomarker disease BEFREE RNF40 is located at 16p11.2, a region implicated in autism and schizophrenia. 21647175 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 Biomarker disease BEFREE Histone H2B ubiquitin ligases RNF20 and RNF40 in androgen signaling and prostate cancer cell growth. 22155569 2012
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 Biomarker disease BEFREE Histone H2B ubiquitin ligases RNF20 and RNF40 in androgen signaling and prostate cancer cell growth. 22155569 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 Biomarker disease BEFREE Induction of Rb-associated protein (RbAp46) by Wilms' tumor suppressor WT1 mediates growth inhibition. 9765217 1998
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
0.010 Biomarker disease BEFREE Induction of Rb-associated protein (RbAp46) by Wilms' tumor suppressor WT1 mediates growth inhibition. 9765217 1998