mutLBSgeneDB |
Gene summary for RC3H2 |
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Basic gene Info. | Gene symbol | RC3H2 |
Gene name | ring finger and CCCH-type domains 2 | |
Synonyms | MNAB|RNF164 | |
Cytomap | UCSC genome browser: 9q34 | |
Type of gene | protein-coding | |
RefGenes | NM_001100588.1, NM_018835.2, | |
Description | RING finger protein 164membrane associated DNA binding proteinmembrane-associated nucleic acid binding proteinmembrane-associated nucleic acid-binding proteinring finger and CCCH-type zinc finger domain-containing protein 2ring finger and CCCH-type z | |
Modification date | 20141207 | |
dbXrefs | MIM : 615231 | |
HGNC : HGNC | ||
Ensembl : ENSG00000056586 | ||
HPRD : 14726 | ||
Vega : OTTHUMG00000020632 | ||
Protein | UniProt: Q9HBD1 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RC3H2 | |
BioGPS: 54542 | ||
Pathway | NCI Pathway Interaction Database: RC3H2 | |
KEGG: RC3H2 | ||
REACTOME: RC3H2 | ||
Pathway Commons: RC3H2 | ||
Context | iHOP: RC3H2 | |
ligand binding site mutation search in PubMed: RC3H2 | ||
UCL Cancer Institute: RC3H2 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for RC3H2 |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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LBS | AAchange of nsSNV | Cancer type | # samples | D319 | D319H | BLCA | 1 | S316 | I317V | LUAD | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for RC3H2 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | D319 | D319H | -0.67629762 | S316 | I317V | -0.45829313 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
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Differential gene expression and gene-gene network for RC3H2 |
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Phenotype information for RC3H2 |
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Disease ID | Disease name | # PubMed | Association type |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for RC3H2 |
![]() Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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Drug status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4z31 | A | S316 D319 | NUC | Nucleic Acids | 4z31 | B | S316 D319 |
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Conservation information for LBS of RC3H2 |
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LBS | AA sequence | # species | Species |
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