|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for ANKRA2 |
 Gene summary |
| Basic gene Info. | Gene symbol | ANKRA2 |
| Gene name | ankyrin repeat, family A (RFXANK-like), 2 | |
| Synonyms | ANKRA | |
| Cytomap | UCSC genome browser: 5q12-q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_023039.4, | |
| Description | RFXANK-like protein 2ankyrin repeat family A protein 2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605787 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164331 | ||
| HPRD : 12044 | ||
| Vega : OTTHUMG00000102030 | ||
| Protein | UniProt: Q9H9E1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ANKRA2 | |
| BioGPS: 57763 | ||
| Pathway | NCI Pathway Interaction Database: ANKRA2 | |
| KEGG: ANKRA2 | ||
| REACTOME: ANKRA2 | ||
| Pathway Commons: ANKRA2 | ||
| Context | iHOP: ANKRA2 | |
| ligand binding site mutation search in PubMed: ANKRA2 | ||
| UCL Cancer Institute: ANKRA2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
| Top |
| Ligand binding site mutations for ANKRA2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E181 | E181K | 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. |
| Top |
| Protein structure related information for ANKRA2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
 |
| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | E181 | E181K | -1.4828158 |
| (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) |
| Structure image for ANKRA2 from PDB |
| Top |
| Differential gene expression and gene-gene network for ANKRA2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
| Top |
| Top |
| Phenotype information for ANKRA2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for ANKRA2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of ANKRA2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LEU,LEU,PRO,THR,LEU,PRO,LYS,LEU,PRO,SER,LEU) | 3v2x | A | E181 | III | Peptide ligand (ACE,LEU,PRO,LEU,TYR,THR,SER,PRO,SER,LEU,PRO,ASN,ILE,THR,LEU,GLY,LEU,PRO) | 3v31 | A | E181 |
| Top |
| Conservation information for LBS of ANKRA2 |
| Multiple alignments for Q9H9E1 in multiple species |
| LBS | AA sequence | # species | Species | A158 | VHQLAAQGEML | 2 | Homo sapiens, Bos taurus | A158 | AHQLAAQGEML | 1 | Mus musculus | A191 | LMWAAAHGQIA | 3 | Homo sapiens, Mus musculus, Bos taurus | A290 | MDLAVALGYRS | 2 | Homo sapiens, Bos taurus | A290 | MDLAVALGYRG | 1 | Mus musculus | D245 | DVNEYDWNGGT | 3 | Homo sapiens, Mus musculus, Bos taurus | E181 | NHTDEEGFTPL | 3 | Homo sapiens, Mus musculus, Bos taurus | E216 | LGKGRESALSL | 3 | Homo sapiens, Mus musculus, Bos taurus | F183 | TDEEGFTPLMW | 3 | Homo sapiens, Mus musculus, Bos taurus | G248 | EYDWNGGTPLL | 3 | Homo sapiens, Mus musculus, Bos taurus | G249 | YDWNGGTPLLY | 3 | Homo sapiens, Mus musculus, Bos taurus | G258 | LYAVHGNHVKC | 3 | Homo sapiens, Mus musculus, Bos taurus | H192 | MWAAAHGQIAV | 3 | Homo sapiens, Mus musculus, Bos taurus | H257 | LLYAVHGNHVK | 3 | Homo sapiens, Mus musculus, Bos taurus | K225 | SLACSKGYTDI | 3 | Homo sapiens, Mus musculus, Bos taurus | L151 | LLANSLSVHQL | 2 | Homo sapiens, Bos taurus | L151 | LLANSLSAHQL | 1 | Mus musculus | L221 | ESALSLACSKG | 3 | Homo sapiens, Mus musculus, Bos taurus | L253 | GGTPLLYAVHG | 3 | Homo sapiens, Mus musculus, Bos taurus | L287 | YNSMDLAVALG | 3 | Homo sapiens, Mus musculus, Bos taurus | L291 | DLAVALGYRSV | 2 | Homo sapiens, Bos taurus | L291 | DLAVALGYRGV | 1 | Mus musculus | N247 | NEYDWNGGTPL | 3 | Homo sapiens, Mus musculus, Bos taurus | Q155 | SLSVHQLAAQG | 2 | Homo sapiens, Bos taurus | Q155 | SLSAHQLAAQG | 1 | Mus musculus | Q159 | HQLAAQGEMLY | 3 | Homo sapiens, Mus musculus, Bos taurus | S220 | RESALSLACSK | 3 | Homo sapiens, Mus musculus, Bos taurus | S224 | LSLACSKGYTD | 3 | Homo sapiens, Mus musculus, Bos taurus | S280 | TIETDSGYNSM | 3 | Homo sapiens, Mus musculus, Bos taurus | T278 | DPTIETDSGYN | 3 | Homo sapiens, Mus musculus, Bos taurus | W188 | FTPLMWAAAHG | 3 | Homo sapiens, Mus musculus, Bos taurus | Y254 | GTPLLYAVHGN | 3 | Homo sapiens, Mus musculus, Bos taurus | Y282 | ETDSGYNSMDL | 3 | Homo sapiens, Mus musculus, Bos taurus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |