mutLBSgeneDB |
Gene summary for ACTN2 |
Gene summary |
Basic gene Info. | Gene symbol | ACTN2 |
Gene name | actinin, alpha 2 | |
Synonyms | CMD1AA | |
Cytomap | UCSC genome browser: 1q42-q43 | |
Type of gene | protein-coding | |
RefGenes | NM_001103.3, NM_001278343.1,NM_001278344.1, | |
Description | F-actin cross-linking proteinalpha-actinin skeletal musclealpha-actinin-2 | |
Modification date | 20141219 | |
dbXrefs | MIM : 102573 | |
HGNC : HGNC | ||
Ensembl : ENSG00000077522 | ||
HPRD : 00019 | ||
Vega : OTTHUMG00000040059 | ||
Protein | UniProt: P35609 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ACTN2 | |
BioGPS: 88 | ||
Pathway | NCI Pathway Interaction Database: ACTN2 | |
KEGG: ACTN2 | ||
REACTOME: ACTN2 | ||
Pathway Commons: ACTN2 | ||
Context | iHOP: ACTN2 | |
ligand binding site mutation search in PubMed: ACTN2 | ||
UCL Cancer Institute: ACTN2 | ||
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 | GO:0030035 | microspike assembly | 12356918 | GO:0043268 | positive regulation of potassium ion transport | 17110593 | GO:0051289 | protein homotetramerization | 9501083 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 17110593 |
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Ligand binding site mutations for ACTN2 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | L888 | A887E | BRCA | 1 | E853 | R852Q | BRCA | 1 | E853 | R851H | COAD | 1 | E448 | S449R | LUAD | 1 | S834 | A833S | LUAD | 1 | F835 | F835S | LUAD | 1 | E853 | R852W | LUAD | 1 | L888 | G890V | LUSC | 1 | L888 | G890W | STAD | 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 ACTN2 |
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 | E448 | S449R | 0.037941309 | S834 | A833S | -1.1645571 | E853 | R851H | -0.86620142 | E853 | R852Q | -0.36134982 | L888 | A887E | -0.34663465 | F835 | F835S | -0.32846037 | E853 | R852W | -0.084319331 | L888 | G890W | -0.054047515 | L888 | G890V | -0.047601584 |
(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 ACTN2 from PDB |
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Differential gene expression and gene-gene network for ACTN2 |
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) |
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Phenotype information for ACTN2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0878544 | Cardiomyopathies | 1 | GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
172538 | R852Q | Uncertain significance | Germline | MedGen:CN169374 |
189402 | R851H | Uncertain significance | Unknown | MedGen:CN221809 |
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Pharmacological information for ACTN2 |
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 ACTN2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of ACTN2 |
Multiple alignments for P35609 in multiple species |
LBS | AA sequence | # species | Species | C862 | DQAQYCIKRMP | 3 | Homo sapiens, Bos taurus, Mus musculus | C862 | EQAQYCIKRMP | 1 | Gallus gallus | D857 | RELPPDQAQYC | 3 | Homo sapiens, Bos taurus, Mus musculus | D857 | RELPPEQAQYC | 1 | Gallus gallus | E448 | KHEAFESDLAA | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | E853 | EELRRELPPDQ | 3 | Homo sapiens, Bos taurus, Mus musculus | E853 | DELRRELPPEQ | 1 | Gallus gallus | F835 | QVIASFRILAS | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | I837 | IASFRILASDK | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | L838 | ASFRILASDKP | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | L854 | ELRRELPPDQA | 3 | Homo sapiens, Bos taurus, Mus musculus | L854 | ELRRELPPEQA | 1 | Gallus gallus | L888 | AFSSALYGESD | 3 | Homo sapiens, Bos taurus, Mus musculus | L888 | SFSSALYGESD | 1 | Gallus gallus | P855 | LRRELPPDQAQ | 3 | Homo sapiens, Bos taurus, Mus musculus | P855 | LRRELPPEQAQ | 1 | Gallus gallus | Q830 | TDTAEQVIASF | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | Q858 | ELPPDQAQYCI | 3 | Homo sapiens, Bos taurus, Mus musculus | Q858 | ELPPEQAQYCI | 1 | Gallus gallus | R865 | QYCIKRMPAYS | 2 | Homo sapiens, Bos taurus | R865 | QYCIKRMPQYT | 1 | Gallus gallus | R865 | QYCIKRMPPYS | 1 | Mus musculus | S834 | EQVIASFRILA | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | Y861 | PDQAQYCIKRM | 3 | Homo sapiens, Bos taurus, Mus musculus | Y861 | PEQAQYCIKRM | 1 | Gallus gallus |
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