mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ANKRA2
Gene summary
Basic gene Info.Gene symbolANKRA2
Gene nameankyrin repeat, family A (RFXANK-like), 2
SynonymsANKRA
CytomapUCSC genome browser: 5q12-q13
Type of geneprotein-coding
RefGenesNM_023039.4,
DescriptionRFXANK-like protein 2ankyrin repeat family A protein 2
Modification date20141207
dbXrefs MIM : 605787
HGNC : HGNC
Ensembl : ENSG00000164331
HPRD : 12044
Vega : OTTHUMG00000102030
ProteinUniProt: Q9H9E1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ANKRA2
BioGPS: 57763
PathwayNCI Pathway Interaction Database: ANKRA2
KEGG: ANKRA2
REACTOME: ANKRA2
Pathway Commons: ANKRA2
ContextiHOP: ANKRA2
ligand binding site mutation search in PubMed: ANKRA2
UCL Cancer Institute: ANKRA2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for ANKRA2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E181E181KLUAD1
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 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.
LBSAAchange of nsSNVRelative stability change
E181E181K-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

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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)
* Left PPI network was created from samples with mutations in the LBS of ANKRA2 and the right PPI network was created from samples without mutations in the LBS of ANKRA2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for ANKRA2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ANKRA2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (LEU,LEU,PRO,THR,LEU,PRO,LYS,LEU,PRO,SER,LEU)3v2xAE181
IIIPeptide ligand (ACE,LEU,PRO,LEU,TYR,THR,SER,PRO,SER,LEU,PRO,ASN,ILE,THR,LEU,GLY,LEU,PRO)3v31AE181


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Conservation information for LBS of ANKRA2
Multiple alignments for Q9H9E1 in multiple species
LBSAA sequence# speciesSpecies
A158VHQLAAQGEML2Homo sapiens, Bos taurus
A158AHQLAAQGEML1Mus musculus
A191LMWAAAHGQIA3Homo sapiens, Mus musculus, Bos taurus
A290MDLAVALGYRS2Homo sapiens, Bos taurus
A290MDLAVALGYRG1Mus musculus
D245DVNEYDWNGGT3Homo sapiens, Mus musculus, Bos taurus
E181NHTDEEGFTPL3Homo sapiens, Mus musculus, Bos taurus
E216LGKGRESALSL3Homo sapiens, Mus musculus, Bos taurus
F183TDEEGFTPLMW3Homo sapiens, Mus musculus, Bos taurus
G248EYDWNGGTPLL3Homo sapiens, Mus musculus, Bos taurus
G249YDWNGGTPLLY3Homo sapiens, Mus musculus, Bos taurus
G258LYAVHGNHVKC3Homo sapiens, Mus musculus, Bos taurus
H192MWAAAHGQIAV3Homo sapiens, Mus musculus, Bos taurus
H257LLYAVHGNHVK3Homo sapiens, Mus musculus, Bos taurus
K225SLACSKGYTDI3Homo sapiens, Mus musculus, Bos taurus
L151LLANSLSVHQL2Homo sapiens, Bos taurus
L151LLANSLSAHQL1Mus musculus
L221ESALSLACSKG3Homo sapiens, Mus musculus, Bos taurus
L253GGTPLLYAVHG3Homo sapiens, Mus musculus, Bos taurus
L287YNSMDLAVALG3Homo sapiens, Mus musculus, Bos taurus
L291DLAVALGYRSV2Homo sapiens, Bos taurus
L291DLAVALGYRGV1Mus musculus
N247NEYDWNGGTPL3Homo sapiens, Mus musculus, Bos taurus
Q155SLSVHQLAAQG2Homo sapiens, Bos taurus
Q155SLSAHQLAAQG1Mus musculus
Q159HQLAAQGEMLY3Homo sapiens, Mus musculus, Bos taurus
S220RESALSLACSK3Homo sapiens, Mus musculus, Bos taurus
S224LSLACSKGYTD3Homo sapiens, Mus musculus, Bos taurus
S280TIETDSGYNSM3Homo sapiens, Mus musculus, Bos taurus
T278DPTIETDSGYN3Homo sapiens, Mus musculus, Bos taurus
W188FTPLMWAAAHG3Homo sapiens, Mus musculus, Bos taurus
Y254GTPLLYAVHGN3Homo sapiens, Mus musculus, Bos taurus
Y282ETDSGYNSMDL3Homo sapiens, Mus musculus, Bos taurus


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