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 ABCB6
Gene summary
Basic gene Info.Gene symbolABCB6
Gene nameATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
CytomapUCSC genome browser: 2q36
Type of geneprotein-coding
DescriptionATP-binding cassette half-transporterATP-binding cassette sub-family B member 6, mitochondrialP-glycoprotein-related proteinmitochondrial ABC transporter 3mt-ABC transporter 3ubiquitously-expressed mammalian ABC half transporter
Modification date20141207
dbXrefs MIM : 605452
Ensembl : ENSG00000115657
HPRD : 09261
Vega : OTTHUMG00000133131
ProteinUniProt: Q9NP58
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ABCB6
BioGPS: 10058
PathwayNCI Pathway Interaction Database: ABCB6
Pathway Commons: ABCB6
ContextiHOP: ABCB6
ligand binding site mutation search in PubMed: ABCB6
UCL Cancer Institute: ABCB6
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006779porphyrin-containing compound biosynthetic process17006453
GO:0015886heme transport17661442

Ligand binding site mutations for ABCB6
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
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for ABCB6
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
(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 ABCB6 from PDB

Differential gene expression and gene-gene network for ABCB6
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 ABCB6 and the right PPI network was created from samples without mutations in the LBS of ABCB6. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ABCB6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009404Colorectal Neoplasms1Biomarker
umls:C0032460Polycystic Ovary Syndrome1Biomarker

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

Pharmacological information for ABCB6
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 ABCB6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ATPATP3nh9AR634 Y640

Conservation information for LBS of ABCB6
Multiple alignments for Q9NP58 in multiple species
LBSAA sequence# speciesSpecies
A627VGPSGAGKSTI3Homo sapiens, Mus musculus, Rattus norvegicus
A627VGESGGGKSTI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A627VGPSGSGKSTI1Xenopus tropicalis
G626LVGPSGAGKST3Homo sapiens, Mus musculus, Rattus norvegicus
G626LVGESGGGKST1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G626LVGPSGSGKST1Xenopus tropicalis
G628GPSGAGKSTIL3Homo sapiens, Mus musculus, Rattus norvegicus
G628GESGGGKSTIM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G628GPSGSGKSTII1Xenopus tropicalis
K629PSGAGKSTILR3Homo sapiens, Mus musculus, Rattus norvegicus
K629ESGGGKSTIMR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K629PSGSGKSTIIR1Xenopus tropicalis
R634KSTILRLLFRF3Homo sapiens, Mus musculus, Rattus norvegicus
R634KSTIMRILLRF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R634KSTIIRLLFRF1Xenopus tropicalis
S625ALVGPSGAGKS3Homo sapiens, Mus musculus, Rattus norvegicus
S625ALVGESGGGKS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S625ALVGPSGSGKS1Xenopus tropicalis
S630SGAGKSTILRL3Homo sapiens, Mus musculus, Rattus norvegicus
S630SGGGKSTIMRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S630SGSGKSTIIRL1Xenopus tropicalis
T605ADGRETLQDVS2Homo sapiens, Rattus norvegicus
T605DPRKPVLSDIN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T605LDGKEILRDIS1Xenopus tropicalis
T605ADGQETLQDVS1Mus musculus
T631GAGKSTILRLL3Homo sapiens, Mus musculus, Rattus norvegicus
T631GGGKSTIMRIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T631GSGKSTIIRLL1Xenopus tropicalis
Y599NVHFSYADGRE2Homo sapiens, Rattus norvegicus
Y599HVSFAYDPRKP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y599NVHFSYLDGKE1Xenopus tropicalis
Y599NVHFSYADGQE1Mus musculus
Y640LLFRFYDISSG3Homo sapiens, Mus musculus, Rattus norvegicus
Y640ILLRFFDVNSG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y640LLFRFYDVKGG1Xenopus tropicalis

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