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mutLBSgeneDB |
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| Gene summary for ABCB6 |
 Gene summary |
| Basic gene Info. | Gene symbol | ABCB6 |
| Gene name | ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) | |
| Synonyms | ABC|ABC14|DUH3|LAN|MCOPCB7|MTABC3|PRP|umat | |
| Cytomap | UCSC genome browser: 2q36 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005689.2, | |
| Description | ATP-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 date | 20141207 | |
| dbXrefs | MIM : 605452 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000115657 | ||
| HPRD : 09261 | ||
| Vega : OTTHUMG00000133131 | ||
| Protein | UniProt: Q9NP58 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ABCB6 | |
| BioGPS: 10058 | ||
| Pathway | NCI Pathway Interaction Database: ABCB6 | |
| KEGG: ABCB6 | ||
| REACTOME: ABCB6 | ||
| Pathway Commons: ABCB6 | ||
| Context | iHOP: ABCB6 | |
| ligand binding site mutation search in PubMed: ABCB6 | ||
| UCL Cancer Institute: ABCB6 | ||
| 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:0006779 | porphyrin-containing compound biosynthetic process | 17006453 | GO:0006810 | transport | 10837493 | GO:0015886 | heme transport | 17661442 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y640 | R638C | COAD | 1 | R634 | L636V | LUAD | 1 | R634 | R634C | UCEC | 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 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 |
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| 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 | Y640 | R638C | -1.3799501 | R634 | L636V | -0.99134733 | R634 | R634C | -0.71782722 |
| (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 |
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| 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) |
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| Phenotype information for ABCB6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0009404 | Colorectal Neoplasms | 1 | Biomarker |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ABCB6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ATP | ATP | 3nh9 | A | R634 Y640 |
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| Conservation information for LBS of ABCB6 |
| Multiple alignments for Q9NP58 in multiple species |
| LBS | AA sequence | # species | Species | A627 | VGPSGAGKSTI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A627 | VGESGGGKSTI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A627 | VGPSGSGKSTI | 1 | Xenopus tropicalis | G626 | LVGPSGAGKST | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G626 | LVGESGGGKST | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G626 | LVGPSGSGKST | 1 | Xenopus tropicalis | G628 | GPSGAGKSTIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G628 | GESGGGKSTIM | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G628 | GPSGSGKSTII | 1 | Xenopus tropicalis | K629 | PSGAGKSTILR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K629 | ESGGGKSTIMR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K629 | PSGSGKSTIIR | 1 | Xenopus tropicalis | R634 | KSTILRLLFRF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R634 | KSTIMRILLRF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R634 | KSTIIRLLFRF | 1 | Xenopus tropicalis | S625 | ALVGPSGAGKS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S625 | ALVGESGGGKS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S625 | ALVGPSGSGKS | 1 | Xenopus tropicalis | S630 | SGAGKSTILRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S630 | SGGGKSTIMRI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S630 | SGSGKSTIIRL | 1 | Xenopus tropicalis | T605 | ADGRETLQDVS | 2 | Homo sapiens, Rattus norvegicus | T605 | DPRKPVLSDIN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T605 | LDGKEILRDIS | 1 | Xenopus tropicalis | T605 | ADGQETLQDVS | 1 | Mus musculus | T631 | GAGKSTILRLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T631 | GGGKSTIMRIL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T631 | GSGKSTIIRLL | 1 | Xenopus tropicalis | Y599 | NVHFSYADGRE | 2 | Homo sapiens, Rattus norvegicus | Y599 | HVSFAYDPRKP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y599 | NVHFSYLDGKE | 1 | Xenopus tropicalis | Y599 | NVHFSYADGQE | 1 | Mus musculus | Y640 | LLFRFYDISSG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y640 | ILLRFFDVNSG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y640 | LLFRFYDVKGG | 1 | Xenopus tropicalis |
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