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ABCB6 Gene

protein-coding   GIFtS: 69
GCID: GC02M220075

ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6

  See ABCB6-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 61 2     LAN2 5
MTABC32 3 5     MCOPCB72 5
ATP-Binding Cassette Half-Transporter1 2     ABC2
Mitochondrial ABC Transporter 32 3     ABC142
Mt-ABC Transporter 32 3     ATP-Binding Cassette Sub-Family B Member 6, Mitochondrial2
Ubiquitously-Expressed Mammalian ABC Half Transporter2 3     umat2
PRP2 3     UMAT3
P-Glycoprotein-Related Protein2 3     EC 3.6.38
DUH32 5     

External Ids:    HGNC: 471   Entrez Gene: 100582   Ensembl: ENSG000001156577   OMIM: 6054525   UniProtKB: Q9NP583   

Export aliases for ABCB6 gene to outside databases

Previous GC identifers: GC02M218090 GC02M218795 GC02M220038 GC02M220277 GC02M219899 GC02M219782 GC02M211927


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCB6 Gene:
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC)
transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are
divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member
of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as
antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26,
this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial
function. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCB6 Gene:
ABCB6 (ATP-binding cassette, sub-family B (MDR/TAP), member 6) is a protein-coding gene. Diseases associated with ABCB6 include microphthalmia, isolated, with coloboma 7, and familial pseudohyperkalemia. GO annotations related to this gene include efflux transmembrane transporter activity and heme binding. An important paralog of this gene is ABCB7.

UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
Function: Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a
crucial role in heme synthesis

Gene Wiki entry for ABCB6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCB6 gene promoter:
         AP-1   ATF-2   MyoD   c-Jun   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCB6 promoter sequence
   Search Chromatin IP Primers for ABCB6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCB6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q36   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q36

ABCB6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCB6 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M220075:  view genomic region     (about GC identifiers)

Start:
220,074,488 bp from pter      End:
220,083,712 bp from pter
Size:
9,225 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family B member 6, mitochondrial  
Size: 842 amino acids; 93886 Da
Subunit: Homodimer
Developmental stage: Highly expressed in fetal liver
Miscellaneous: Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin
biosynthesis
Sequence caution: Sequence=AAG33617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAG33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH43423.1;
Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAD18782.1; Type=Erroneous termination;
Positions=168; Note=Translated as Trp; Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
4 PDB 3D structures from and Proteopedia for ABCB6:
3NH6 (3D)        3NH9 (3D)        3NHA (3D)        3NHB (3D)    
Secondary accessions: O75542 Q49A66 Q59GQ5 Q6ZME6 Q96ME8 Q9HAQ6 Q9HAQ7
Alternative splicing: 2 isoforms:  Q9NP58-1   Q9NP58-4   (Ref.4 (BAB71347) sequence differs from that shown due to splicing through aberrant splice sites)

Explore the universe of human proteins at neXtProt for ABCB6: NX_Q9NP58

Explore proteomics data for ABCB6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys482
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ABCB6 (Q9NP58)
     KQRVAIA  QRVAIAR  LSGGEKQR 


    See ABCB6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005680.1  
    ENSEMBL proteins: 
     ENSP00000265316   ENSP00000295750   ENSP00000414646   ENSP00000404006   ENSP00000392988  
     ENSP00000401811   ENSP00000394333  
    Reactome Protein details: Q9NP58

    ABCB6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ABCB6

     
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    antibodies-online proteins for ABCB6 (2 products) 

     
    antibodies-online peptides for ABCB6

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCB: ATP binding cassette transporters / subfamily B

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB6
    ABCB subfamily

    Selected InterPro protein domains (see all 6):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR011527 ABC1_TM_dom

    Graphical View of Domain Structure for InterPro Entry Q9NP58

    ProtoNet protein and cluster: Q9NP58

    UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
    Similarity: Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    Find genes that share domains with ABCB6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCB6_HUMAN, Q9NP58
    Function: Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a
    crucial role in heme synthesis
    Induction: Up-regulated by cellular porphyrins (at protein level)

         Genatlas biochemistry entry for ABCB6:
    ATP binding cassette superfamily,subfamily B (MDR/TAP),member 6

         Enzyme Number (IUBMB): EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IDA10837493
    GO:0015232heme transporter activity TAS--
    GO:0015439heme-transporting ATPase activity IMP17006453
    GO:0015562efflux transmembrane transporter activity IDA17661442
         
    Find genes that share ontologies with ABCB6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCB6:
     Synthetic lethal with imatinib 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Abcb6):
     cellular  hematopoietic system  homeostasis/metabolism  mortality/aging 

    Find genes that share phenotypes with ABCB6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ABCB6: Abcb6tm1Pkr Abcb6tm1Jsch

       genOway: Develop your customized and physiologically relevant rodent model for ABCB6

    miRNA
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    miRTarBase miRNAs that target ABCB6:
    hsa-mir-1 (MIRT023567), hsa-mir-26b-5p (MIRT029048)

    Block miRNA regulation of human, mouse, rat ABCB6 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ABCB6:
    hsa-miR-29c hsa-miR-29a hsa-miR-621 hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidABCB6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ABCB6

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCB6_HUMAN, Q9NP58: Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic
    reticulum. Golgi apparatus. Endosome (By similarity). Note=localized to the endosome-like compartement and
    dendrite tips
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    mitochondrion5
    plasma membrane5
    vacuole3
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739NOT mitochondrion IDA18279659
    GO:0005740mitochondrial envelope IDA10837493
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005768endosome ISS--
    GO:0005774vacuolar membrane IBA--

    Find genes that share ontologies with ABCB6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCB6 About    
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    Mitochondrial ABC transporters0.00
    ABC transporters0.69
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with ABCB6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ABCB6
        Mitochondrial ABC transporters


    1 Kegg Pathway  (Kegg details for ABCB6):
        ABC transporters

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCB6: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABCB6 (Q9NP583 ENSP000002653164) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R3Q925693, ENSP000002627414I2D: score=2 STRING: ENSP00000262741
    TSG101Q998163, ENSP000002519684I2D: score=1 STRING: ENSP00000251968
    TOLLIPQ9H0E23, ENSP000003147334I2D: score=1 STRING: ENSP00000314733
    ABCA2ENSP000003441554STRING: ENSP00000344155
    ABCD4ENSP000003493964STRING: ENSP00000349396
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006779porphyrin-containing compound biosynthetic process IDA17006453
    GO:0006810transport IDA10837493
    GO:0006879cellular iron ion homeostasis NAS11977179
    GO:0007420brain development IMP--
    GO:0015886heme transport IMP17006453

    Find genes that share ontologies with ABCB6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCB6

    1 HMDB Compound for ABCB6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    8 Novoseek inferred chemical compound relationships for ABCB6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitoxantrone 73.4 5 14618629 (1), 15001581 (1), 16618113 (1), 10606239 (1) (see all 5)
    flavopiridol 64.3 2 11205902 (1), 16618113 (1)
    irinotecan 61.1 2 14618629 (1), 16618113 (1)
    topotecan 58.4 1 14618629 (1)
    camptothecin 52.7 2 14618629 (1), 15075385 (1)
    atp 16.6 3 11955620 (2), 16618113 (1)
    iron 9.9 6 10837493 (3), 11977179 (2)
    lipid 0 2 13678819 (1), 16162093 (1)



    Find genes that share compounds with ABCB6           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ABCB6 gene: 
    NM_005689.2  

    Unigene Cluster for ABCB6:

    ATP-binding cassette, sub-family B (MDR/TAP), member 6
    Hs.107911  [show with all ESTs]
    Unigene Representative Sequence: NM_005689
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265316 ENST00000487380 ENST00000485773 ENST00000497882 ENST00000295750
    ENST00000443805 ENST00000492543 ENST00000448398 ENST00000494639 ENST00000496984
    ENST00000492953 ENST00000417678 ENST00000452545 ENST00000439002
    miRNA
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    hsa-miR-29c hsa-miR-29a hsa-miR-621 hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidABCB6 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ABCB6

    Additional mRNA sequence: 

    AF070598.1 AF076775.1 AF308472.1 AJ289233.2 AK026067.1 AK057026.1 AK172812.1 BC000559.2 
    HQ013240.1 U66673.1 

    17 DOTS entries:

    DT.87046556  DT.100702442  DT.100836568  DT.121017494  DT.100776774  DT.101985085  DT.211669  DT.100650765 
    DT.95178118  DT.100644208  DT.100776777  DT.92438261  DT.100776776  DT.100776779  DT.121017511  DT.95178121 
    DT.91673332 

    Selected AceView cDNA sequences (see all 190):

    BE743584 CF529046 BU628545 BE262425 BQ006982 BM725696 CB156337 BM701547 
    BM970614 BU753914 AI201831 AF076775 BC043423 CA440975 CA429310 BU678238 
    BM678300 AF070598 AW450832 CA441997 BE312149 BM792470 CR609962 BU739042 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABCB6 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
    SP1:                                            -           -     -                 -                                                     -                     
    SP2:                    -                       -           -     -                 -                                                     -                     
    SP3:                                                                                                                                      -                     
    SP4:                                                                                                                                                            
    SP5:                          -     -           -           -     -                                                                                             

    ExUns: 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
    SP1:              -                                 
    SP2:              -                                 
    SP3:              -                                 
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for ABCB6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ABCB6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACGGTGAC
    ABCB6 Expression
    About this image


    ABCB6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Ovary (Reproductive System)
    ABCB6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCB6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.107911

    UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
    Tissue specificity: Widely expressed. High expression is detected in the retinal epithelium

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCB6: 
              Drug Transporters in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ABCB6 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcb61 , 5 ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 86.95(n)1
    89.38(a)1
      1 (38.62 cM)5
    741041  NM_023732.21  NP_076221.11 
     751717175 
    chicken
    (Gallus gallus)
    Aves ABCB61 ATP-binding cassette, sub-family B (MDR/TAP), member more 69.36(n)
    66.55(a)
      425721  XM_423449.4  XP_423449.4 
    lizard
    (Anolis carolinensis)
    Reptilia ABCB66
    ATP-binding cassette, sub-family B (MDR/TAP), memb...
    59(a)
    1 ↔ 1
    1(95818988-95867341)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia abcb61 ATP-binding cassette, sub-family B (MDR/TAP), member more 63.64(n)
    64.57(a)
      780100  NM_001079175.1  NP_001072643.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcb6a1 ATP-binding cassette, sub-family B (MDR/TAP), member more 65.32(n)
    65.45(a)
      564067  NM_001145693.1  NP_001139165.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42253
    Hmt-11
    ATP-binding cassette (ABC) transporter3
    Heavy metal tolerance factor 11
    57(a)3
    56.18(n)1
    52.49(a)1
      89A63
    419251  NM_142246.21  NP_650503.11 
    worm
    (Caenorhabditis elegans)
    Secernentea W09D6.63
    hmt-11
    multidrug resistance protein
    (p-glycoprotein)3
    hmt-11
    58(a)3
    55.31(n)1
    55.99(a)1
      III(11163359-11171598)3
    1765401  NM_001027641.31  NP_001022812.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATM16
    Mitochondrial inner membrane ATP-binding cassette ...
    36(a)
    1 → many
    XIII(867555-869627) YMR301C


    ENSEMBL Gene Tree for ABCB6 (if available)
    TreeFam Gene Tree for ABCB6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCB6 gene
    ABCB72  
    13 SIMAP similar genes for ABCB6 using alignment to 12 protein entries:     ABCB6_HUMAN (see all proteins):
    TAP1    ABCB4    NG-TRA    ABC-transporter    ABCB1    ABCB7
    ABCB11    CFTR    DKFZp434I2115    TAP2-G    MDR1    TAP2
    ABCB8

    Find genes that share paralogs with ABCB6           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ABCB6_HUMAN, Q9NP58: Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals
    with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan
    antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn.
    The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise
    Lan(-) individuals have no clinical features


    Selected SNPs for ABCB6 (see all 419)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673954
    Microphthalmia, isolated, with coloboma, 7 (MCOPCB7)4--see VAR_0673952 L V mis40--------
    VAR_0706024
    Dyschromatosis universalis hereditaria 3 (DUH3)4--see VAR_0706022 S G mis40--------
    VAR_0706034
    Dyschromatosis universalis hereditaria 3 (DUH3)4--see VAR_0706032 L P mis40--------
    VAR_0706044
    Dyschromatosis universalis hereditaria 3 (DUH3)4--see VAR_0706042 G E mis40--------
    VAR_0357324
    A breast cancer sample4--see VAR_0357322 R G mis40--------
    VAR_0673944
    Microphthalmia, isolated, with coloboma, 7 (MCOPCB7)4--see VAR_0673942 A T mis40--------
    rs2001530961,2
    Cuntested1219458340(+) CGGCAA/C/TAGCTG 2 Y F mis10--------
    rs1399749231,2
    C,F--219454361(+) CCAGAG/ACCGCA 1 -- ds50011Minor allele frequency- A:0.00NA 4510
    rs1452403911,2
    C,F--219454363(+) AGAGCC/TGCAGC 1 -- ds50011Minor allele frequency- T:0.00NA 4526
    rs1405931961,2
    C--219454364(+) GAGCCG/ACAGCT 1 -- ds50011Minor allele frequency- A:0.00NA 4526

    HapMap Linkage Disequilibrium report for ABCB6 (220074488 - 220083712 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ABCB6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv875869CNV Loss21882294
    nsv875870CNV Gain+Loss21882294

    Human Gene Mutation Database (HGMD): ABCB6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCB6
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCB6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605452   
    OMIM disorders: 614497  111600  615402  
    UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
  • Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging
    from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like
    opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
    Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and
    the fusion of the fetal fissure (optic fissure). Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]: An autosomal dominant pigmentary
    genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over
    the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal
    pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is
    unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be
    associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for ABCB6:    
    About MalaCards
    microphthalmia, isolated, with coloboma 7    familial pseudohyperkalemia    dyschromatosis universalis hereditaria 3    exhibitionism
    dyschromatosis universalis hereditaria    kleptomania    stereotypic movement disorder    coloboma
    matthew-wood syndrome    adrenoleukodystrophy

    3 diseases from the University of Copenhagen DISEASES database for ABCB6:
    Stereotypic movement disorder     Kleptomania     Exhibitionism

    Find genes that share disorders with ABCB6           About GenesLikeMe

    4 Novoseek inferred disease relationships for ABCB6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenoleukodystrophy 71.8 3 8876235 (1), 9587057 (1)
    cystic fibrosis 25.8 1 12369999 (1)
    breast cancer 21.6 3 14618629 (1), 11205902 (1), 12369999 (1)
    cancer 14.1 3 16842198 (1), 19406100 (1), 16024622 (1)

    Genetic Association Database (GAD): ABCB6
    Human Genome Epidemiology (HuGE) Navigator: ABCB6 (3 documents)

    Export disorders for ABCB6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCB6 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with ABCB6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. (PubMed id 11977179)1, 4, 9 VisapAoAo I....Peltonen L. (Am. J. Med. Genet. 2002)
    2. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. (PubMed id 10837493)1, 2, 9 Mitsuhashi N.... Seino S. (J. Biol. Chem. 2000)
    3. Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus. (PubMed id 18279659)1, 2, 9 Tsuchida M.... Sakaguchi M. (Biochem. Biophys. Res. Commun. 2008)
    4. Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6. (PubMed id 11955620)1, 2, 9 Emadi-Konjin H.-P....Furuya K.N. (Biochim. Biophys. Acta 2002)
    5. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. (PubMed id 23519333)1, 2 Zhang C....Deng Y. (J. Invest. Dermatol. 2013)
    6. ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis. (PubMed id 22246506)1, 2 Helias V.... Arnaud L. (Nat. Genet. 2012)
    7. ABCB6 mutations cause ocular coloboma. (PubMed id 22226084)1, 2 Wang L.... Yang Z. (Am. J. Hum. Genet. 2012)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    10. Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane. (PubMed id 17661442)1, 2 Paterson J.K.... Gottesman M.M. (Biochemistry 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10058 HGNC: 47 AceView: ABCB6 Ensembl:ENSG00000115657 euGenes: HUgn10058
    ECgene: ABCB6 Kegg: 10058 H-InvDB: ABCB6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCB6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABCB6 Genetics and Cytogenetics in Oncology and Haematology
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NP58

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCB6 gene:
    Search GeneIP for patents involving ABCB6

    GeneCards and IP:
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