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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCB6 Gene

protein-coding   GIFtS: 63
GCID: GC02M220038

ATP-binding cassette, sub-family B (MDR/TAP), member 6
 Explore 17 diseases affiliated with
ABCB6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCB6    

Aliases
for ABCB6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 61 2     ABC2
MTABC31 2 3 5     ABC142
Umat1     LAN2
Mitochondrial ABC Transporter 32 3     MCOPCB72
Mt-ABC Transporter 32 3     ATP-Binding Cassette Half-Transporter2
Ubiquitously-Expressed Mammalian ABC Half Transporter2 3     ATP-Binding Cassette Sub-Family B Member 6, Mitochondrial2
PRP2 3     UMAT3
P-Glycoprotein-Related Protein2 3     EC 3.6.38
EST455971     

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 GC02M220277 GC02M219899 GC02M219782 GC02M211927


Summaries
for ABCB6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ABCB6:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: ABCB6 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCB6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC02M220038:  view genomic region     (about GC identifiers)

Start:
 220,074,490 bp from pter      End:
 220,083,712 bp from pter
Size:
 9,223 bases      Orientation:
 minus strand

Proteins
for ABCB6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum.
Golgi apparatus
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; Sequence=AAG33618.1; Type=Erroneous initiation;
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NP58

    • 3 DME Specific Peptides for ABCB6 (Q9NP58)
     KQRVAIA  QRVAIAR  LSGGEKQR 

    ABCB6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005680.1  
    ENSEMBL proteins: 
     ENSP00000265316   ENSP00000295750   ENSP00000414646   ENSP00000404006   ENSP00000392988  
     ENSP00000401811   ENSP00000394333  
    Reactome Protein details: Q9NP58
    Human Recombinant Protein Products: 
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    Novus Biologicals ABCB6 Protein
    Novus Biologicals ABCB6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ABCB6

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739NOT mitochondrion IDA18279659
    GO:0005740mitochondrial envelope IDA10837493
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005774vacuolar membrane IBA--
    GO:0005783endoplasmic reticulum IDA--


    ABCB6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ABCB6

    Protein Domains /
    Families
    for ABCB6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCB6 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR003439 ABC_transporter-like
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1
     IPR011527 ABC_transptrTM_dom_typ1

    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


    Function
    for ABCB6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IDA10837493
    GO:0015232heme transporter activity TAS--
    GO:0015439heme-transporting ATPase activity IMP17006453
    GO:0015562efflux transmembrane transporter activity IDA17661442
    GO:0020037heme binding IDA17006453


    ABCB6 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ABCB6:
     Synthetic lethal with imatinib 

    Animal Models:
         Mouse knock-outs for ABCB6: Abcb6tm1Pkr Abcb6tm1Jsch
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Abcb6):
     cellular  hematopoietic system  homeostasis/metabolism  mortality/aging 

    ABCB6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ABCB6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABC transporters0.70
    2Mitochondrial ABC transporters
    		Mitochondrial ABC transporters1.00
    3SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for ABCB6
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules
    Mitochondrial ABC transporters


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


    ABCB6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for ABCB6 (Q9NP583 ENSP000002653164) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    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): 5/9 biological process terms (GO ID links to tree view) (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


    ABCB6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCB6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCB6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about ABCB6 

    Transcripts
    for ABCB6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/190 AceView cDNA sequences (see all 190):

    BM676624 CB156337 BU753914 BU739042 CR609962 AF070598 BX348255 AW205829 
    BG519710 BE262425 W79936 BQ006982 CA429310 CA441997 BM714245 BM725696 
    CF529046 BM701547 AW450832 CA440975 BU678238 AI201831 BM678300 BE312149 

    GeneLoc Exon Structure

    5/10 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

    Expression
    for ABCB6 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCB6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAACGGTGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ABCB6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ABCB6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCB6

    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

        SABiosciences Expression via Pathway-Focused PCR Array including ABCB6: 
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    In Situ
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    Orthologs
    for ABCB6 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ABCB6 gene from 5/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ABCB61 ATP-binding cassette, sub-family B (MDR/TAP), member more 69.16(n)
    66.67(a)    		   425721  XM_423449.3  XP_423449.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ABCB66
    		 --
    		 59(a)
    		 1 ↔ 1
    		 1(95818988-95867341)
    zebrafish
    (Danio rerio)    		 Actinopterygii abcb6a1 ATP-binding cassette, sub-family B (MDR/TAP), member more 65.28(n)
    65.28(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
    56.26(n)1
    51.99(a)1    		   89A63
    419251  NM_142246.21  NP_650503.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea W09D6.63
    hmt-11    		 multidrug resistance protein
    (p-glycoprotein)3
    Protein HMT-11    		 58(a)3
    55.31(n)1
    55.99(a)1    		   III(11163359-11171598)3
    1765401  NM_001027641.21  NP_001022812.11 


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

    Paralogs
    for ABCB6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCB6 gene
    ABCB72  
    13 SIMAP similar genes for ABCB6 using alignment to 6 protein entries:     ABCB6_HUMAN (see all proteins):
    TAP1    ABCB4    NG-TRA    ABC-transporter    ABCB1    ABCB7
    ABCB11    CFTR    DKFZp434I2115    TAP2-G    MDR1    TAP2
    ABCB8

    ABCB6 for paralogs           About GeneDecksing



    Genomic Variants
    for ABCB6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
    Polymorphism: 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


    10/280 NCBI SNPs in ABCB6 are shown (see all 280)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2001530961,2
    		C,unknown224788281(+) CGGCAA/C/TAGCTG 3 Y C F mis10--------
    rs177836261,2
    		C,F,H,--211927739(+) ACTTAT/CGGGTA 1 -- ds500119Minor allele frequency- C:0.02NA NS EA 2212
    rs794411741,2
    		C,--211928144(+) AGGACG/AGGATG 1 -- int12Minor allele frequency- A:0.14CSA WA 120
    rs67277701,2
    		C,H--211928739(+) TCCAGC/GAGAAT 2 L syn1 ese34Minor allele frequency- G:0.00NS EA 420
    rs1115878521,2
    		--211929217(+) ATAAGG/AGGCTG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs344082551,2
    		C--211929641(+) TTTTT-/TGTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs795127941,2
    		C,--211931055(+) TCACAG/TTGAAA 2 N T mis10--------
    rs92885421,2
    		C,H--211931360(+) CACCAC/TCCATG 1 -- int15Minor allele frequency- T:0.00NS EA NA 420
    rs617336281,2
    		C,F--211932501(+) TCAGTG/AACCAC 2 /V syn12Minor allele frequency- A:0.00NS NA 4626
    rs730770201,2
    		C,--211932654(+) GGCACC/TTCTGC 1 -- int12Minor allele frequency- T:0.04WA 120

    HapMap Linkage Disequilibrium report for ABCB6 (220074490 - 220083712 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ABCB6: --
    Human Gene Mutation Database (HGMD): ABCB6

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ABCB6 gene

    (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.)
    About This Section
    ABCB6 for disorders           About GeneDecksing

    OMIM gene information: 605452    OMIM disorders: --

    UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
  • Defects in ABCB6 are the cause of microphthalmia, isolated, with coloboma, type 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, cataract and other
    abnormalities like cataract 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)

    17 diseases for ABCB6:    About MalaCards
    iron overload    trichotillomania    exhibitionism    adrenoleukodystrophy
    cystic fibrosis    aminoaciduria    fibrosis    cholestasis
    breast cancer    glioblastoma    pneumonia    tuberculosis
    hepatitis    malaria    coloboma    mycobacterium tuberculosis
    retinitis

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

    4 Novoseek 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

    Publications
    for ABCB6 gene

    (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)
    About This Section

    PubMed articles for ABCB6 gene, integrated from 9 sources (see all 62):
    (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 Visapaa I....Peltonen L. (2002)
    2. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. (PubMed id 10837493)1, 2, 9 Mitsuhashi N.... Seino S. (2000)
    3. Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus. (PubMed id 18279659)1, 2, 9 Tsuchida M....Sakaguchi M. (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. (2002)
    5. ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis. (PubMed id 22246506)1, 2 Helias V.... Arnaud L. (2012)
    6. ABCB6 mutations cause ocular coloboma. (PubMed id 22226084)1, 2 Wang L.... Yang Z. (2012)
    7. Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane. (PubMed id 17661442)1, 2 Paterson J.K....Gottesman M.M. (2007)
    8. Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6. (PubMed id 16791740)1, 2 Kurashima-Ito K.... Ito Y. (2006)
    9. Identification of a mammalian mitochondrial porphyrin transporter. (PubMed id 17006453)1, 2 Krishnamurthy P.C.... Schuetz J.D. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    External Searches for ABCB6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABCB6 gene

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

    Other Databases showing ABCB6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCB6 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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

    Intellectual Property
    for ABCB6 gene

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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