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

ABCB7 Gene

protein-coding   GIFtS: 69
GCID: GC0XM074189

ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 7


(Previous symbol: ABC7)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 71 2     Atm1p2
ABC71 2 3 5     EST1405352
ABC Transporter 7 Protein2 3     ATP-Binding Cassette Sub-Family B Member 7, Mitochondrial2
ATP-Binding Cassette Transporter 72 3     EC 3.6.38
ASAT2 5     EC 3.6.3.428

External Ids:    HGNC: 481   Entrez Gene: 222   Ensembl: ENSG000001312697   OMIM: 3001355   UniProtKB: O750273   

Export aliases for ABCB7 gene to outside databases

Previous GC identifers: GC0XM070074 GC0XM071447 GC0XM072487 GC0XM073139 GC0XM074056 GC0XM067906


(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 ABCB7 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 gene encodes a half-transporter involved in the transport of heme from the
mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role
in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and
isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple
isoforms have been observed for this gene. (provided by RefSeq, Nov 2012)

GeneCards Summary for ABCB7 Gene: 
ABCB7 (ATP-binding cassette, sub-family B (MDR/TAP), member 7) is a protein-coding gene. Diseases associated with ABCB7 include x-linked sideroblastic anemia, and x-linked sideroblastic anemia with ataxia, and among its related super-pathways are ABC-family proteins mediated transport and SLC-mediated transmembrane transport. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and heme transporter activity. An important paralog of this gene is ABCB6.

UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027
Function: Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in
the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins

Gene Wiki entry for ABCB7 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCB7 gene promoter:
         Nkx3-1   Nkx3-1 v4   FOXD3   Nkx3-1 v1   E47   Nkx3-1 v2   IRF-2   FOXJ2 (long isoform)   Nkx3-1 v3   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCB7 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCB7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCB7


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

Entrez Gene cytogenetic band: Xq13.3   Ensembl cytogenetic band:  Xq13.3   HGNC cytogenetic band: Xq13.3

ABCB7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCB7 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM074189:  view genomic region     (about GC identifiers)

Start:
74,273,105 bp from pter      End:
74,376,567 bp from pter
Size:
103,463 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family B member 7, mitochondrial precursor  
Size: 752 amino acids; 82641 Da
Subunit: Homodimer or heterodimer (Potential)
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (Potential)
Secondary accessions: O75345 Q5VWY7 Q5VWY8 Q9BRE1 Q9UND1 Q9UP01
Alternative splicing: 2 isoforms:  O75027-1   O75027-2   

Explore the universe of human proteins at neXtProt for ABCB7: NX_O75027

Explore proteomics data for ABCB7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75027

  • 4 DME Specific Peptides for ABCB7 (O75027)
     KQRVAIA  QRVAIAR  AIARAILK  LSGGEKQR 

    ABCB7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCB7 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001258625.1  NP_001258626.1  NP_001258627.1  NP_001258628.1  NP_004290.2  

    ENSEMBL proteins: 
     ENSP00000253577   ENSP00000343849   ENSP00000362492   ENSP00000436586   ENSP00000435521  
     ENSP00000432813  
    Reactome Protein details: O75027
    Human Recombinant Protein Products for ABCB7: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCB7 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral to membrane IBA--

    ABCB7 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB7 
    ABCB subfamily

    5/7 InterPro protein domains (see all 7):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1

    Graphical View of Domain Structure for InterPro Entry O75027

    ProtoNet protein and cluster: O75027

    UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027
    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


    ABCB7 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCB7_HUMAN, O75027
    Function: Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in
    the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins

         Genatlas biochemistry entry for ABCB7:
    ATP binding cassette superfamily,subfamily B (MDR/TAP),member 7,mouse ABC7 and yeast Atm1p homolog,ubiquitously
    expressed,located in the mitochondrial inner membrane

         Enzyme Numbers (IUBMB): EC 3.6.32 EC 3.6.3.422

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0015232heme transporter activity TAS9621516
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
         
    ABCB7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCB7:
     Increased cell death HMECs cel 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Abcb7):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     liver/biliary system  mortality/aging  nervous system 

    ABCB7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abcb7tm1.1Mdf for ABCB7

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCB7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABCB7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCB7 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB7


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABCB7 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.70
    ABC transporters0.70
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3Metabolism
    Metabolism0.40
    4Mitochondrial ABC transporters
    Mitochondrial ABC transporters
    5Cytosolic Iron-sulfur Cluster Assembly
    Cytosolic Iron-sulfur Cluster Assembly

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5        Reactome Pathways for ABCB7
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules
    Cytosolic Iron-sulfur Cluster Assembly
    Metabolism
    Mitochondrial ABC transporters


    1         Kegg Pathway  (Kegg details for ABCB7):
        ABC transporters


    ABCB7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCB7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/263 Interacting proteins for ABCB7 (O750272, 3 ENSP000002535774) via UniProtKB, MINT, STRING, and/or I2D (see all 263)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=2 STRING: ENSP00000367207
    PGK1P005583, ENSP000003624134I2D: score=1 STRING: ENSP00000362413
    FECHP228303, ENSP000003723264I2D: score=2 STRING: ENSP00000372326
    GCLCP485063, ENSP000002294164I2D: score=1 STRING: ENSP00000229416
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9621516
    GO:0006879cellular iron ion homeostasis IBA--
    GO:0015886heme transport TAS9621516
    GO:0044281small molecule metabolic process TAS--
    GO:0055085transmembrane transport TAS--

    ABCB7 for ontologies           About GeneDecksing



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

    ABCB7 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCB7

    2 HMDB Compounds for ABCB7    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--

    10/43 Novoseek inferred chemical compound relationships for ABCB7 gene (see all 43)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartate 82.1 106 9455783 (2), 2136937 (1), 1969791 (1), 2396080 (1) (see all 96)
    alanine 67.9 52 1969791 (1), 2396080 (1), 1997637 (1), 7905274 (1) (see all 52)
    creatinine 53.4 35 15844399 (2), 8378031 (2), 1780819 (1), 7976144 (1) (see all 33)
    fluvastatin 49.9 1 7905274 (1)
    urea 42.6 14 1803931 (2), 15844399 (2), 8378031 (2), 16896724 (1) (see all 11)
    lactate 42.5 27 9455783 (3), 1997637 (1), 8985522 (1), 17590199 (1) (see all 21)
    uric acid 42.1 13 8378031 (3), 19444226 (2), 17590199 (1), 17913676 (1) (see all 10)
    iron-sulfur 40.2 6 12480705 (3), 19786205 (1), 19907149 (1)
    cholesterol 39.4 21 8766592 (2), 1771866 (2), 19444226 (2), 8097894 (1) (see all 14)
    nevirapine 36.1 7 12392585 (2), 12220974 (1), 15156302 (1)

    Search CenterWatch for drugs/clinical trials and news about ABCB7

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABCB7 gene (5 alternative transcripts): 
    NM_001271696.1  NM_001271697.1  NM_001271698.1  NM_001271699.1  NM_004299.4  

    Unigene Cluster for ABCB7:

    ATP-binding cassette, sub-family B (MDR/TAP), member 7
    Hs.370480  [show with all ESTs]
    Unigene Representative Sequence: BX648420
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253577(uc004ebz.3 uc004eca.3 uc011mqn.2 uc010nls.3 uc010nlt.3)
    ENST00000339447 ENST00000373394 ENST00000529949 ENST00000490858 ENST00000534570
    ENST00000469368 ENST00000534524 ENST00000526404
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF038950.1 AF078777.1 AF133659.1 AK001418.1 AK294657.1 AK307414.1 BC006323.2 BT009918.1 
    BX537833.1 BX648420.1 U66679.1 

    15 DOTS entries:

    DT.448190  DT.92034779  DT.91740872  DT.121279798  DT.92003533  DT.95200092  DT.100742050  DT.102828440 
    DT.100668417  DT.121279779  DT.121279792  DT.65288079  DT.91740870  DT.91837463  DT.75107232 

    24/141 AceView cDNA sequences (see all 141):

    BF108755 BX537833 CA418036 AI128014 AI338551 AF133659 AW662400 AW271773 
    AA923765 AA305099 AA282065 AA767655 CA448448 AA974072 BM662767 NM_004299 
    CR612563 BF001423 AA363683 BG109895 AK001418 CA314242 BF724380 F34862 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB7    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16a · 16b
    SP1:                                                                    -                                                                     
    SP2:                                                                    -                                                                     
    SP3:                                -                                   -                                                                     
    SP4:                                                                                                                                          
    SP5:                                                                    -                       -     -                                       


    ECgene alternative splicing isoforms for ABCB7

    (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

    ABCB7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAACCCCAA
    ABCB7 Expression
    About this image


    See ABCB7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCB7

    SOURCE GeneReport for Unigene cluster: Hs.370480
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB7

    (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 eukaryotes.

    Orthologs for ABCB7 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcb71 , 5 ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 90.87(n)1
    92.29(a)1
      X (46.58 cM)5
    113061  NM_009592.11  NP_033722.11 
     1042806575 
    chicken
    (Gallus gallus)
    Aves ABCB71 ATP-binding cassette, sub-family B (MDR/TAP), member more 79.41(n)
    83.33(a)
      422326  XM_420301.3  XP_420301.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABCB76
    ATP-binding cassette, sub-family B (MDR/TAP), memb...
    79(a)
    1 ↔ 1
    GL343825.1(8626-73329)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.79562 Xenopus laevis transcribed sequence with moderate similarity more 74.57(n)    BG364421.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcb71 ATP-binding cassette, sub-family B (MDR/TAP), member more 70.93(n)
    79.65(a)
      566515  XM_689787.3  XP_694879.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG79553
    ABCB71
    ATP-binding cassette (ABC) transporter3
    ABCB71
    58(a)3
    57.74(n)1
    59.17(a)1
      62A93
    381931  NM_167902.11  NP_728642.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y74C10AM.13
    abtm-11
    Protein ABTM-11 54(a)3
    55.59(n)1
    53.97(a)1
      I(2478128-2480798)3
    1718071  NM_001026659.11  NP_001021830.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATM1(YMR301C)4 Mitochondrial inner membrane ATP-binding cassette (ABC) more   --   13(869627-867555) 855347  NP_014030.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATM31 ABC transporter B family member 25 58.26(n)
    56.97(a)
      835939  NM_125212.2  NP_200635.1 
    rice
    (Oryza sativa)
    Liliopsida Os.108142 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.57(n)    AK064342.1 


    ENSEMBL Gene Tree for ABCB7 (if available)
    TreeFam Gene Tree for ABCB7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCB7 gene
    ABCB62  
    13 SIMAP similar genes for ABCB7 using alignment to 5 protein entries:     ABCB7_HUMAN (see all proteins):
    DKFZp686K20196    TAP1    ABCB4    NG-TRA    ABC-transporter    ABCB6
    DKFZp434I2115    ABCB1    CFTR    MDR1    ABCG2    TAP2-G
    ABCB11

    ABCB7 for paralogs           About GeneDecksing



    (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) 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

    10/1316 SNPs in ABCB7 are shown (see all 1316)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673544
    Anemia, sideroblastic, spinocerebellar ataxia (ASAT)4--see VAR_0673542 E D mis40--------
    VAR_0091564
    Anemia, sideroblastic, spinocerebellar ataxia (ASAT)4--see VAR_0091562 I M mis40--------
    VAR_0228744
    Anemia, sideroblastic, spinocerebellar ataxia (ASAT)4--see VAR_0228742 V L mis40--------
    VAR_0126404
    Anemia, sideroblastic, spinocerebellar ataxia (ASAT)4--see VAR_0126402 E K mis40--------
    rs803567141,2
    Cpathogenic174298357(-) ATAGAA/GAGACT 10 K E mis10--------
    rs803567131,2
    Cpathogenic174298423(-) ATCTAC/G/TTAATG 15 L V mis10--------
    rs725546341,2
    Cpathogenic174299440(-) GGAATA/G/TGTGGC 10 M I mis10--------
    VAR_0228734
    ----see VAR_0228732 F I mis40--------
    VAR_0228724
    ----see VAR_0228722 R G mis40--------
    rs114123161,2
    C--74272628(+) AAAAA-/ACAAAA 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for ABCB7 (74273105 - 74376567 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ABCB7: --

    Human Gene Mutation Database (HGMD): ABCB7

    Locus Specific Mutation Databases (LSDB): ABCB7
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCB7
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCB7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300135   
    OMIM disorders: 301310  
    UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027
  • Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]: A X-linked recessive disorder
    characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with
    hypochromia and microcytosis. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/77 diseases for ABCB7 (see all 77):    About MalaCards
    x-linked sideroblastic anemia    x-linked sideroblastic anemia with ataxia    alcohol abuse    nephropathia epidemica
    giant hemangioma    congenital syphilis    anemia, sideroblastic, with ataxia    sideroblastic anemia
    x-linked cerebellar ataxia    majeed syndrome    heart aneurysm    refractory anemia
    syphilis    sleeping sickness    acute myocarditis    chikungunya
    portal vein thrombosis    leukopenia    viral hepatitis    pearson syndrome

    4 diseases from the University of Copenhagen DISEASES database for ABCB7:
    Spinocerebellar ataxia     Bone marrow disease     Anemia     Pearson syndrome

    ABCB7 for disorders           About GeneDecksing

    10/48 Novoseek inferred disease relationships for ABCB7 gene (see all 48)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia congenital sideroblastic 87.7 2 19907149 (1), 16870250 (1)
    anemia sideroblastic 83.6 8 20093295 (1), 12938016 (1), 12480705 (1), 15506716 (1) (see all 7)
    liver diseases 57.6 4 8266011 (1), 11594118 (1), 1350376 (1), 7916242 (1)
    alcohol abuse 52.7 2 9547899 (1), 1350376 (1)
    hepatitis chronic active 50.7 2 9144972 (2)
    hepatomegaly 49.4 2 7987443 (1), 9014018 (1)
    viral hepatitis 49.2 1 11811111 (1)
    hepatitis 42.5 6 17059345 (1), 1407210 (1), 1305279 (1), 10052474 (1) (see all 6)
    fatty liver 42 2 11063160 (1)
    alcoholism 39.8 2 7674678 (1), 10798586 (1)

    GeneTests: ABCB7
    GeneReviews: ABCB7
    Genetic Association Database (GAD): ABCB7
    Human Genome Epidemiology (HuGE) Navigator: ABCB7 (2 documents)

    Export disorders for ABCB7 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)
    About This Section

    PubMed articles for ABCB7 gene, integrated from 9 sources (see all 256):
    (articles sorted by number of sources associating them with ABCB7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. (PubMed id 11050011)1, 2, 9 Bekri S....Bishop D.F. (2000)
    2. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. (PubMed id 11843825)1, 2, 9 Maguire A.... May A. (2001)
    3. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (PubMed id 10196363)1, 2, 9 Allikmets R....Koeller D.M. (1999)
    4. Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. (PubMed id 9143506)1, 3, 9 Savary S....Chimini G. (1997)
    5. X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation. (PubMed id 22398176)1, 2 D'Hooghe M.... Bekri S. (2012)
    6. 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. (2009)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. (PubMed id 9883897)1, 2 Csere P.... Kispal G. (1998)
    10. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. (PubMed id 9621516)1, 2 Shimada Y....Takahashi E. (1998)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22 HGNC: 48 AceView: ABCB7 Ensembl:ENSG00000131269 euGenes: HUgn22
    ECgene: ABCB7 Kegg: 22 H-InvDB: ABCB7

    (According to HUGE)
    About This Section
      --

    (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 ABCB7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCB7
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O75027

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCB7 gene:
    Search GeneIP for patents involving ABCB7

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



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