ABCB7 Gene
protein-coding GIFtS: 66
GCID: GC0XM074189
|
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
(Previous symbol: ABC7)
| |
Aliases
for ABCB7 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 71 2 | | ABC Transporter 7 Protein2 3 | | ABC71 2 3 5 | | ATP-Binding Cassette Transporter 72 3 | | ASAT1 2 5 | | ATP-Binding Cassette Sub-Family B Member 7, Mitochondrial2 | | Atm1p1 2 | | EC 3.6.38 | | EST1405351 2 | | EC 3.6.3.428 |
Export aliases for ABCB7 gene to outside databasesPrevious GC identifers: GC0XM070074 GC0XM071447 GC0XM072487 GC0XM073139 GC0XM074056 GC0XM067906 |
Summaries
for ABCB7 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 ABCB7:
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 aredivided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of theMDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigenpresentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to thecytosol. 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) andsideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for thisgene. (provided by RefSeq, Nov 2012)
UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027Function: Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in thematuration of cytosolic iron-sulfur (Fe/S) cluster-containing proteins
Gene Wiki entry for ABCB7
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 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
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: Xq13.3ABCB7 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for ABCB7 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: 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 Q9UP01Alternative splicing: 2 isoforms: O75027-1 O75027-2 Explore the universe of human proteins at neXtProt for ABCB7: NX_O75027
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O75027
4 DME Specific Peptides for ABCB7 (O75027)
ABCB7 Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ABCB7 for ontologies About GeneDecksing
ABCB7 Antibody Products:
Assay Products for ABCB7: |
Protein
Domains /
Families
for ABCB7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ABCB7 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry O75027ProtoNet protein and cluster: O75027 UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027Similarity: Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamilySimilarity: Contains 1 ABC transmembrane type-1 domainSimilarity: Contains 1 ABC transporter domain |
Function
for ABCB7 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: ABCB7_HUMAN, O75027Function: Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in thematuration 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,ubiquitouslyexpressed,located in the mitochondrial inner membrane
Enzyme Numbers (IUBMB): EC 3.6.32 EC 3.6.3.422
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCB7 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCB7
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ABCB7 (NM_004299) | |  | Sino Biological Human cDNA Clone for ABCB7 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCB7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB7 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB7 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005524 | ATP binding |
IEA | -- | | GO:0015232 | heme transporter activity |
TAS | 9621516 | | GO:0042626 | ATPase activity, coupled to transmembrane movement of substances |
IBA | -- |
ABCB7 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ABCB7:
Animal Models:
Mouse knock-out Abcb7tm1.1Mdf for ABCB7
8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Abcb7):
ABCB7 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ABCB7 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-pathway | contained gene-specific pathways |
|---|
| 1 | Cytosolic Iron-sulfur Cluster Assembly | | | 2 | ABC-family proteins mediated transport | | | 3 | Mitochondrial ABC transporters | | | 4 | Metabolism | | | 5 | SLC-mediated transmembrane transport | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for ABCB7 (see all 6)
1 
Kegg Pathway (Kegg details for ABCB7):
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)
5/249 Interacting proteins for ABCB7 (O750272, 3 ENSP000002535774) via UniProtKB, MINT, STRING, and/or I2D (see all 249)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
ABCB7 for ontologies About GeneDecksing
|
Drugs & Compounds
for ABCB7 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
|
ABCB7 for compounds About GeneDecksing
 Browse Tocris compounds for ABCB7
2 HMDB Compounds for ABCB7 About this table
10/43 Novoseek 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
|
Transcripts
for ABCB7 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 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: BX6484209 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCB7 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCB7
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ABCB7 (NM_004299) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCB7 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB7 |
Additional cDNA 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 BG109895 BF001423 CR612563 F34862 BC006323 AA305099 BF724380 AW271773 AA974072 CA314242 BM662767 BT009918 AA403130 BX355370 AA226777 BM975299 BX537833 AK001418 AA923765 AA282065 AF133659 AW662400 AI128014
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
|
Expression
for ABCB7 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
| ABCB7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATAACCCCAA
About this image
See ABCB7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABCB7
SOURCE GeneReport for Unigene cluster: Hs.370480
SABiosciences Custom PCR Arrays for ABCB7
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCB7
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ABCB7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCB7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCB7 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB7 |
Orthologs
for ABCB7 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 eukaryotes.
Orthologs for ABCB7 gene from 8/35 species (see all 35) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
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 |
-- |
82(a) |
1 ↔ 1 |
GL343825.1(8626-63014) |
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 |
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
for ABCB7 gene(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
|
Genomic Variants
for ABCB7 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ABCB7 (74273105 - 74376567 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
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 |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCB7 |
|
Disorders
/ Diseases
for ABCB7 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
|
ABCB7 for disorders About GeneDecksing
OMIM gene information: 300135
OMIM disorders: 301310
UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027
Defects in ABCB7 are the cause of X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]. ASAT is arecessive disorder characterized by an infantile to early childhood onset of nonprogressive cerebellar ataxia and mildanemia with hypochromia and microcytosis
20/80  diseases for ABCB7 (see all 80): About MalaCardsx-linked sideroblastic anemia x-linked sideroblastic anemia with ataxia sideroblastic anemia anemia
ataxia portal vein thrombosis nephropathia epidemica anemia, sideroblastic, with ataxia
alcohol abuse myocardial infarction friedreich ataxia acute myocardial infarction
nonalcoholic steatohepatitis intrahepatic cholestasis substance abuse intrahepatic cholestasis of pregnancy
iron overload visceral leishmaniasis primary biliary cirrhosis sleeping sickness
4 diseases from the University of Copenhagen DISEASES database for ABCB7:Spinocerebellar ataxia Anemia Bone marrow disease Pearson syndrome 10/48 Novoseek 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
X-Linked Sideroblastic Anemia and Ataxia
Human Genome Epidemiology (HuGE) Navigator: ABCB7 (2 documents)
Export disorders for ABCB7 gene to outside databases
|
Publications
for ABCB7 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 ABCB7 gene, integrated from 9 sources (see all 255):
(articles sorted by number of sources associating them with ABCB7) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- 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)
- 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)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- 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)
- Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. (PubMed id 9883897)1, 2 Csere P.... Kispal G. (1998)
- 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)
- Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. (PubMed id 12480705)1, 9 Taketani S....Furukawa T. (2003)
- The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. (PubMed id 18398482)1, 9 Boultwood J....Wainscoat J.S. (2008)
|
External Searches for ABCB7 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ABCB7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ABCB7 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ABCB7 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
|
| Name | Description |
| PharmGKB entry for ABCB7 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCB7 | | ABCMdb | http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O75027 |
|
| | |
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
|
Products
for ABCB7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ABCB7 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCB7 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCB7 | | | OriGene Protein Over-expression Lysate for ABCB7 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ABCB7 | | OriGene 3'-UTR Clone for ABCB7 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCB7 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCB7 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ABCB7 | | OriGene Custom Protein Services for ABCB7 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCB7 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCB7 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCB7 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCB7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCB7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCB7 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for ABCB7 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | ABCB7 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB7 |
|  |  |  | | | | ThermoFisher Antibodies for ABCB7 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB7 |
|
|
|
|
