Human Gene ABCB7 (ENST00000645829.3) from GENCODE V44
  Description: ATP binding cassette subfamily B member 7 (from HGNC ABCB7)
RefSeq Summary (NM_004299): 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].
Gencode Transcript: ENST00000645829.3
Gencode Gene: ENSG00000131269.19
Transcript (Including UTRs)
   Position: hg38 chrX:75,053,293-75,156,282 Size: 102,990 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chrX:75,053,370-75,156,272 Size: 102,903 Coding Exon Count: 17 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:75,053,293-75,156,282)mRNA (may differ from genome)Protein (757 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ABCB7
Diseases sorted by gene-association score: anemia, sideroblastic, with ataxia* (1550), x-linked sideroblastic anemia with ataxia* (528), sideroblastic anemia (22), anemia, sideroblastic, 1 (17), atransferrinemia (9), cerebellar ataxia (9), alcohol abuse (8), congenital disorder of glycosylation, type ia (7), viral hepatitis (6), sleeping sickness (5), liver disease (4), muscular dystrophy, rigid spine, 1 (4), substance abuse (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.65 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 371.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -10.6077-0.138 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  BC006323 - Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7, mRNA (cDNA clone MGC:12887 IMAGE:4138236), complete cds.
AB005289 - Homo sapiens mRNA for ABC transporter 7 protein, complete cds.
BX537833 - Homo sapiens mRNA; cDNA DKFZp686K20196 (from clone DKFZp686K20196); complete cds.
AF038950 - Homo sapiens ATP binding cassette transporter mRNA, complete cds.
AF078777 - Homo sapiens ABC transporter (ATM1) mRNA, partial cds; nuclear gene for mitochondrial product.
AF133659 - Homo sapiens ATP-binding cassette 7 iron transporter (ABC7) mRNA, complete cds; nuclear gene for mitochondrial product.
BT009918 - Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 mRNA, complete cds.
DQ890692 - Synthetic construct clone IMAGE:100003322; FLH165176.01X; RZPDo839G11158D ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7) gene, encodes complete protein.
EU176476 - Synthetic construct Homo sapiens clone IMAGE:100011340; FLH165175.01L; RZPDo839E01253D ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7) gene, encodes complete protein.
KU177872 - Homo sapiens ATP-binding cassette sub-family B member 7 isoform 1 (ABCB7) mRNA, partial cds.
KU177873 - Homo sapiens ATP-binding cassette sub-family B member 7 isoform 3 (ABCB7) mRNA, complete cds, alternatively spliced.
KU177874 - Homo sapiens ATP-binding cassette sub-family B member 7 isoform 4 (ABCB7) mRNA, partial cds, alternatively spliced.
KU177875 - Homo sapiens ATP-binding cassette sub-family B member 7 isoform 5 (ABCB7) mRNA, complete cds, alternatively spliced.
AK294657 - Homo sapiens cDNA FLJ53391 partial cds, highly similar to ATP-binding cassette sub-family B member 7, mitochondrial precursor.
AK307414 - Homo sapiens cDNA, FLJ97362.
AK001418 - Homo sapiens cDNA FLJ10556 fis, clone NT2RP2002479, highly similar to ATP-binding cassette sub-family B member 7, mitochondrial precursor.
CU675349 - Synthetic construct Homo sapiens gateway clone IMAGE:100020541 5' read ABCB7 mRNA.
U66679 - Homo sapiens clone EST140535 mRNA sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa02010 - ABC transporters

-  Other Names for This Gene
  Alternate Gene Symbols: A0A5F9ZA98, AB005289, ENST00000645829.1, ENST00000645829.2, uc004ebz.1, uc004ebz.2, uc004ebz.3, uc004ebz.4, uc004ebz.5, uc004ebz.6, uc004ebz.7
UCSC ID: ENST00000645829.3
RefSeq Accession: NM_004299
CCDS: CCDS14428.1, CCDS65291.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.