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Aliases for ABCB8 Gene

Aliases for ABCB8 Gene

  • ATP Binding Cassette Subfamily B Member 8 2 3 5
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 8 2 3
  • Mitochondrial ATP-Binding Cassette 1 3 4
  • Mitochondrial ABC Protein 2 3
  • M-ABC1 3 4
  • MABC1 3 4
  • EST328128 3
  • EC 3.6.3 63

External Ids for ABCB8 Gene

Previous GeneCards Identifiers for ABCB8 Gene

  • GC07P148972
  • GC07P150040
  • GC07P150117
  • GC07P150164
  • GC07P150356
  • GC07P150725
  • GC07P144537

Summaries for ABCB8 Gene

Entrez Gene Summary for ABCB8 Gene

  • This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for ABCB8 Gene

ABCB8 (ATP Binding Cassette Subfamily B Member 8) is a Protein Coding gene. Diseases associated with ABCB8 include parasitic ectoparasitic infectious disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is TAP1.

Gene Wiki entry for ABCB8 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB8 Gene

Genomics for ABCB8 Gene

Regulatory Elements for ABCB8 Gene

Promoters for ABCB8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCB8 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCB8 Gene

Chromosome:
7
Start:
151,028,422 bp from pter
End:
151,047,782 bp from pter
Size:
19,361 bases
Orientation:
Plus strand

Genomic View for ABCB8 Gene

Genes around ABCB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB8 Gene

Proteins for ABCB8 Gene

  • Protein details for ABCB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUT2-ABCB8_HUMAN
    Recommended name:
    ATP-binding cassette sub-family B member 8, mitochondrial
    Protein Accession:
    Q9NUT2
    Secondary Accessions:
    • A5D8W3
    • B2RBL8
    • B3KND2
    • B4DG02
    • G3XAP3
    • O95787
    • Q53GM0

    Protein attributes for ABCB8 Gene

    Size:
    735 amino acids
    Molecular mass:
    79989 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for ABCB8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB8 Gene

Proteomics data for ABCB8 Gene at MOPED

Selected DME Specific Peptides for ABCB8 Gene

Post-translational modifications for ABCB8 Gene

  • Ubiquitination at Lys 247, Lys 573, and Lys 628
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ABCB8 Gene

Gene Families for ABCB8 Gene

Protein Domains for ABCB8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NUT2

UniProtKB/Swiss-Prot:

ABCB8_HUMAN :
  • Contains 1 ABC transmembrane type-1 domain.
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
Domain:
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
genes like me logo Genes that share domains with ABCB8: view

Function for ABCB8 Gene

Molecular function for ABCB8 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 8,ubiquitously expressed,located in mitochondrial inner membrane

Enzyme Numbers (IUBMB) for ABCB8 Gene

genes like me logo Genes that share phenotypes with ABCB8: view

Animal Model Products

miRNA for ABCB8 Gene

miRTarBase miRNAs that target ABCB8

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABCB8 Gene

Localization for ABCB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB8 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB8 Gene COMPARTMENTS Subcellular localization image for ABCB8 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ABCB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane TAS 9878413
genes like me logo Genes that share ontologies with ABCB8: view

Pathways & Interactions for ABCB8 Gene

genes like me logo Genes that share pathways with ABCB8: view

Pathways by source for ABCB8 Gene

Interacting Proteins for ABCB8 Gene

Gene Ontology (GO) - Biological Process for ABCB8 Gene

None

No data available for SIGNOR curated interactions for ABCB8 Gene

Drugs & Compounds for ABCB8 Gene

(2) Drugs for ABCB8 Gene - From: FDA Approved Drugs and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Transporter, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1582
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1582
genes like me logo Genes that share compounds with ABCB8: view

Transcripts for ABCB8 Gene

Unigene Clusters for ABCB8 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB8 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7a · 7b · 7c ^
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - - - - - - - - - - - - -
SP11:
SP12: - - - -
SP13: - - - - - - - - - - - - - - - - -
SP14: - - - - - - - - - - - -
SP15: - -
SP16: - - - - - - - - - - - -
SP17: - - - - - - - - - - -
SP18: - - - - - - - - - - - - - - - - -
SP19: - -
SP20: - - - - - - - - - -
SP21:
SP22:
SP23: - - - - - - - -
SP24: - - - - - - - - -
SP25: - - - - - -
SP26: - - - - - -
SP27: - - - - - - - -

ExUns: 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21: -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b · 32c
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

Relevant External Links for ABCB8 Gene

GeneLoc Exon Structure for
ABCB8
ECgene alternative splicing isoforms for
ABCB8

Expression for ABCB8 Gene

mRNA expression in normal human tissues for ABCB8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCB8 Gene

This gene is overexpressed in Serum (54.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCB8 Gene



SOURCE GeneReport for Unigene cluster for ABCB8 Gene Hs.647118

mRNA Expression by UniProt/SwissProt for ABCB8 Gene

Q9NUT2-ABCB8_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ABCB8: view

Protein tissue co-expression partners for ABCB8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ABCB8 Gene

Orthologs for ABCB8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCB8 35
  • 85.69 (n)
  • 87.02 (a)
ABCB8 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB8 35
  • 86.12 (n)
  • 87.52 (a)
ABCB8 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb8 35
  • 83.03 (n)
  • 84.76 (a)
Abcb8 16
Abcb8 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCB8 35
  • 99.35 (n)
  • 99.44 (a)
ABCB8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb8 35
  • 82.96 (n)
  • 83.33 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCB8 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB8 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB8 35
  • 70.68 (n)
  • 68.05 (a)
lizard
(Anolis carolinensis)
Reptilia ABCB8 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb8 35
  • 63.95 (n)
  • 63.02 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb8 35
  • 65.57 (n)
  • 68.74 (a)
Dr.18475 35
abcb8 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10226 37
  • 54 (a)
CG1824 37
  • 51 (a)
CG1824 35
  • 56.88 (n)
  • 53.19 (a)
CG1824 36
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006273 35
  • 56.9 (n)
  • 53.1 (a)
worm
(Caenorhabditis elegans)
Secernentea haf-6 35
  • 53.75 (n)
  • 51.21 (a)
haf-6 36
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 36
  • 28 (a)
ManyToMany
MDL2 36
  • 26 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6372 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for ABCB8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCB8 Gene

ENSEMBL:
Gene Tree for ABCB8 (if available)
TreeFam:
Gene Tree for ABCB8 (if available)

Paralogs for ABCB8 Gene

Paralogs for ABCB8 Gene

genes like me logo Genes that share paralogs with ABCB8: view

Variants for ABCB8 Gene

Sequence variations from dbSNP and Humsavar for ABCB8 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs4148844 - 151,033,912(+) TAGCC(A/G)TCGTG intron-variant, reference, missense
VAR_035733 A breast cancer sample
VAR_035734 A breast cancer sample
rs891506 -- 151,045,613(+) GTTCC(A/C)CGAGA utr-variant-3-prime
rs1063963 -- 151,042,080(+) ACCAG(C/T)TTCCC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ABCB8 Gene

Variant ID Type Subtype PubMed ID
nsv889465 CNV Loss 21882294
nsv889469 CNV Gain 21882294
nsv889471 CNV Loss 21882294
nsv526410 CNV Loss 19592680
nsv889475 CNV Loss 21882294
nsv889476 CNV Loss 21882294
nsv524928 CNV Gain 19592680
nsv889477 CNV Loss 21882294
dgv7545n71 CNV Loss 21882294
nsv831188 CNV Loss 17160897
dgv7546n71 CNV Loss 21882294

Variation tolerance for ABCB8 Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.39; 77.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCB8 Gene

HapMap Linkage Disequilibrium report
ABCB8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB8 Gene

Disorders for ABCB8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABCB8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
parasitic ectoparasitic infectious disease
  • ectoparasitism
- elite association - COSMIC cancer census association via MalaCards
Search ABCB8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABCB8

Genetic Association Database (GAD)
ABCB8
Human Genome Epidemiology (HuGE) Navigator
ABCB8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB8
genes like me logo Genes that share disorders with ABCB8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCB8 Gene

Publications for ABCB8 Gene

  1. Identification and characterization of a mammalian mitochondrial ATP- binding cassette membrane protein. (PMID: 9878413) Hogue D.L. … Ling V. (J. Mol. Biol. 1999) 3 4 23 67
  2. Mitochondrial ABC proteins in health and disease. (PMID: 19248758) Zutz A. … TampAc R. (Biochim. Biophys. Acta 2009) 3 23
  3. ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome. (PMID: 19147539) Elliott A.M. … Al-Hajj M.A. (Mol. Cancer Res. 2009) 3 25
  4. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PMID: 8894702) Allikmets R. … Dean M. (Hum. Mol. Genet. 1996) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ABCB8 Gene

Sources for ABCB8 Gene

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