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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
  • ATP-Binding Cassette Sub-Family B Member 8, Mitochondrial 3
  • EST328128 3
  • EC 3.6.3 61

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 Tick Infestation and Intestinal Tuberculosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CDK-mediated phosphorylation and removal of Cdc6. 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 ABCB10.

Gene Wiki entry for ABCB8 Gene

No data available for CIViC summary , 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

Enhancers for ABCB8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G151056 1.4 ENCODE dbSUPER 31.2 +32.0 32020 7.6 MLX CREB3L1 AGO1 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 ABCB8 ENSG00000244151 TMUB1 AGAP3 ENSG00000243433 ATG9B SLC4A2 SMARCD3 ENSG00000243018 CDK5
GH07G151245 1.6 FANTOM5 ENCODE dbSUPER 21.8 +220.9 220936 9.1 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZNF2 ZNF143 FOS ZNF263 ABCF2 ENSG00000244151 SMARCD3 ABCB8 ASB10 GBX1 SLC4A2 TMUB1 AGAP3 FASTK
GH07G151084 1.4 FANTOM5 ENCODE 23 +59.4 59366 5.9 MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 GLIS1 NBN ABCB8 SLC4A2 AGAP3 FASTK CDK5 ASIC3 SMARCD3 GBX1 ASB10 ENSG00000243433
GH07G150356 1.5 Ensembl ENCODE dbSUPER 19.5 -670.2 -670209 3.6 HDGF ARNT ZFP64 YBX1 ZNF2 ZNF766 ZNF302 ZNF143 FOS ZNF263 REPIN1 ZNF767P ENSG00000244151 ABCB8 ZNF777 ZNF775 LOC105375564 ZBED6CL GC07P150358
GH07G150959 2.1 VISTA Ensembl ENCODE dbSUPER 11.4 -65.7 -65671 7.2 HDGF PKNOX1 CREB3L1 ARNT YBX1 ZNF766 ZNF143 KLF13 TAF15 REST AOC1 ATG9B ENSG00000243433 ABCB8 TMUB1 AGAP3 KCNH2 LOC105375567
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCB8 on UCSC Golden Path with GeneCards custom track

Promoters for ABCB8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219772 78 1401 PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF207 ZNF143

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

Selected DME Specific Peptides for ABCB8 Gene

Q9NUT2:
  • IAHRLSTVR
  • VIAHRLST

Post-translational modifications for ABCB8 Gene

  • Ubiquitination at posLast=247247, posLast=573573, and posLast=628628
  • Modification sites at PhosphoSitePlus

Domains & Families for ABCB8 Gene

Gene Families for ABCB8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NUT2

UniProtKB/Swiss-Prot:

ABCB8_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
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

Gene Ontology (GO) - Molecular Function for ABCB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9878413
GO:0005524 ATP binding TAS,IEA --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
genes like me logo Genes that share ontologies with ABCB8: view
genes like me logo Genes that share phenotypes with ABCB8: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCB8

CRISPR Products

miRNA for ABCB8 Gene

miRTarBase miRNAs that target ABCB8

Inhibitory RNA Products

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCB8 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ABCB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
GO:0005740 mitochondrial envelope TAS 9878413
GO:0005743 mitochondrial inner membrane IEA --
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

Gene Ontology (GO) - Biological Process for ABCB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9878413
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with ABCB8: view

No data available for SIGNOR curated interactions for ABCB8 Gene

Drugs & Compounds for ABCB8 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Transporter, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1751
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1751
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ABCB8 Gene



Protein tissue co-expression partners for ABCB8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCB8 Gene:

ABCB8

SOURCE GeneReport for Unigene cluster for ABCB8 Gene:

Hs.647118

mRNA Expression by UniProt/SwissProt for ABCB8 Gene:

Q9NUT2-ABCB8_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ABCB8 Gene

  • Nervous system(4.9)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with ABCB8: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ABCB8 34 35
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia ABCB8 34 35
  • 86.12 (n)
cow
(Bos Taurus)
Mammalia ABCB8 34 35
  • 85.69 (n)
mouse
(Mus musculus)
Mammalia Abcb8 34 16 35
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Abcb8 34
  • 82.96 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCB8 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB8 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB8 34
  • 70.68 (n)
lizard
(Anolis carolinensis)
Reptilia ABCB8 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb8 34
  • 63.95 (n)
zebrafish
(Danio rerio)
Actinopterygii abcb8 34 35
  • 65.57 (n)
Dr.18475 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006273 34
  • 56.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1824 36 34 35
  • 56.88 (n)
CG10226 36
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea haf-6 34 35
  • 53.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 35
  • 28 (a)
ManyToMany
MDL2 35
  • 26 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6372 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToOne
Species where no ortholog for ABCB8 was found in the sources mined by GeneCards:
  • 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

Variants for ABCB8 Gene

Sequence variations from dbSNP and Humsavar for ABCB8 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_035733 A breast cancer sample
VAR_035734 A breast cancer sample
rs1000015650 -- 151,038,764(+) TGGCT(G/T)CTCCC intron-variant
rs1000112131 -- 151,028,344(+) AGGGG(A/G/T)CTGAC upstream-variant-2KB
rs1000150499 -- 151,042,271(+) GAGTC(A/G)TTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
dgv6756n100 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv524928 CNV gain 19592680
nsv526410 CNV loss 19592680
nsv609011 CNV loss 21841781
nsv831188 CNV loss 17160897
nsv951648 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
ABCB8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB8

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

Disorders for ABCB8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ABCB8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tick infestation
  • tick infestations
intestinal tuberculosis
  • tuberculosis of intestine
gastrointestinal tuberculosis
  • tuberculosis of gastrointestinal tract
parasitic ectoparasitic infectious disease
  • ectoparasitism
abdominal tuberculosis
- 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 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Mitochondrial ABC proteins in health and disease. (PMID: 19248758) Zutz A. … TampAc R. (Biochim. Biophys. Acta 2009) 3 22 64

Products for ABCB8 Gene

Sources for ABCB8 Gene

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