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Aliases for ABCB6 Gene

Aliases for ABCB6 Gene

  • ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group) 2 3 5
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 (Langereis Blood Group) 2 3
  • Ubiquitously-Expressed Mammalian ABC Half Transporter 3 4
  • ATP-Binding Cassette Half-Transporter 2 3
  • Mitochondrial ABC Transporter 3 3 4
  • P-Glycoprotein-Related Protein 3 4
  • Mt-ABC Transporter 3 3 4
  • MTABC3 3 4
  • Umat 3 4
  • PRP 3 4
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 2
  • EC 3.6.3 63
  • MCOPCB7 3
  • ABC14 3
  • PSHK2 3
  • DUH3 3
  • ABC 3
  • LAN 3

External Ids for ABCB6 Gene

Previous GeneCards Identifiers for ABCB6 Gene

  • GC02M218090
  • GC02M218795
  • GC02M220038
  • GC02M220277
  • GC02M219899
  • GC02M219782
  • GC02M211927
  • GC02M220075

Summaries for ABCB6 Gene

Entrez Gene Summary for ABCB6 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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCB6 Gene

ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)) is a Protein Coding gene. Diseases associated with ABCB6 include microphthalmia, isolated, with coloboma 7 and dyschromatosis universalis hereditaria 3. 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 ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB7.

UniProtKB/Swiss-Prot for ABCB6 Gene

  • Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.

Gene Wiki entry for ABCB6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB6 Gene

Genomics for ABCB6 Gene

Regulatory Elements for ABCB6 Gene

Promoters for ABCB6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCB6 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCB6 Gene

Chromosome:
2
Start:
219,209,766 bp from pter
End:
219,218,990 bp from pter
Size:
9,225 bases
Orientation:
Minus strand

Genomic View for ABCB6 Gene

Genes around ABCB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB6 Gene

Proteins for ABCB6 Gene

  • Protein details for ABCB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP58-ABCB6_HUMAN
    Recommended name:
    ATP-binding cassette sub-family B member 6, mitochondrial
    Protein Accession:
    Q9NP58
    Secondary Accessions:
    • O75542
    • Q49A66
    • Q59GQ5
    • Q6ZME6
    • Q96ME8
    • Q9HAQ6
    • Q9HAQ7

    Protein attributes for ABCB6 Gene

    Size:
    842 amino acids
    Molecular mass:
    93886 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis.
    SequenceCaution:
    • Sequence=AAG33617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAG33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH43423.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAD18782.1; Type=Erroneous termination; Positions=168; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABCB6 Gene

    Alternative splice isoforms for ABCB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB6 Gene

Proteomics data for ABCB6 Gene at MOPED

Selected DME Specific Peptides for ABCB6 Gene

Post-translational modifications for ABCB6 Gene

  • Ubiquitination at Lys 482
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB6 Gene

Antibody Products

Domains & Families for ABCB6 Gene

Gene Families for ABCB6 Gene

Protein Domains for ABCB6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NP58

UniProtKB/Swiss-Prot:

ABCB6_HUMAN :
  • Contains 1 ABC transmembrane type-1 domain.
  • Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
Domain:
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
genes like me logo Genes that share domains with ABCB6: view

Function for ABCB6 Gene

Molecular function for ABCB6 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 6
UniProtKB/Swiss-Prot Function:
Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by cellular porphyrins (at protein level). Up-regulated during erythroid differentiation (at protein level).

Enzyme Numbers (IUBMB) for ABCB6 Gene

Gene Ontology (GO) - Molecular Function for ABCB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015232 heme transporter activity TAS --
genes like me logo Genes that share ontologies with ABCB6: view
genes like me logo Genes that share phenotypes with ABCB6: view

Human Phenotype Ontology for ABCB6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCB6 Gene

MGI Knock Outs for ABCB6:

Animal Model Products

miRNA for ABCB6 Gene

miRTarBase miRNAs that target ABCB6

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ABCB6 Gene

Localization for ABCB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB6 Gene

Cell membrane; Multi-pass membrane protein. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein. Note=localized to the endosome-like compartement and dendrite tips. {ECO:0000250 UniProtKB:Q9DC29}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB6 Gene COMPARTMENTS Subcellular localization image for ABCB6 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
extracellular 5
golgi apparatus 5
mitochondrion 5
plasma membrane 5
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ABCB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 NOT mitochondrion IDA 18279659
GO:0005741 mitochondrial outer membrane TAS --
GO:0005743 mitochondrial inner membrane IBA --
GO:0005768 endosome IEA,ISS --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with ABCB6: view

Pathways & Interactions for ABCB6 Gene

genes like me logo Genes that share pathways with ABCB6: view

Pathways by source for ABCB6 Gene

Gene Ontology (GO) - Biological Process for ABCB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,IDA 10837493
genes like me logo Genes that share ontologies with ABCB6: view

No data available for SIGNOR curated interactions for ABCB6 Gene

Drugs & Compounds for ABCB6 Gene

(9) Drugs for ABCB6 Gene - From: Novoseek, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Elacridar Investigational Pharma BCRP inhibitor 0
heme Pharma Agonist 0

(1) Additional Compounds for ABCB6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ABCB6 Gene

Compound Action Cas Number
Elacridar BCRP inhibitor 143664-11-3
genes like me logo Genes that share compounds with ABCB6: view

Transcripts for ABCB6 Gene

Unigene Clusters for ABCB6 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - - -
SP2: - - - - - -
SP3: -
SP4:
SP5: - - - - -
SP6: - - -
SP7: -
SP8:
SP9: - - -
SP10:

ExUns: 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ABCB6 Gene

GeneLoc Exon Structure for
ABCB6
ECgene alternative splicing isoforms for
ABCB6

Expression for ABCB6 Gene

mRNA expression in normal human tissues for ABCB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCB6 Gene

This gene is overexpressed in Nasal epithelium (36.8) and Peripheral blood mononuclear cells (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCB6 Gene



SOURCE GeneReport for Unigene cluster for ABCB6 Gene Hs.107911

mRNA Expression by UniProt/SwissProt for ABCB6 Gene

Q9NP58-ABCB6_HUMAN
Tissue specificity: Widely expressed. High expression is detected in the retinal epithelium.
genes like me logo Genes that share expression patterns with ABCB6: view

Protein tissue co-expression partners for ABCB6 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ABCB6 Gene

Orthologs for ABCB6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCB6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCB6 35
  • 88.56 (n)
  • 89.39 (a)
ABCB6 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB6 35
  • 89.96 (n)
  • 89.25 (a)
ABCB6 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb6 35
  • 86.95 (n)
  • 89.38 (a)
Abcb6 16
Abcb6 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCB6 35
  • 99.49 (n)
  • 99.64 (a)
ABCB6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb6 35
  • 86.83 (n)
  • 88.38 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCB6 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB6 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB6 35
  • 69.36 (n)
  • 66.55 (a)
ABCB6 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCB6 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb6 35
  • 63.64 (n)
  • 64.57 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb6a 35
  • 65.32 (n)
  • 65.45 (a)
abcb6a 36
  • 62 (a)
OneToMany
abcb6b 36
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4225 37
  • 57 (a)
Hmt-1 35
  • 56.18 (n)
  • 52.49 (a)
Hmt-1 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002278 35
  • 57.76 (n)
  • 52.95 (a)
worm
(Caenorhabditis elegans)
Secernentea W09D6.6 37
  • 58 (a)
hmt-1 35
  • 55.31 (n)
  • 55.99 (a)
hmt-1 36
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATM1 36
  • 36 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00010 35
  • 50.53 (n)
  • 43.59 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hmt1 35
  • 48.53 (n)
  • 46.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToOne
Species with no ortholog for ABCB6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 ABCB6 Gene

ENSEMBL:
Gene Tree for ABCB6 (if available)
TreeFam:
Gene Tree for ABCB6 (if available)

Paralogs for ABCB6 Gene

Paralogs for ABCB6 Gene

genes like me logo Genes that share paralogs with ABCB6: view

Variants for ABCB6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB6 Gene

Q9NP58-ABCB6_HUMAN
Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features.

Sequence variations from dbSNP and Humsavar for ABCB6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs13402964 - 219,212,412(+) CTATT(C/T)GGATG reference, missense
VAR_035732 A breast cancer sample
rs13018440 - 219,216,457(+) AGTCA(C/G)CAAGT reference, missense
rs60322991 - 219,216,123(+) CCCGC(C/T)GAGAC reference, missense
VAR_067394 Microphthalmia, isolated, with coloboma, 7 (MCOPCB7)

Structural Variations from Database of Genomic Variants (DGV) for ABCB6 Gene

Variant ID Type Subtype PubMed ID
nsv875869 CNV Loss 21882294
nsv875870 CNV Gain+Loss 21882294

Variation tolerance for ABCB6 Gene

Residual Variation Intolerance Score: 74.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.20; 61.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCB6 Gene

HapMap Linkage Disequilibrium report
ABCB6
Human Gene Mutation Database (HGMD)
ABCB6

Disorders for ABCB6 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ABCB6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, isolated, with coloboma 7
  • microphthalmia, isolated with coloboma 7
dyschromatosis universalis hereditaria 3
  • dyschromatosis symmetrica hereditaria
dyschromatosis universalis
pityriasis rubra pilaris
  • devergie's disease
psoriasis 2
  • psoriasis
- elite association - COSMIC cancer census association via MalaCards
Search ABCB6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCB6_HUMAN
  • Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269 PubMed:23519333, ECO:0000269 PubMed:24224009, ECO:0000269 PubMed:24498303, ECO:0000269 PubMed:25288164}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269 PubMed:22226084}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=ABCB6 mutations are involved in familial pseudohyperkalemia, a dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape (PubMed:23180570). {ECO:0000269 PubMed:23180570}.

Relevant External Links for ABCB6

Genetic Association Database (GAD)
ABCB6
Human Genome Epidemiology (HuGE) Navigator
ABCB6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB6
genes like me logo Genes that share disorders with ABCB6: view

No data available for Genatlas for ABCB6 Gene

Publications for ABCB6 Gene

  1. ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. (PMID: 11977179) VisapAoAo I. … Peltonen L. (Am. J. Med. Genet. 2002) 3 23 48 67
  2. Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus. (PMID: 18279659) Tsuchida M. … Sakaguchi M. (Biochem. Biophys. Res. Commun. 2008) 3 23
  3. Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6. (PMID: 11955620) Emadi-Konjin H.-P. … Furuya K.N. (Biochim. Biophys. Acta 2002) 3 23
  4. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. (PMID: 10837493) Mitsuhashi N. … Seino S. (J. Biol. Chem. 2000) 3 23
  5. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3

Products for ABCB6 Gene

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