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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
  • PRP 3 4
  • ATP-Binding Cassette Sub-Family B Member 6, Mitochondrial 3
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 2
  • ATP-Binding Cassette Sub-Family B Member 6 3
  • Umat 3
  • UMAT 4
  • 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

  • This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]

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 Dyschromatosis Universalis Hereditaria 3 and Microphthalmia, Isolated, With Coloboma 7. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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

Additional gene information for ABCB6 Gene

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

Genomics for ABCB6 Gene

GeneHancer (GH) Regulatory Elements for ABCB6 Gene

Promoters and enhancers for ABCB6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J219216 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.5 +0.8 750 3.5 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B ABCB6 GC02M219220 PIR34268 ATG9A CNOT9 STK11IP RNF25 ZNF142 AAMP GLB1L
GH02J219209 Promoter/Enhancer 1.1 EPDnew ENCODE 650.4 +8.3 8294 3.1 SCRT1 CTCF SAP130 ARID4B ZNF384 RAD21 ZNF121 ZGPAT POLR2A ZBTB33 ABCB6 TUBA4B ZFAND2B GC02M219220 PIR34268 ENSG00000284820
GH02J219244 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.4 -31.1 -31101 11.2 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 GLIS1 GLB1L TUBA4A STK16 ZFAND2B LINC00608 LINC01803 ANKZF1 ATG9A DNAJB2 MIR153-1
GH02J219227 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.2 -10.6 -10591 3.4 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ATG9A ANKZF1 USP37 NHEJ1 DNPEP GLB1L ABCB6 AAMP CNOT9 TUBA4B
GH02J219205 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.7 +11.7 11705 2.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZFAND2B GLB1L CNOT9 STK11IP RNF25 ZNF142 AAMP STK36 ABCB6 GC02M219220
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCB6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCB6 gene promoter:
  • ATF-2
  • c-Jun
  • AP-1
  • NF-kappaB1
  • MyoD
  • NF-kappaB

Genomic Locations for ABCB6 Gene

Genomic Locations for ABCB6 Gene
chr2:219,209,766-219,219,017
(GRCh38/hg38)
Size:
9,252 bases
Orientation:
Minus strand
chr2:220,074,488-220,083,712
(GRCh37/hg19)
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

Post-translational modifications for ABCB6 Gene

  • Ubiquitination at posLast=482482
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB6 Gene

No data available for DME Specific Peptides for ABCB6 Gene

Domains & Families for ABCB6 Gene

Gene Families for ABCB6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

Q9NP58

UniProtKB/Swiss-Prot:

ABCB6_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
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

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).
GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 6

Phenotypes From GWAS Catalog for ABCB6 Gene

Gene Ontology (GO) - Molecular Function for ABCB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IDA,IEA 10837493
GO:0015232 heme transporter activity TAS --
GO:0015439 heme-transporting ATPase activity IMP 17006453
GO:0015562 efflux transmembrane transporter activity IDA 17661442
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

  • Taconic Biosciences Mouse Models for ABCB6

CRISPR Products

miRNA for ABCB6 Gene

miRTarBase miRNAs that target ABCB6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB6

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 ABCB6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
endosome 5
nucleus 4
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Cytosol (3)
  • Mitochondria (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005654 nucleoplasm IDA --
GO:0005739 NOT mitochondrion IDA 18279659
GO:0005740 mitochondrial envelope IDA 10837493
GO:0005741 mitochondrial outer membrane TAS --
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:0006779 porphyrin-containing compound biosynthetic process IDA 17006453
GO:0006879 cellular iron ion homeostasis NAS 11977179
GO:0007420 brain development IMP 22100072
GO:0015886 heme transport IMP 17006453
GO:0043588 skin development IMP 22100072
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Elacridar Investigational Pharma BCRP inhibitor 0
Elacridar hydrochloride Pharma BCRP and P-GP inhibitor 0
heme Pharma Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for ABCB6 Gene

Compound Action Cas Number
Elacridar BCRP inhibitor 143664-11-3
Elacridar hydrochloride BCRP and P-GP inhibitor 143851-98-3
genes like me logo Genes that share compounds with ABCB6: view

Drug Products

Transcripts for ABCB6 Gene

mRNA/cDNA for ABCB6 Gene

Unigene Clusters for ABCB6 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB6

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ABCB6 Gene



Protein tissue co-expression partners for ABCB6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCB6 Gene:

ABCB6

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.

Evidence on tissue expression from TISSUES for ABCB6 Gene

  • Liver(4.2)
  • Nervous system(4.2)
  • Intestine(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCB6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • aorta
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
  • ureter
  • uterus
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ABCB6: view

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
chimpanzee
(Pan troglodytes)
Mammalia ABCB6 34 33
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB6 34 33
  • 89.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABCB6 34 33
  • 88.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb6 16 34 33
  • 86.95 (n)
rat
(Rattus norvegicus)
Mammalia Abcb6 33
  • 86.83 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCB6 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB6 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB6 34 33
  • 69.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCB6 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb6 33
  • 63.64 (n)
zebrafish
(Danio rerio)
Actinopterygii abcb6b 34
  • 67 (a)
OneToMany
abcb6a 34 33
  • 65.32 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002278 33
  • 57.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4225 35
  • 57 (a)
Hmt-1 34 33
  • 56.18 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea W09D6.6 35
  • 58 (a)
hmt-1 34 33
  • 55.31 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATM1 34
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00010 33
  • 50.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hmt1 33
  • 48.53 (n)
Species where no ortholog for ABCB6 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCB6: view image

Paralogs for ABCB6 Gene

Paralogs for ABCB6 Gene

(13) SIMAP similar genes for ABCB6 Gene using alignment to 12 proteins:

  • ABCB6_HUMAN
  • H7BXK9_HUMAN
  • H7C049_HUMAN
  • H7C1R6_HUMAN
  • H7C245_HUMAN
  • H7C3Z0_HUMAN
  • U3TD89_HUMAN
  • U3TGG4_HUMAN
  • U3THN0_HUMAN
  • U3THP2_HUMAN
  • U3TJJ6_HUMAN
  • U3TJK0_HUMAN
genes like me logo Genes that share paralogs with ABCB6: view

Variants for ABCB6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB6 Gene

ABCB6_HUMAN-Q9NP58
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 Variation AA Info Type
rs148211042 pathogenic, Pseudohyperkalemia, familial, 2, due to red cell leak, Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] 219,210,799(-) C/T coding_sequence_variant, missense_variant
rs148458820 affects, Langereis blood group 219,216,803(-) C/T coding_sequence_variant, stop_gained
rs149202834 affects, Langereis blood group 219,217,783(-) G/A coding_sequence_variant, missense_variant
rs150221689 uncertain-significance, Microphthalmia, isolated, with coloboma 7 219,217,782(-) C/T coding_sequence_variant, missense_variant
rs376664522 affects, Langereis blood group 219,212,413(-) G/A coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv584500 CNV loss 21841781
esv3893555 CNV loss 25118596

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)

Additional Variant Information for ABCB6 Gene

Human Gene Mutation Database (HGMD)
ABCB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB6

SNP Genotyping and Copy Number Assay Products

Disorders for ABCB6 Gene

MalaCards: The human disease database

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

- 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
  • 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.
  • 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.
  • Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]: 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. {ECO:0000269 PubMed:23180570, ECO:0000269 PubMed:24947683}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ABCB6

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

No data available for Genatlas for ABCB6 Gene

Publications for ABCB6 Gene

  1. Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus. (PMID: 18279659) Tsuchida M … Sakaguchi M (Biochemical and biophysical research communications 2008) 3 4 22 58
  2. Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6. (PMID: 11955620) Emadi-Konjin HP … Furuya KN (Biochimica et biophysica acta 2002) 3 4 22 58
  3. ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. (PMID: 11977179) Visapää I … Peltonen L (American journal of medical genetics 2002) 3 22 44 58
  4. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. (PMID: 10837493) Mitsuhashi N … Seino S (The Journal of biological chemistry 2000) 3 4 22 58
  5. Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. (PMID: 25288164) Lu C … Zhang X (Journal of dermatological science 2014) 3 4 58

Products for ABCB6 Gene

Sources for ABCB6 Gene

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