ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group))

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10058
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily B member 6 (LAN blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCB6
Synonyms (NCBI Gene) Gene synonyms aliases
ABC, LAN, MTABC3, PRP, umat
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
Summary Summary of gene provided in NCBI Entrez 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 p
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(16)
SNP ID Visualize variation Clinical significance Consequence
rs148211042 C>T Pathogenic Missense variant, coding sequence variant
rs148458820 C>T Affects Coding sequence variant, stop gained
rs149202834 G>A Affects Missense variant, coding sequence variant, intron variant
rs376664522 G>A Affects Coding sequence variant, stop gained
rs387906908 AT>- Affects Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT023567 hsa-miR-1-3p Proteomics 18668040
MIRT029048 hsa-miR-26b-5p Microarray 19088304
MIRT531711 hsa-miR-7113-5p PAR-CLIP 22012620
MIRT531711 hsa-miR-7113-5p PAR-CLIP 22012620
MIRT1923590 hsa-miR-3677-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(79)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IDA 10837493, 27507172
GO:0005524 Function ATP binding IEA
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
605452 47 ENSG00000115657
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID Q9NP58
Protein name ATP-binding cassette sub-family B member 6 (ABC-type heme transporter ABCB6) (EC 7.6.2.5) (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)
Protein function ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:17661442, PubMed:23792964, PubMed:27507172, PubM
PDB 3NH6 , 3NH9 , 3NHA , 3NHB , 7D7N , 7D7R , 7DNY , 7DNZ , 7EKL , 7EKM , 8FWK , 8K7B , 8K7C , 8YR3 , 8YR4 , 9DBQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16185 MTABC_N 6 → 255 Mitochondrial ABC-transporter N-terminal five TM region Family
PF00664 ABC_membrane 265 → 544 ABC transporter transmembrane region Family
PF00005 ABC_tran 606 → 755 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. High expression is detected in the retinal epithelium (PubMed:10837493, PubMed:22226084). Expressed in mature erythrocytes (PubMed:22655043). {ECO:0000269|PubMed:10837493, ECO:0000269|PubMed:22226084, ECO:0000269|PubM
Sequence 
MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGAD
SLSWGAGPRISPYVLQLLLATLQAALPLAGLAGRVGTARGAPLPSYLLLASVLESLAGAC
GLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAAENLALVSWNSPQWWWARADL
GQQVQFSLWVLRYVVSGGLFVLGLWAPGLRPQSYTLQVHEEDQDVERSQVRSAAQQSTWR
DFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWN
SLAWTVTSYVFLKFLQGGGTGSTGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRW
HLGRRTGEVLRIADRGTSSVTGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLC
MSLYLTLTIVVTEWRTKFRRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAI
IKYQGLEWKSSASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKLQVGDYVLFGTYIIQL
YMPLNWFGTYYRMIQTNFIDMENMFDLLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYA
DGRETLQDVSFTVMPGQTLALVGPSGAGKSTILRLLFRFYDISSGCIRIDGQDISQVTQA
SLRSHIGVVPQDTVLFNDTIADNIRYGRVTAGNDEVEAAAQAAGIHDAIMAFPEGYRTQV
GERGLKLSGGEKQRVAIARTILKAPGIILLDEATSALDTSNERAIQASLAKVCANRTTIV
VAHRLSTVVNADQILVIKDGCIVERGRHEALLSRGGVYADMWQLQQGQEETSEDTKPQTM
ER
Sequence length 842
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dyschromatosis Universalis Hereditaria dyschromatosis universalis hereditaria 3 rs796065353, rs397514756, rs397514757, rs397514758 N/A
Microphthalmia With Coloboma microphthalmia, isolated, with coloboma 7 rs387906910 N/A
Pseudohyperkalemia Cardiff familial pseudohyperkalemia rs754667801, rs764893806 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hereditary Coproporphyria hereditary coproporphyria N/A N/A ClinVar
Intermittent Porphyria acute intermittent porphyria N/A N/A ClinVar
Protoporphyria, Erythropoietic protoporphyria, erythropoietic, 1 N/A N/A ClinVar
Variegate Porphyria variegate porphyria N/A N/A ClinVar
Show/Hide Text Mining Associations (55)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33879658
Alveolitis Extrinsic Allergic Associate 32501729
Berylliosis Associate 32501729
Bone Neoplasms Associate 38429095
Breast Neoplasms Associate 21695211, 21784846, 22701315, 22848474, 23261525, 25995231, 26681085
Bronchopulmonary Dysplasia Associate 35546156
Carcinogenesis Associate 25793771
Carcinoma Hepatocellular Associate 12428063, 22246506, 23483087, 31790363, 33988674, 35123420, 37166013, 37215201
Carcinoma Hepatocellular Stimulate 21849266
Carcinoma Non Small Cell Lung Associate 40282412