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

Gene

• Entrez ID: 10058
• Gene name: ATP binding cassette subfamily B member 6 (LAN blood group)
• Gene symbol: ABCB6
• Synonyms (NCBI Gene): ABC, LAN, MTABC3, PRP, umat
• Chromosome: 2
• Chromosome location: 2q35
• Summary: 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 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
rs387906909	AG>-	Affects	Coding sequence variant, frameshift variant
rs387906911	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514756	A>G	Pathogenic	Coding sequence variant, missense variant
rs397514757	T>C	Pathogenic	Coding sequence variant, missense variant
rs397514758	C>T	Pathogenic	Coding sequence variant, missense variant
rs754667801	C>T	Pathogenic	Missense variant, coding sequence variant
rs764893806	G>A	Pathogenic	Coding sequence variant, missense variant
rs765925019	GATCCGC>-,GATCCGCGATCCGC	Affects	Frameshift variant, coding sequence variant
rs796065353	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs879255549	C>T	Affects	Splice acceptor variant
rs1559234527	A>C	Affects	Splice donor variant

miRNA

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
MIRT1923591	hsa-miR-3926	CLIP-seq
MIRT1923592	hsa-miR-3938	CLIP-seq
MIRT1923593	hsa-miR-4795-5p	CLIP-seq
MIRT1923594	hsa-miR-548s	CLIP-seq
MIRT1923595	hsa-miR-642b	CLIP-seq
MIRT2165065	hsa-miR-29a	CLIP-seq
MIRT2165066	hsa-miR-29b	CLIP-seq
MIRT2165067	hsa-miR-29c	CLIP-seq
MIRT2165068	hsa-miR-3153	CLIP-seq
MIRT2165069	hsa-miR-4428	CLIP-seq
MIRT2165070	hsa-miR-621	CLIP-seq
MIRT1923595	hsa-miR-642b	CLIP-seq
MIRT2165071	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	18279659, 22655043
GO:0005739	Component	Mitochondrion	IDA	10837493
GO:0005739	Component	Mitochondrion	IMP	23792964
GO:0005740	Component	Mitochondrial envelope	IDA	10837493
GO:0005741	Component	Mitochondrial outer membrane	IDA	17006453, 17661442
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	22655043, 25627919, 29940187, 31053883
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005774	Component	Vacuolar membrane	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	22226084
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	21199866
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	18279659, 21199866, 22226084
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	17661442, 22655043, 25627919, 27507172
GO:0005886	Component	Plasma membrane	IEA
GO:0006778	Process	Porphyrin-containing compound metabolic process	IDA	27507172
GO:0006778	Process	Porphyrin-containing compound metabolic process	IEA
GO:0006778	Process	Porphyrin-containing compound metabolic process	IMP	33007128
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IDA	17006453
GO:0006785	Process	Heme B biosynthetic process	IMP	22655043
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	ISS
GO:0006879	Process	Intracellular iron ion homeostasis	NAS	11977179
GO:0007420	Process	Brain development	IMP	22100072
GO:0010008	Component	Endosome membrane	IEA
GO:0015232	Function	Heme transmembrane transporter activity	IEA
GO:0015439	Function	ABC-type heme transporter activity	IBA
GO:0015439	Function	ABC-type heme transporter activity	IEA
GO:0015439	Function	ABC-type heme transporter activity	IMP	17006453
GO:0015439	Function	ABC-type heme transporter activity	TAS
GO:0015562	Function	Efflux transmembrane transporter activity	IDA	17661442
GO:0015886	Process	Heme transport	IBA
GO:0015886	Process	Heme transport	IDA	17661442
GO:0015886	Process	Heme transport	IMP	17006453
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	33007128
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	17006453, 33007128
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0031902	Component	Late endosome membrane	IEA
GO:0032585	Component	Multivesicular body membrane	IDA	25627919
GO:0032585	Component	Multivesicular body membrane	IEA
GO:0033013	Process	Tetrapyrrole metabolic process	IMP	23792964
GO:0033162	Component	Melanosome membrane	IDA	29940187
GO:0033162	Component	Melanosome membrane	IEA
GO:0034755	Process	Iron ion transmembrane transport	IEA
GO:0035351	Process	Heme transmembrane transport	IDA	33007128
GO:0036020	Component	Endolysosome membrane	IDA	25627919, 31053883
GO:0036020	Component	Endolysosome membrane	IEA
GO:0042168	Process	Heme metabolic process	IDA	33007128
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	NAS	11955620
GO:0043588	Process	Skin development	IMP	22100072
GO:0046906	Function	Tetrapyrrole binding	IDA	17006453, 23792964
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IDA	22655043
GO:0070062	Component	Extracellular exosome	IEA
GO:0098849	Process	Cellular detoxification of cadmium ion	IDA	31053883
GO:0140359	Function	ABC-type transporter activity	IDA	27507172
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	IMP	23792964
GO:0140359	Function	ABC-type transporter activity	ISS
GO:1903232	Process	Melanosome assembly	IDA	29940187

Other IDs

• MIM: 605452
• HGNC: 47
• e!Ensembl: ENSG00000115657

Protein

• 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Dyschromatosis universalis hereditaria 3	Pathogenic; Likely pathogenic	rs796065353, rs764893806, rs201100181, rs397514756, rs397514757, rs397514758	RCV000190414 RCV002500635 RCV003991334 RCV000054816 RCV000054817 RCV000054818
Familial pseudohyperkalemia	Pathogenic; Likely pathogenic	rs754667801, rs764893806	RCV000202403 RCV000202404
Langereis blood group	Likely pathogenic	rs764893806	RCV002500635
Microphthalmia, isolated, with coloboma 7	Likely pathogenic	rs764893806	RCV002500635

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ABCB6-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs377591749, rs60322991, rs147445258, rs113242206, rs149202834, rs148211042, rs773484755, rs145498806, rs2544852935, rs1460638206, rs1190925995, rs770921703, rs368745056, rs61733629, rs111852229, rs146410593, rs150221689, rs141840760	RCV003981052 RCV003921264 RCV003913358 RCV003950917 RCV004751364 RCV004751365 RCV003412101 RCV003419160 RCV003412347 RCV003397381 RCV003394364 RCV004750906 RCV003927398 RCV003970713 RCV003923295 RCV003943138 RCV003974948 RCV003393945
Acute intermittent porphyria	Benign; Likely benign; Conflicting classifications of pathogenicity	rs60322991, rs145526996, rs147445258, rs541845688, rs149202834, rs57467915, rs149363094, rs190528998, rs150221689	RCV001732221 RCV001732228 RCV001733861 RCV001733864 RCV001731431 RCV001731453 RCV001731737 RCV001731987 RCV001731357
Acute myeloid leukemia	Benign; Likely benign	rs149363094	RCV005901010
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs149363094	RCV005901011
Clear cell carcinoma of kidney	Benign; Likely benign	rs149363094	RCV005901012
Colorectal cancer	Benign; Likely benign	rs149363094	RCV005901014
Hereditary coproporphyria	Conflicting classifications of pathogenicity; Benign; Likely benign	rs145526996, rs147445258, rs149202834, rs57467915, rs149363094	RCV001732230 RCV001733863 RCV001731433 RCV001731454 RCV001731739
Lung cancer	Benign; Likely benign	rs149363094	RCV005901019
Malignant tumor of urinary bladder	Likely benign	rs111852229	RCV005903095
Melanoma	Benign; Likely benign	rs149363094	RCV005901018
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs149363094	RCV005901015
Protoporphyria, erythropoietic, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	rs60322991, rs145526996, rs147445258, rs149202834, rs57467915, rs149363094, rs190528998, rs150221689	RCV001732220 RCV001732227 RCV001733860 RCV001731521 RCV001731534 RCV001731736 RCV001731986 RCV001731356
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs149363094	RCV005901017
Uterine carcinosarcoma	Benign; Likely benign	rs149363094	RCV005901016
Uveal melanoma	Benign; Likely benign	rs149363094	RCV005901013
Variegate porphyria	Conflicting classifications of pathogenicity; Benign; Likely benign	rs145526996, rs147445258, rs149202834, rs57467915, rs149363094, rs150221689	RCV001732229 RCV001733862 RCV001731432 RCV001731535 RCV001731738 RCV001731358

Associations from Text Mining
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
Carcinoma Pancreatic Ductal	Associate	31622355
Cataract	Associate	33923544
Cognition Disorders	Associate	37211381
Coloboma	Associate	24281366
Colorectal Neoplasms	Associate	32559325
Crohn Disease	Associate	36466876
Cystic Fibrosis	Associate	20861014, 26092729
Diabetes Mellitus Type 2	Associate	32762489
Disease Resistance	Associate	22701315
Drug Related Side Effects and Adverse Reactions	Associate	23095522, 25300205
Dyschromatosis universalis hereditaria	Associate	23519333, 24224009, 26712430, 32174800, 34174894
Fatty Liver	Associate	21849266
Fibrosis	Stimulate	21849266
Fragile X Syndrome	Associate	25129200
HIV Infections	Associate	29132227
Ichthyosis Lamellar	Associate	16902423
Inflammation	Associate	32229586
Intrahepatic Cholestasis of Pregnancy	Stimulate	23483087
Intrahepatic Cholestasis of Pregnancy	Associate	33546617
Leukemia	Associate	25095896
Leukemia Lymphocytic Chronic B Cell	Associate	33171493
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	32229586
Leukemia Myeloid Acute	Associate	23095522
Liver Diseases	Associate	12428063, 21849266
Lung Diseases	Associate	32501729
Lymphoma Large B Cell Diffuse	Associate	17179223, 24190977, 34739844
Lymphoma Non Hodgkin	Associate	19209238
Melanoma	Associate	19147539, 25300205, 35461746
Microphthalmos	Associate	24281366
Myositis Inclusion Body	Associate	17056255
Neoplasms	Associate	10438534, 19147539, 22848474, 27857072, 31905792, 34299347, 34739844, 35627114, 37166013, 38429095
Neoplasms	Stimulate	21849266
Neoplasms	Inhibit	37215201
Non alcoholic Fatty Liver Disease	Associate	21878559
Osteosarcoma	Associate	33952718
Pigmentation Disorders	Associate	23519333, 35461746
Pre Eclampsia	Associate	35124425
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	38039756
Pseudohyperkalemia Familial 2 due to Red Cell Leak	Associate	23180570, 27151991
Pseudoxanthoma Elasticum	Associate	10811882, 21371928
Sarcoidosis	Associate	32501729
Skin Diseases	Associate	16902423, 26712430
Stargardt Disease	Associate	26092729
Triple Negative Breast Neoplasms	Associate	36674773
Tuberculosis Multidrug Resistant	Associate	24726739, 29387293, 31117741, 32229586, 36430819, 40362377