Table 2.
Human ABC transporter genes, and their functions, as listed in the HGNC database
Gene | Chromosome location | Exons | AA | Accession number | Function |
---|---|---|---|---|---|
ABCA1 | 9q3l.l | 36 | 2261 | NM005502 | Cholesterol efflux onto HDL |
ABCA2 | 9q34 | 27 | 2436 | NM001606 | Drug resistance |
ABCA3 | 16pl3.3 | 26 | 1704 | NM001089 | Multidrug resistance |
ABCA4 | 1p22 | 38 | 2273 | NM000350 | N-retinylidene-phosphatidylethanolamine (PE) efflux |
ABCA5 | 17q24.3 | 31 | 1642 | NM018672 | Urinary diagnostic marker for prostatic intraepithelial neoplasia (PIN) |
ABCA6 | 17q24.3 | 35 | 1617 | NM080284 | Multidrug resistance |
ABCA7 | 19p13.3 | 31 | 2146 | NM019112 | Cholesterol efflux |
ABCA8 | 17q24 | 31 | 1581 | NM007168 | Transports certain lipophilic drugs |
ABCA9 | 17q24.2 | 31 | 1624 | NM080283 | Might play a role in monocyte differentiation and macrophage lipid homeostasis |
ABCA10 | l7q24 | 27 | 1543 | NM080282 | Cholesterol-responsive gene |
ABCA12 | 2q34 | 37 | 2595 | NM173076 | Has implications for prenatal diagnosis |
ABCA13 | 7p12.3 | 36 | 5058 | NM152701 | Inherited disorder affecting the pancreas |
ABCB1 | 7q21.1 | 20 | 1280 | NM000927 | Multidrug resistance |
ABCB2 (TAPI) | 6p21.3 | 11 | 808 | NM000593 | Peptide transport |
ABCB3 (TAP2) | 6p21.3 | 11 | 703 | NM000544 | Peptide transport |
ABCB4 | 7q21.1 | 25 | 1279 | NM000443 | Phosphatidylcholine (PC) transport |
ABCB5 | 7p15.3 | 17 | 812 | NM178559 | Melanogenesis |
ABCB6 | 2q36 | 19 | 842 | NM005689 | Iron transport |
ABCB7 | Xq12-q13 | 14 | 753 | NM004299 | Fe/S cluster transport |
ABCB8 | 7q36 | 15 | 718 | NM007188 | Intracellular peptide trafficking across membranes |
ABCB9 | 12q24 | 12 | 766 | NM019625 | Located in lysosomes |
ABCB10 | 1q42.13 | 13 | 738 | NM012089 | Export of peptides derived from proteolysis of inner-membrane proteins |
ABCB11 | 2q24 | 26 | 1321 | NM003742 | Bile salt transport |
ABCC1 | 16p13.1 | 31 | 1531 | NM004996 | Drug resistance |
ABCC2 | 10q24 | 26 | 1545 | NM000392 | Organic anion efflux |
ABCC3 | 17q22 | 19 | 1527 | NM003786 | Drug resistance |
ABCC4 | 13q32 | 19 | 1325 | NM005845 | Nucleoside transport |
ABCC5 | 3q27 | 25 | 1437 | NM005688 | Nucleoside transport |
ABCC6 | 16p13.1 | 28 | 1503 | NM001171 | Expressed primarily in liver and kidney |
ABCC7 (CFTR) | 7q31.2 | 23 | 1480 | NM000492 | Chloride ion channel (same as CFTR gene in cystic fibrosis) |
ABCC8 | 11p15.1 | 30 | 1581 | NM000352 | Sulfonylurea receptor |
ABCC9 | 12p12.1 | 32 | 1549 | NM005691 | Encodes the regulatory SUR2A subunit of the cardiac K+(ATP) channel |
ABCC10 | 6p21.1 | 19 | 1464 | NM033450 | Multidrug resistance |
ABCC11 | 16q12.1 | 25 | 1382 | NM033151 | Drug resistance in breast cancer |
ABCC12 | 16q12.1 | 25 | 1359 | NM033226 | Multidrug resistance |
ABCC13 | 21q11.2 | 6 | 325 | NM00387 | Encodes a polypeptide of unknown function |
ABCD1 | Xq28 | 9 | 745 | NM000033 | Very-long-chain fatty acid (VLCFA) transport |
ABCD2 | 12q11-q12 | 10 | 740 | NM005164 | Major modifier locus for clinical diversity in X-linked ALD (X-ALD) |
ABCD3 | 1p22-p21 | 16 | 659 | NM002858 | Involved in import of fatty acids and/or fatty acyl-coenzyme As into the peroxisome |
ABCD4 | 14q24 | 19 | 606 | NM005050 | May modify the ALD phenotype |
ABCE1 | 4q31 | 14 | 599 | NM002940 | Oligoadenylate-binding protein |
ABCF1 | 6p21.33 | 19 | 845 | NM001025091 | Susceptibility to autoimmune pancreatitis |
ABCF2 | 7q36 | 14 | 634 | NM005692 | Tumour suppression at metastatic sites and in endocrine pathway for breast cancer/drug resistance |
ABCF3 | 3q27.1 | 21 | 709 | NM018358 | Also present in promastigotes (one of five forms in the life cycle of trypanosomes) |
ABCG1 | 21q22.3 | 13 | 678 | NM004915 | Cholesterol transport |
ABCG2 | 4q22 | 16 | 655 | NM004827 | Toxicant efflux, drug resistance |
ABCG4 | q23.3 | 15 | 646 | NM022 69 | Found in macrophage, eye, brain and spleen |
ABCG5 | 2p2 | 11 | 65 | NM022436 | Sterol transport |
ABCG8 | 2p2 | 10 | 673 | NM022437 | Sterol transport |
Abbreviations: HGNC, HUGO Gene Nomenclature Committee; AA, number of amino acids; HDL, high density lipoprotein; CFTR, cysticfibrosis transmembrane conductance regulator gene; ATP adenosine triphosphate; ALD, adrenoleukodystrophy.