HGNC symbol HGNC description Common name Accession Omim number Omim phenotype UCSC link Nucleotide RefSeq Protein RefSeq Gene link Isoforms
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 ABC1 NM_005502 600046 Tangier disease; High density lipoprotein deficiency, type 2; Tangier disease, variant; High density lipoprotein deficiency; Coronary heart disease in familial hypercholesterolema, protection aganist genome browser NM_005502 NP_005493 19 None
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 ABC2 NM_001606 600047   genome browser NM_001606 NP_001597 20 2
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 ABC3 U78735 601615 Surfactant deficiency, neonatal genome browser NM_001089 NP_001080 21 None
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 ABC10 AF000148,U88667 601691 Startgardt disease 1; Macular degeneratons, age-related, 2; Retinitis pigmentosa 19; Cone-rod dystrophy 3; Fundus flavimaculatus genome browser NM_000350 NP_000341 24 None
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 ABC13 AB067475,AK096664,AY028897 genome browser NM_018672 NP_061142 23461 2
ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 ABCA6 AY028898 genome browser NM_080284 NP_525023 23460 2
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 ABCX AF250238,AF328787 genome browser NM_019112 NP_061985 10347 2
ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 ABCA8 NM_007168     genome browser NM_007168 NP_009099 10351 None
ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 ABCA9 AL833712,AY028899 genome browser NM_080283 NP_525022 10350 2
ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 ABCA10 AL832004,AY028900 genome browser NM_080282 NP_525021 10349 None
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 LI2 AK096597,AY033486,AY219711 607800 Ichthyosis, lamellar 2 genome browser NM_015657 NP_056472 26154 2
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 ABCA13 AY204751 607807 genome browser NM_152701 NP_689914 154664 None
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 MDR1 AF016535, M14758 171050 Colchicine resistance, Crohn disease genome browser NM_000927 NP_000918 5243 None
ABCB2 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) TAP1 BC014081 170260 Peptide transporter psf1 polymorhpism; Tap1 deficiency, somatic genome browser NM_000593 NP_000584 6890 None
ABCB3 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) TAP2 M74447,X87344 170261 Peptide transporter psf2 polymorphism; Bare lymphocyte syndrome, type 1; Wegener-like granulomatosis genome browser NM_000544 NP_000535 6891 2
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 MDR3 M23234, Z35284 171060 Cholestasis, familial intrahepatic, of pregnancy; Cholestasis, progressive familial intrahepatic, type III; Cholelithiasis genome browser NM_000443 NP_000434 5244 3
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 ABCB5 AY234788 genome browser NM_178559 NP_848654 340273 None
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 ABC14 AF070598,AJ289233 605452 genome browser NM_005689 NP_005680 10058 None
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 ABC7 AF038950.1, AB005289.1 300135 Anemia, sideroblastic, and spinocerebellar ataxia genome browser NM_004299 NP_004290 22 None
ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 MABC1 AF047690,AK002018 605464 genome browser NM_007188 NP_009119 11194 None
ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 TAPL AB112582,AF216494,AK074738,BC064384 605453 genome browser NM_019624 NP_062570 23457 4
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 M-ABC2 AF216833 605454 genome browser NM_012089 NP_036221 23456 None
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 BSEP AF091582 603201 Progressive intrahepatic cholestasis-2 genome browser NM_003742 NP_003733 8647 None
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 MRP1 L05628, U91318 158343   genome browser NM_004996 NP_004987 4363 7
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 MRP2 U63970 601107 Dubin-Johnson syndrome genome browser NM_000392 NP_000383 1244 None
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 MRP3 AF009670, AF085690 604323   genome browser NM_003786 NP_003777 8714 3
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 MRP4 AF071202 605250   genome browser NM_005845 NP_005836 10257 None
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 MRP5 AF104942 605251   genome browser NM_005688 NP_005679 10057 None
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 MRP6 AF076622 603234 Pseudoxanthoma elasticum, autosomal dominant; Pseudoxanthoma elasticum, autosomal recessive; Pseudoxanthoma elasticum, sporadic genome browser NM_001171 NP_001162 368 None
ABCC7 cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) CFTR NM_000492 602421 cystic fibrosis genome browser NM_000492 NP_000483 1080 None
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 SUR1 NM_000352 600509 Persistent Hyperinsulinemic Hypoglycemia of Infancy; Persistent Hyperinsnulinemic Hypoglycemia of Infancy due to Focal Adenomatous Hyperplasia genome browser NM_000352 NP_000343 6833 None
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 SUR2 NM_005691 601439 cardiomyopathy, dilated with ventricular tachycardia genome browser NM_005691 NP_005682 10060 3
ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 ABCC10 NM_033450     genome browser NM_033450 NP_258261 89845 None
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 ABCC11 NM_032583 607040   genome browser NM_032583 NP_115972 85320 3
ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 MRP9 AY040220 607041 genome browser NM_033226 NP_150229 94160 5
ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 PRED6 AF418600,AY063515 608835 genome browser NM_138726 NP_620054 150000 4
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 ALD NM_000033 300371 Adrenoleukodystrophy; Addison disease; Adrenomyeloneuropathy genome browser NM_000033 NP_000024 215 None
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 ABC39 AH007710 601081 genome browser NM_005164 NP_005155 225 None
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 ABC43 M81182,X58528,X83467 170995 Zellweger syndrome 2 genome browser NM_002858 NP_002849 5825 None
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 ABC41 AF009746 603214 genome browser NM_005050 NP_005041 5826 5
ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 ABC38 X76388 601213 genome browser NM_002940 NP_002931 6059 None
ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 ABC27,ABC50 AF027302 603429 genome browser NM_001090 NP_001081 23 None
ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 ABC28 AF261091,AL050291 genome browser NM_005692 NP_005683 10061 2
ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 ABCF3 AK002060 genome browser NM_018358 NP_060828 55324 None
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 ABC8 NM_004915 603076   genome browser NM_004915 NP_004906 9619 7
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 MXR AF103796 603756   genome browser NM_004827 NP_004818 9429 None
ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 WHITE2 BC041091 607784 genome browser NM_022169 NP_071452 64137 None
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) ABCG5 NM_022436 605459 Sitosterolemia genome browser NM_022436 NP_071881 64240 None
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) ABCG8 NM_022437 605460 Sitosterolemia genome browser NM_022437 NP_071882 64241 None
ATP7A ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) ATP7A L06133 300011 Menkes disease, mild; Occipital horn syndrome; Cutis laxa, neonatal; Menkes disease; Menkes disease, copper-replacement responsive genome browser NM_000052 NP_000043 538 None
ATP7B ATPase, Cu++ transporting, beta polypeptide (Wilson disease) ATP7B U11700 606882 Wilson disease genome browser NM_000053 NP_000044 540 2
ATP8B1 ATPase, Class I, type 8B, member 1 FIC1 AF038007 602397 Cholestasis, benign recurrent intrahepatic; Cholestasis, progressive familial intrahepatic-1; Byler disease genome browser NM_005603 NP_005594 5205 None
NR1I2 nuclear receptor subfamily 1, group I, member 2 (isoform 1) PXR AJ009936 603065   genome browser NM_003889 NP_003880 8856 3
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 EAAC1 NM_004170 133550   genome browser NM_004170 NP_004161 6505 None
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 EAAT2 NM_004171 600300 Amyotryphic lateral sclerosis genome browser NM_004171 NP_004162 6506 None
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 EAAT1 NM_004172 600111   genome browser NM_004172 NP_004163 6507 None
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 SATT BC026216 600229 genome browser NM_003038 NP_003029 6509 None
SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 ASCT2 AF105423 109190 genome browser NM_005628 NP_005619 6510 None
SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 EAAT4 NM_005071 600637   genome browser NM_005071 NP_005062 6511 None
SLC1A7 solute carrier family 1 (glutamate transporter), member 7 AAAT BC017242 604471 genome browser NM_006671 NP_006662 6512 None
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 GLUT K03195 138140 Glucose transport defect, blood-brain barrier genome browser NM_006516 NP_006507 6513 None
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 GLUT2 AH002747,J03810 138160 Diabetes mellitus, noninsulin-dependent; Fanconi-bickel syndrome genome browser NM_000340 NP_000331 6514 None
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 GLUT3 M20681 138170 genome browser NM_006931 NP_008862 6515 None
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 GLUT4 M20747 138190 Diabetes mellitus, noninsulin-dependent genome browser NM_001042 NP_001033 6517 None
SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 GLUT5 M55531 138230 genome browser NM_003039 NP_003030 6518 None
SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6 GLUT6 AJ011372 606813 genome browser NM_017585 NP_060055 11182 None
SLC2A7 solute carrier family 2 (facilitated glucose transporter), member 7 GLUT7 AY571960 genome browser NM_207420 NP_997303 155184 None
SLC2A8 solute carrier family 2, (facilitated glucose transporter) member 8 GLUT8 BC019043 605245 genome browser NM_014580 NP_055395 29988 None
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 GLUT9 AL572022,BC018897,CD629822 606142 genome browser NM_001001290 NP_001001290 56606 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 GLUT10 AF248053,AF321240 606145 genome browser NM_030777 NP_110404 81031 None
SLC2A11 solute carrier family 2 (facilitated glucose transporter), member 11 GLUT11 AF443201 genome browser NM_030807 NP_110434 66035 None
SLC2A12 solute carrier family 2 (facilitated glucose transporter), member 12 GLUT12 AY046419 genome browser NM_145176 NP_660159 154091 None
SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 HMIT AJ315644 genome browser NM_052885 NP_443117 114134 None
SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14 GLUT14 AF481879 genome browser NM_153449 NP_703150 144195 None
SLC3A1 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 ATR1 NM_000341 104614 Cystinuria genome browser NM_000341 NP_000332 6519 None
SLC3A2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 4F2 NM_002394 158070   genome browser NM_002394 NP_002385 6520 None
SLC4A1 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) CD233 M27819 109270 Band 3 memphis; Ovalocytosis, southeast asian; Spherocytosis, hereditarty, due to band 3 tuscaloosa; Hemolytic anemia due to band 3 montefiore; Spherocytosis, hereditary, due to band 3 pargue; Spherocytosis, hereditary, due to band 3 chur; Spherocytosis, genome browser NM_000342 NP_000333 6521 None
SLC4A2 solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) AE2 U62531 109280 genome browser NM_003040 NP_003031 6522 None
SLC4A3 solute carrier family 4, anion exchanger, member 3 AE3 U05596 106195 genome browser NM_005070 NP_00506 6508 2
SLC4A4 solute carrier family 4, sodium bicarbonate cotransporter, member 4 KNBC AF007216 603345 Renal tubular acidosis, proximal, with ocular abnormalities genome browser NM_003759 NP_003750 8671 None
SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5 NBC4 AF243499 606757 genome browser NM_021196 NP_067019 57835 4
SLC4A6 solute carrier family 4, sodium bicarbonate cotransporter, member 7 NBC2,SLC4A6 AF047033 603353 genome browser NM_003615 NP_003606 9497 None
SLC4A8 solute carrier family 4, sodium bicarbonate cotransporter, member 8 NBC3 AF069512 605024 genome browser NM_004858 NP_004849 9498 None
SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 AE4 AF336237 genome browser NM_031467 NP_113655 83697 None
SLC4A10 solute carrier family 4, sodium bicarbonate transporter-like, member 10 SLC4A10 AB040457 605556 genome browser NM_022058 NP_071341 57282 None
SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11 BTR1 AF336127 genome browser NM_032034 NP_114423 83959 None
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 SGLT1 M24847 182380 Glucose/galactose malabsorption genome browser NM_000343 NP_000334 6523 None
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 SGLT2 M95549 182381 Renal glucosuria genome browser NM_003041 NP_003032 6524 None
SLC5A3 solute carrier family 5 (inositol transporters), member 3 SMIT L38500 600444 genome browser NM_006933 NP_008864 6526 None