1189:
EXT family genes, although not to the same extent. This increases the likelihood that a cartilage cell will be placed incorrectly, as heparan sulfate is a bone and cartilage tumor suppressor. Since bone has a very specific structure, misplacing a cartilage cell in early growth is comparable to misplacement of a brick early on in construction of a wall. Misplacement in cartilage will result in cartilage tumor or tumors at the growth plates of long bones. This condition is known as hereditary multiple exostoses (HME) or hereditary multiple osteochondromas (HMO). HME can also be the result of a mutation to the EXT1 gene or other EXT family genes. EXT1 mutations tend to be more severe with more exostoses and are the cause of 56-78% of human HME cases, except for in China where mutations of the EXT2 gene are more common. HME effects 1 in 50,000 people and is more commonly seen in males in a 1.5:1 ratio.
242:
219:
141:
116:
500:
493:
248:
147:
3501:
1188:
Mutations that change the amino acid sequence of the exostosin glycosyltransferase-2 protein can lead to it becoming unfunctional. When this protein is unfunctional it causes the heparan sulfate chains to become shorter. The chains are still formed and extended by the other proteins encoded by the
1223:
form, this means that they have one EXT2 gene that is normal and one that is mutated. For the inheritance of this gene mutation, for a mutated parent and a not mutated parent there is a 50% chance that the offspring will also have an EXT2 mutation. For two parents with the EXT2 mutation, of their
1151:
of long bones and is placed in a specific pattern before it is later ossified into bone when it grows further away from the growth plate. New cartilage in a growing bone is placed through signaling proteins which bind to the heparan sulfate chains. EXT2 (protein) has also been shown to
1160:, a heat shock protein. Heat shock proteins will bind to specific proteins to help them keep their shape when the cell is stressed. TRAP1 has been found to bind to a region (in the c-terminal end) of EXT1 and EXT2 proteins to help it keep its desired shape and function.
1210:
stage of development. Reasons for why this happens is that heparan sulfate has more roles than just bone formation, it also plays a role in embryonic development. Heparan sulfate can bind signaling molecules used in development such as
1205:
form. This means that if the mutated gene is inherited from both parents giving the offspring two copies of the mutated gene (the homozygous form of the mutant gene) this will result in early embryonic death in the
1318:
Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den
Ouweland AM, Niermeijer MF, et al. (January 1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11".
255:
154:
2501:
Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, et al. (February 2001). "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes".
1143:
present in the extracellular matrix of most tissue types. There is a lot about its function that is not entirely understood, however it is known that they have an important role for bone and
2392:
Kobayashi S, Morimoto K, Shimizu T, Takahashi M, Kurosawa H, Shirasawa T (February 2000). "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus".
2168:
McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F (June 1998). "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate".
1967:
Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, et al. (September 1996). "The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes".
1356:"Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas"
2693:
2688:
1115:
The EXT2 gene is located on chromosome 11 in the human genome, its location is on the p arm of this chromosome. The p arm of a chromosome is the shorter arm of a chromosome.
3267:
3066:
2942:
2733:
2341:"The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate"
783:
764:
77:
3210:
3115:
3047:
2564:
3260:
1300:
1282:
3224:
1372:
1355:
3194:
2434:
1908:
1023:
2869:
2864:
2275:
Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, et al. (1999). "Mutation analysis of hereditary multiple exostoses in the
Chinese".
3015:
1030:
3253:
2590:
1767:
3570:
2924:
2919:
1406:
2476:
2459:
3546:
3229:
3565:
2514:
2421:
Shi YR, Wu JY, Tsai FJ, Lee CC, Tsai CH (April 2000). "An R223P mutation in EXT2 gene causes hereditary multiple exostoses".
1265:
1168:
This gene was found to be present in many species other than humans such as mice, chickens, dogs, cows and many more. Other
2041:"The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans"
1652:
Simmons, Andrew D.; Musy, Maurice M.; Lopes, Carla S.; Hwang, Larn-Yuan; Yang, Ya-Ping; Lovett, Michael (1 November 1999).
1244:
1139:. The proteins formed by these genes work together to form and extend heparan sulfate chains. Heparan sulfate chains are
2207:"The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate"
2557:
3110:
241:
3120:
2306:"A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses"
1654:"A Direct Interaction Between EXT Proteins and Glycosyltransferases is Defective in Hereditary Multiple Exostoses"
1564:"A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses"
3442:
3319:
3141:
1269:
1248:
218:
1212:
3245:
3125:
828:
3432:
2550:
1104:
140:
115:
809:
2660:
1515:"Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses"
57:
1895:
Wuyts W, Van Hul W (2000). "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes".
3456:
2645:
1153:
3539:
3085:
1932:
Wuyts W, Ramlakhan S, Van Hul W, Hecht JT, van den
Ouweland AM, Raskind WH, et al. (August 1995).
254:
153:
3469:
3102:
2650:
2242:"Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses"
2125:
Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, et al. (February 1998).
247:
146:
44:
2655:
2628:
2581:
1006:
1002:
973:
943:
939:
914:
910:
902:
65:
3314:
3282:
3145:
2708:
1173:
998:
977:
969:
935:
906:
898:
2623:
2004:
Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, et al. (October 1996).
1177:
577:
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
2542:
2084:"Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses"
1726:
Busse M, Feta A, Presto J, Wilén M, Grønning M, Kjellén L, Kusche-Gullberg M (November 2007).
1701:
1472:
Busse M, Feta A, Presto J, Wilén M, Grønning M, Kjellén L, Kusche-Gullberg M (November 2007).
3532:
3395:
3189:
2675:
2665:
1513:
Huegel J, Sgariglia F, Enomoto-Iwamoto M, Koyama E, Dormans JP, Pacifici M (September 2013).
129:
659:
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
3309:
3057:
2884:
2618:
2352:
1446:
1099:
This gene encodes one of two glycosyltransferases involved in the chain elongation step of
85:
8:
3410:
3353:
3019:
2934:
2832:
2605:
2577:
2460:"EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis"
2356:
3474:
3437:
3324:
3172:
2856:
2594:
2489:
2446:
2193:
2151:
2126:
2108:
2083:
1992:
1950:
1934:"Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11"
1933:
1920:
1868:
1843:
1819:
1794:
1539:
1514:
1385:
89:
2065:
2040:
698:
693:
688:
683:
678:
673:
668:
663:
658:
642:
637:
632:
627:
622:
617:
612:
607:
591:
586:
581:
576:
571:
566:
561:
556:
551:
546:
541:
3520:
3373:
3300:
3214:
2640:
2518:
2481:
2438:
2409:
2380:
2375:
2340:
2327:
2292:
2263:
2228:
2185:
2156:
2113:
2082:
Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP (September 1997).
2070:
2027:
1984:
1955:
1912:
1873:
1824:
1749:
1683:
1675:
1634:
1626:
1585:
1544:
1495:
1377:
1336:
37:
2493:
2450:
2197:
1996:
1924:
1389:
3452:
3329:
3052:
3039:
2683:
2633:
2510:
2471:
2430:
2401:
2370:
2360:
2317:
2284:
2253:
2218:
2177:
2146:
2138:
2103:
2095:
2060:
2052:
2017:
1976:
1945:
1904:
1863:
1855:
1814:
1806:
1795:"Novel mutation of EXT2 identified in a large family with multiple osteochondromas"
1739:
1665:
1616:
1575:
1534:
1526:
1485:
1421:"EXT2 exostosin glycosyltransferase 2 [Homo sapiens (human)] - Gene - NCBI"
1367:
1328:
334:
265:
209:
164:
69:
3464:
3387:
3383:
3336:
3071:
1621:
1604:
1100:
309:
93:
3275:
1305:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1287:
National Center for
Biotechnology Information, U.S. National Library of Medicine
3516:
2345:
Proceedings of the
National Academy of Sciences of the United States of America
410:
3559:
3512:
3076:
2613:
2223:
2206:
1679:
1630:
1373:
10.1002/(SICI)1097-0142(19980501)82:9<1657::AID-CNCR10>3.0.CO;2-3
1148:
1140:
528:
499:
492:
2322:
2305:
2304:
Simmons AD, Musy MM, Lopes CS, Hwang LY, Yang YP, Lovett M (November 1999).
2022:
2005:
1670:
1653:
1580:
1563:
1562:
Simmons AD, Musy MM, Lopes CS, Hwang LY, Yang YP, Lovett M (November 1999).
470:
348:
3414:
3287:
2522:
2485:
2442:
2413:
2405:
2384:
2331:
2296:
2267:
1916:
1877:
1828:
1753:
1744:
1728:"Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation"
1727:
1687:
1638:
1603:
Bakthisaran, Raman; Tangirala, Ramakrishna; Rao, Ch. Mohan (1 April 2015).
1589:
1548:
1499:
1490:
1474:"Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation"
1473:
1220:
1216:
327:
106:
2435:
10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E
2365:
2288:
2258:
2241:
2232:
2189:
2160:
2117:
2074:
2031:
1988:
1959:
1810:
1381:
1340:
1332:
1070:
1065:
3400:
2573:
1909:
10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K
1420:
873:
854:
567:
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
2006:"Positional cloning of a gene involved in hereditary multiple exostoses"
3278:
2477:
10.1002/1097-0177(200007)218:3<452::AID-DVDY1000>3.0.CO;2-P
2127:"Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses"
2056:
1530:
1202:
226:
123:
73:
2240:
Park KJ, Shin KH, Ku JL, Cho TJ, Lee SH, Choi IH, et al. (1999).
1980:
1859:
1605:"Small heat shock proteins: Role in cellular functions and pathology"
1198:
1169:
1144:
728:
293:
280:
192:
179:
81:
2515:
10.1002/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3
2205:
Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K (October 1998).
1512:
2537:
2142:
2099:
1844:"Mice deficient in Ext2 lack heparan sulfate and develop exostoses"
1768:"Osteochondroma : Bone Tumor Cancer : Tumors of the bone"
1207:
1054:
3234:
3092:
2825:
2820:
2815:
2810:
2805:
2773:
2697:
2391:
1086:
840:
795:
713:
709:
2181:
2167:
1842:
Stickens D, Zak BM, Rougier N, Esko JD, Werb Z (November 2005).
61:
3427:
3363:
3358:
3290:
3030:
2800:
2795:
2790:
2785:
2780:
2768:
2763:
2758:
2753:
2748:
2743:
2738:
2726:
2721:
2716:
2694:
Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase
2689:
B-N-acetylglucosaminyl-glycopeptide b-1,4-galactosyltransferase
2572:
1103:
biosynthesis. Mutations in this gene cause the type II form of
1038:
750:
508:
2124:
3182:
3177:
3150:
3001:
2952:
2947:
1609:
Biochimica et
Biophysica Acta (BBA) - Proteins and Proteomics
1354:
Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR (May 1998).
1157:
1136:
1132:
1128:
2339:
McCormick C, Duncan G, Goutsos KT, Tufaro F (January 2000).
2338:
3508:
3500:
3478:
3422:
3341:
2996:
2991:
2986:
2981:
2976:
2971:
2964:
2959:
2914:
2909:
2904:
2899:
2894:
2889:
2879:
2874:
2846:
2841:
2836:
2003:
1124:
1093:
2204:
2081:
1931:
1317:
1966:
1793:
Chen XJ, Zhang H, Tan ZP, Hu W, Yang YF (November 2016).
1353:
547:
heparan sulfate N-acetylglucosaminyltransferase activity
317:
1602:
1219:. The only individuals with this mutation exist in the
2943:
Dolichyl-phosphate-mannose-protein mannosyltransferase
2038:
1841:
2303:
2039:
Clines GA, Ashley JA, Shah S, Lovett M (April 1997).
1651:
1561:
1447:"How do geneticists indicate the location of a gene?"
482:
2500:
1725:
1471:
1224:
living offspring 2 out of 3 will have the mutation.
2394:
2457:
1261:
1259:
1257:
1240:
1238:
1236:
2538:Multiple Hereditary Exostoses Research Foundation
679:heparan sulfate proteoglycan biosynthetic process
264:
163:
3557:
1774:. (3) Sarcoma Surgeon and Orthopedic Oncologist
1254:
1233:
16:Protein-coding gene in the species Homo sapiens
3116:Hypoxanthine-guanine phosphoribosyltransferase
2274:
1792:
1266:GRCm38: Ensembl release 89: ENSMUSG00000027198
3540:
3382:
3261:
2558:
2239:
48:, SOTV, SSMS, exostosin glycosyltransferase 2
3225:Beta-galactoside alpha-2,6-sialyltransferase
2420:
1894:
1555:
1192:
694:cellular polysaccharide biosynthetic process
3195:Indolylacetylinositol arabinosyltransferase
2458:Stickens D, Brown D, Evans GA (July 2000).
1245:GRCh38: Ensembl release 89: ENSG00000151348
628:UDP-N-acetylglucosamine transferase complex
3547:
3533:
3268:
3254:
2565:
2551:
1407:"Entrez Gene: EXT2 exostoses (multiple) 2"
1347:
1311:
2475:
2374:
2364:
2321:
2257:
2222:
2150:
2107:
2064:
2021:
1949:
1867:
1818:
1743:
1669:
1620:
1579:
1538:
1489:
1371:
1401:
1399:
1163:
1147:formation. Cartilage is located at the
3558:
3230:Monosialoganglioside sialyltransferase
3067:NAD(P):arginine ADP-ribosyltransferase
3048:NAD:diphthamide ADP-ribosyltransferase
1201:(not sex-linked) and is lethal in the
689:glycosaminoglycan biosynthetic process
552:acetylglucosaminyltransferase activity
3249:
3029:
2546:
1396:
1123:Included in the EXT family are EXT2,
269:
230:
225:
168:
127:
122:
3495:
2211:The Journal of Biological Chemistry
1732:The Journal of Biological Chemistry
1478:The Journal of Biological Chemistry
1413:
1105:Hereditary Multiple Exostoses (HME)
587:protein heterodimerization activity
13:
2503:Cell Motility and the Cytoskeleton
2131:American Journal of Human Genetics
2088:American Journal of Human Genetics
1938:American Journal of Human Genetics
1887:
14:
3582:
3111:Adenine phosphoribosyltransferase
2531:
1197:EXT2 gene mutations are dominant
1089:that in humans is encoded by the
557:protein homodimerization activity
3499:
3121:Uracil phosphoribosyltransferase
1110:
572:glucuronosyltransferase activity
498:
491:
253:
246:
240:
217:
152:
145:
139:
114:
3443:N-acetylglucosamine-6-sulfatase
3142:Purine nucleoside phosphorylase
1835:
1786:
1760:
1719:
1694:
1645:
1596:
1506:
1465:
1118:
1083:Exostosin glycosyltransferase-2
3571:Human chromosome 11 gene stubs
3126:Amidophosphoribosyltransferase
1439:
1293:
1275:
613:endoplasmic reticulum membrane
608:integral component of membrane
509:More reference expression data
471:More reference expression data
1:
3433:Alpha-N-acetylglucosaminidase
1227:
433:vestibular sensory epithelium
238:
137:
3566:Genes on human chromosome 11
3519:. You can help Knowledge by
3320:UDP-glucuronate 5'-epimerase
2661:Ceramide glucosyltransferase
1622:10.1016/j.bbapap.2014.12.019
1453:. NIH US Library of Medicine
1213:transforming growth factor β
1183:
562:glycosyltransferase activity
7:
359:stromal cell of endometrium
10:
3587:
3494:
3086:Poly ADP ribose polymerase
1799:Molecular Medicine Reports
1172:have been found including
3470:Galactosamine-6 sulfatase
3451:
3409:
3372:
3299:
3209:
3165:
3134:
3103:Phosphoribosyltransferase
3101:
3038:
3014:
2933:
2855:
2707:
2674:
2604:
2589:
2246:Journal of Human Genetics
1301:"Mouse PubMed Reference:"
1283:"Human PubMed Reference:"
1193:Heredity of the EXT2 Gene
1069:
1064:
1060:
1053:
1037:
1018:
995:
991:
966:
962:
955:
932:
928:
895:
891:
884:
871:
867:
852:
848:
839:
826:
822:
807:
803:
794:
781:
777:
762:
758:
749:
734:
727:
723:
707:
527:
523:
506:
490:
481:
468:
417:
408:
395:Descending thoracic aorta
355:
346:
316:
308:
304:
287:
274:
237:
216:
207:
203:
186:
173:
136:
113:
104:
100:
55:
52:
42:
35:
30:
26:
21:
2656:1,3-Beta-glucan synthase
2310:Human Molecular Genetics
2224:10.1074/jbc.273.41.26265
2010:Human Molecular Genetics
1658:Human Molecular Genetics
1568:Human Molecular Genetics
1321:Human Molecular Genetics
3315:L-gulonolactone oxidase
3283:carbohydrate metabolism
3146:Thymidine phosphorylase
1451:Genetics Home Reference
1174:Drosophila melanogaster
1031:Chr 2: 93.49 – 93.65 Mb
1024:Chr 11: 44.1 – 44.25 Mb
3040:ADP-ribosyltransferase
2464:Developmental Dynamics
2406:10.1006/bbrc.2000.2219
1745:10.1074/jbc.M703560200
1519:Developmental Dynamics
1491:10.1074/jbc.M703560200
1178:Caenorhabditis elegans
3396:Iduronate-2-sulfatase
3190:Arabinosyltransferase
2666:N-glycosyltransferase
2366:10.1073/pnas.97.2.668
2323:10.1093/hmg/8.12.2155
2289:10.1007/s004390051062
2259:10.1007/s100380050149
2023:10.1093/hmg/5.10.1547
1811:10.3892/mmr.2016.5814
1671:10.1093/hmg/8.12.2155
1581:10.1093/hmg/8.12.2155
684:protein glycosylation
638:extracellular exosome
633:endoplasmic reticulum
387:right coronary artery
130:Chromosome 11 (human)
3310:L-xylulose reductase
3058:Pseudomonas exotoxin
2578:glycosyltransferases
1772:www.tumorsurgery.org
1425:www.ncbi.nlm.nih.gov
1164:Species Distribution
664:cell differentiation
542:transferase activity
367:smooth muscle tissue
271:2 E1|2 51.62 cM
232:Chromosome 2 (mouse)
3428:N-acetyltransferase
3423:Heparan sulfamidase
3354:Chondroitin sulfate
2833:Hyaluronan synthase
2357:2000PNAS...97..668M
1333:10.1093/hmg/3.1.167
1215:, Fgf proteins and
699:signal transduction
375:islet of Langerhans
3507:This article on a
3475:Beta-galactosidase
3325:Xylosyltransferase
3173:Xylosyltransferase
2646:Debranching enzyme
2057:10.1101/gr.7.4.359
1531:10.1002/dvdy.24010
829:ENSMUSG00000027198
674:mesoderm formation
652:Biological process
601:Cellular component
535:Molecular function
3528:
3527:
3492:
3491:
3488:
3487:
3374:glycosaminoglycan
3301:glycosaminoglycan
3243:
3242:
3205:
3204:
3161:
3160:
3010:
3009:
2641:Glycogen synthase
1981:10.1038/ng0996-25
1860:10.1242/dev.02088
1664:(12): 2155–2164.
1080:
1079:
1076:
1075:
1049:
1048:
1014:
1013:
985:
984:
951:
950:
922:
921:
880:
879:
861:
860:
835:
834:
816:
815:
790:
789:
771:
770:
719:
718:
582:metal ion binding
519:
518:
515:
514:
477:
476:
464:
463:
402:
401:
300:
299:
199:
198:
3578:
3549:
3542:
3535:
3503:
3496:
3380:
3379:
3330:Sulfotransferase
3270:
3263:
3256:
3247:
3246:
3053:Diphtheria toxin
3036:
3035:
3027:
3026:
2684:Lactose synthase
2651:Branching enzyme
2602:
2601:
2567:
2560:
2553:
2544:
2543:
2526:
2497:
2479:
2454:
2417:
2388:
2378:
2368:
2335:
2325:
2300:
2271:
2261:
2236:
2226:
2201:
2164:
2154:
2121:
2111:
2078:
2068:
2035:
2025:
2000:
1963:
1953:
1928:
1882:
1881:
1871:
1839:
1833:
1832:
1822:
1805:(5): 4687–4691.
1790:
1784:
1783:
1781:
1779:
1764:
1758:
1757:
1747:
1738:(45): 32802–10.
1723:
1717:
1716:
1714:
1712:
1702:"EXT2 orthologs"
1698:
1692:
1691:
1673:
1649:
1643:
1642:
1624:
1600:
1594:
1593:
1583:
1559:
1553:
1552:
1542:
1510:
1504:
1503:
1493:
1484:(45): 32802–10.
1469:
1463:
1462:
1460:
1458:
1443:
1437:
1436:
1434:
1432:
1417:
1411:
1410:
1403:
1394:
1393:
1375:
1351:
1345:
1344:
1315:
1309:
1308:
1297:
1291:
1290:
1279:
1273:
1263:
1252:
1242:
1062:
1061:
1033:
1026:
1009:
989:
988:
980:
960:
959:
956:RefSeq (protein)
946:
926:
925:
917:
889:
888:
865:
864:
846:
845:
820:
819:
801:
800:
775:
774:
756:
755:
725:
724:
525:
524:
511:
502:
495:
488:
487:
473:
441:genital tubercle
413:
411:Top expressed in
406:
405:
363:cartilage tissue
351:
349:Top expressed in
344:
343:
323:
322:
306:
305:
296:
283:
272:
257:
250:
244:
233:
221:
205:
204:
195:
182:
171:
156:
149:
143:
132:
118:
102:
101:
96:
94:EXT2 - orthologs
47:
40:
19:
18:
3586:
3585:
3581:
3580:
3579:
3577:
3576:
3575:
3556:
3555:
3554:
3553:
3493:
3484:
3465:Arylsulfatase B
3447:
3405:
3368:
3337:Heparan sulfate
3295:
3274:
3244:
3239:
3216:
3201:
3157:
3130:
3097:
3072:Pertussis toxin
3021:
3006:
2929:
2851:
2703:
2670:
2596:
2585:
2571:
2534:
2529:
2316:(12): 2155–64.
2217:(41): 26265–8.
2170:Nature Genetics
2045:Genome Research
2016:(10): 1547–57.
1969:Nature Genetics
1890:
1888:Further reading
1885:
1854:(22): 5055–68.
1840:
1836:
1791:
1787:
1777:
1775:
1766:
1765:
1761:
1724:
1720:
1710:
1708:
1700:
1699:
1695:
1650:
1646:
1601:
1597:
1574:(12): 2155–64.
1560:
1556:
1511:
1507:
1470:
1466:
1456:
1454:
1445:
1444:
1440:
1430:
1428:
1419:
1418:
1414:
1405:
1404:
1397:
1352:
1348:
1316:
1312:
1299:
1298:
1294:
1281:
1280:
1276:
1264:
1255:
1243:
1234:
1230:
1195:
1186:
1166:
1121:
1113:
1101:heparan sulfate
1071:View/Edit Mouse
1066:View/Edit Human
1029:
1022:
1019:Location (UCSC)
1005:
1001:
997:
976:
972:
968:
942:
938:
934:
913:
909:
905:
901:
897:
810:ENSG00000151348
703:
647:
643:Golgi apparatus
596:
592:protein binding
507:
497:
496:
469:
460:
455:
451:
447:
443:
439:
435:
431:
427:
423:
409:
398:
393:
391:ascending aorta
389:
385:
381:
377:
373:
369:
365:
361:
347:
291:
278:
270:
260:
259:
258:
251:
231:
208:Gene location (
190:
177:
169:
159:
158:
157:
150:
128:
105:Gene location (
56:
43:
36:
17:
12:
11:
5:
3584:
3574:
3573:
3568:
3552:
3551:
3544:
3537:
3529:
3526:
3525:
3504:
3490:
3489:
3486:
3485:
3483:
3482:
3472:
3467:
3461:
3459:
3457:Maroteaux-Lamy
3449:
3448:
3446:
3445:
3440:
3435:
3430:
3425:
3419:
3417:
3407:
3406:
3404:
3403:
3398:
3392:
3390:
3377:
3370:
3369:
3367:
3366:
3361:
3356:
3350:
3349:
3344:
3339:
3333:
3332:
3327:
3322:
3317:
3312:
3306:
3304:
3297:
3296:
3294:
3293:
3285:
3273:
3272:
3265:
3258:
3250:
3241:
3240:
3238:
3237:
3232:
3227:
3221:
3219:
3207:
3206:
3203:
3202:
3200:
3199:
3198:
3197:
3187:
3186:
3185:
3180:
3169:
3167:
3163:
3162:
3159:
3158:
3156:
3155:
3154:
3153:
3138:
3136:
3132:
3131:
3129:
3128:
3123:
3118:
3113:
3107:
3105:
3099:
3098:
3096:
3095:
3089:
3088:
3082:
3081:
3080:
3079:
3074:
3063:
3062:
3061:
3060:
3055:
3044:
3042:
3033:
3024:
3012:
3011:
3008:
3007:
3005:
3004:
2999:
2994:
2989:
2984:
2979:
2974:
2968:
2967:
2962:
2957:
2956:
2955:
2950:
2939:
2937:
2931:
2930:
2928:
2927:
2922:
2917:
2912:
2907:
2902:
2897:
2892:
2887:
2882:
2877:
2872:
2867:
2861:
2859:
2853:
2852:
2850:
2849:
2844:
2839:
2829:
2828:
2823:
2818:
2813:
2808:
2803:
2798:
2793:
2788:
2783:
2777:
2776:
2771:
2766:
2761:
2756:
2751:
2746:
2741:
2736:
2730:
2729:
2724:
2719:
2713:
2711:
2705:
2704:
2702:
2701:
2691:
2686:
2680:
2678:
2672:
2671:
2669:
2668:
2663:
2658:
2653:
2648:
2643:
2638:
2637:
2636:
2631:
2626:
2621:
2610:
2608:
2599:
2587:
2586:
2570:
2569:
2562:
2555:
2547:
2541:
2540:
2533:
2532:External links
2530:
2528:
2527:
2498:
2455:
2423:Human Mutation
2418:
2389:
2336:
2301:
2283:(1–2): 45–50.
2277:Human Genetics
2272:
2237:
2202:
2165:
2143:10.1086/301726
2122:
2100:10.1086/515505
2079:
2036:
2001:
1964:
1929:
1897:Human Mutation
1891:
1889:
1886:
1884:
1883:
1834:
1785:
1759:
1718:
1693:
1644:
1615:(4): 291–319.
1595:
1554:
1525:(9): 1021–32.
1505:
1464:
1438:
1412:
1395:
1366:(9): 1657–63.
1346:
1310:
1292:
1274:
1253:
1231:
1229:
1226:
1194:
1191:
1185:
1182:
1165:
1162:
1120:
1117:
1112:
1109:
1078:
1077:
1074:
1073:
1068:
1058:
1057:
1051:
1050:
1047:
1046:
1044:
1042:
1035:
1034:
1027:
1020:
1016:
1015:
1012:
1011:
993:
992:
986:
983:
982:
964:
963:
957:
953:
952:
949:
948:
930:
929:
923:
920:
919:
893:
892:
886:
882:
881:
878:
877:
869:
868:
862:
859:
858:
850:
849:
843:
837:
836:
833:
832:
824:
823:
817:
814:
813:
805:
804:
798:
792:
791:
788:
787:
779:
778:
772:
769:
768:
760:
759:
753:
747:
746:
741:
736:
732:
731:
721:
720:
717:
716:
705:
704:
702:
701:
696:
691:
686:
681:
676:
671:
666:
661:
655:
653:
649:
648:
646:
645:
640:
635:
630:
625:
623:Golgi membrane
620:
615:
610:
604:
602:
598:
597:
595:
594:
589:
584:
579:
574:
569:
564:
559:
554:
549:
544:
538:
536:
532:
531:
521:
520:
517:
516:
513:
512:
504:
503:
485:
479:
478:
475:
474:
466:
465:
462:
461:
459:
458:
454:
450:
446:
442:
438:
434:
430:
426:
422:
421:tail of embryo
418:
415:
414:
403:
400:
399:
397:
396:
392:
388:
384:
383:thoracic aorta
380:
379:body of uterus
376:
372:
368:
364:
360:
356:
353:
352:
340:
339:
331:
320:
314:
313:
310:RNA expression
302:
301:
298:
297:
289:
285:
284:
276:
273:
268:
262:
261:
252:
245:
239:
235:
234:
229:
223:
222:
214:
213:
201:
200:
197:
196:
188:
184:
183:
175:
172:
167:
161:
160:
151:
144:
138:
134:
133:
126:
120:
119:
111:
110:
98:
97:
54:
50:
49:
41:
33:
32:
28:
27:
24:
23:
15:
9:
6:
4:
3:
2:
3583:
3572:
3569:
3567:
3564:
3563:
3561:
3550:
3545:
3543:
3538:
3536:
3531:
3530:
3524:
3522:
3518:
3514:
3513:chromosome 11
3510:
3505:
3502:
3498:
3497:
3480:
3476:
3473:
3471:
3468:
3466:
3463:
3462:
3460:
3458:
3454:
3450:
3444:
3441:
3439:
3438:Glucuronidase
3436:
3434:
3431:
3429:
3426:
3424:
3421:
3420:
3418:
3416:
3412:
3408:
3402:
3399:
3397:
3394:
3393:
3391:
3389:
3385:
3381:
3378:
3375:
3371:
3365:
3362:
3360:
3357:
3355:
3352:
3351:
3348:
3345:
3343:
3340:
3338:
3335:
3334:
3331:
3328:
3326:
3323:
3321:
3318:
3316:
3313:
3311:
3308:
3307:
3305:
3302:
3298:
3292:
3289:
3286:
3284:
3280:
3277:
3276:
3271:
3266:
3264:
3259:
3257:
3252:
3251:
3248:
3236:
3233:
3231:
3228:
3226:
3223:
3222:
3220:
3218:
3212:
3208:
3196:
3193:
3192:
3191:
3188:
3184:
3181:
3179:
3176:
3175:
3174:
3171:
3170:
3168:
3164:
3152:
3149:
3148:
3147:
3143:
3140:
3139:
3137:
3133:
3127:
3124:
3122:
3119:
3117:
3114:
3112:
3109:
3108:
3106:
3104:
3100:
3094:
3091:
3090:
3087:
3084:
3083:
3078:
3077:Cholera toxin
3075:
3073:
3070:
3069:
3068:
3065:
3064:
3059:
3056:
3054:
3051:
3050:
3049:
3046:
3045:
3043:
3041:
3037:
3034:
3032:
3028:
3025:
3023:
3017:
3013:
3003:
3000:
2998:
2995:
2993:
2990:
2988:
2985:
2983:
2980:
2978:
2975:
2973:
2970:
2969:
2966:
2963:
2961:
2958:
2954:
2951:
2949:
2946:
2945:
2944:
2941:
2940:
2938:
2936:
2932:
2926:
2923:
2921:
2918:
2916:
2913:
2911:
2908:
2906:
2903:
2901:
2898:
2896:
2893:
2891:
2888:
2886:
2883:
2881:
2878:
2876:
2873:
2871:
2868:
2866:
2863:
2862:
2860:
2858:
2854:
2848:
2845:
2843:
2840:
2838:
2834:
2831:
2830:
2827:
2824:
2822:
2819:
2817:
2814:
2812:
2809:
2807:
2804:
2802:
2799:
2797:
2794:
2792:
2789:
2787:
2784:
2782:
2779:
2778:
2775:
2772:
2770:
2767:
2765:
2762:
2760:
2757:
2755:
2752:
2750:
2747:
2745:
2742:
2740:
2737:
2735:
2732:
2731:
2728:
2725:
2723:
2720:
2718:
2715:
2714:
2712:
2710:
2709:Glucuronosyl-
2706:
2699:
2695:
2692:
2690:
2687:
2685:
2682:
2681:
2679:
2677:
2673:
2667:
2664:
2662:
2659:
2657:
2654:
2652:
2649:
2647:
2644:
2642:
2639:
2635:
2632:
2630:
2627:
2625:
2622:
2620:
2617:
2616:
2615:
2614:Phosphorylase
2612:
2611:
2609:
2607:
2603:
2600:
2598:
2592:
2588:
2583:
2579:
2575:
2568:
2563:
2561:
2556:
2554:
2549:
2548:
2545:
2539:
2536:
2535:
2524:
2520:
2516:
2512:
2509:(2): 149–62.
2508:
2504:
2499:
2495:
2491:
2487:
2483:
2478:
2473:
2470:(3): 452–64.
2469:
2465:
2461:
2456:
2452:
2448:
2444:
2440:
2436:
2432:
2428:
2424:
2419:
2415:
2411:
2407:
2403:
2399:
2395:
2390:
2386:
2382:
2377:
2372:
2367:
2362:
2358:
2354:
2351:(2): 668–73.
2350:
2346:
2342:
2337:
2333:
2329:
2324:
2319:
2315:
2311:
2307:
2302:
2298:
2294:
2290:
2286:
2282:
2278:
2273:
2269:
2265:
2260:
2255:
2251:
2247:
2243:
2238:
2234:
2230:
2225:
2220:
2216:
2212:
2208:
2203:
2199:
2195:
2191:
2187:
2183:
2179:
2176:(2): 158–61.
2175:
2171:
2166:
2162:
2158:
2153:
2148:
2144:
2140:
2137:(2): 346–54.
2136:
2132:
2128:
2123:
2119:
2115:
2110:
2105:
2101:
2097:
2093:
2089:
2085:
2080:
2076:
2072:
2067:
2062:
2058:
2054:
2051:(4): 359–67.
2050:
2046:
2042:
2037:
2033:
2029:
2024:
2019:
2015:
2011:
2007:
2002:
1998:
1994:
1990:
1986:
1982:
1978:
1974:
1970:
1965:
1961:
1957:
1952:
1947:
1943:
1939:
1935:
1930:
1926:
1922:
1918:
1914:
1910:
1906:
1902:
1898:
1893:
1892:
1879:
1875:
1870:
1865:
1861:
1857:
1853:
1849:
1845:
1838:
1830:
1826:
1821:
1816:
1812:
1808:
1804:
1800:
1796:
1789:
1773:
1769:
1763:
1755:
1751:
1746:
1741:
1737:
1733:
1729:
1722:
1707:
1703:
1697:
1689:
1685:
1681:
1677:
1672:
1667:
1663:
1659:
1655:
1648:
1640:
1636:
1632:
1628:
1623:
1618:
1614:
1610:
1606:
1599:
1591:
1587:
1582:
1577:
1573:
1569:
1565:
1558:
1550:
1546:
1541:
1536:
1532:
1528:
1524:
1520:
1516:
1509:
1501:
1497:
1492:
1487:
1483:
1479:
1475:
1468:
1452:
1448:
1442:
1426:
1422:
1416:
1408:
1402:
1400:
1391:
1387:
1383:
1379:
1374:
1369:
1365:
1361:
1357:
1350:
1342:
1338:
1334:
1330:
1327:(1): 167–71.
1326:
1322:
1314:
1306:
1302:
1296:
1288:
1284:
1278:
1271:
1267:
1262:
1260:
1258:
1250:
1246:
1241:
1239:
1237:
1232:
1225:
1222:
1218:
1214:
1209:
1204:
1200:
1190:
1181:
1179:
1175:
1171:
1161:
1159:
1155:
1150:
1149:growth plates
1146:
1142:
1141:proteoglycans
1138:
1134:
1130:
1126:
1116:
1111:Gene location
1108:
1106:
1102:
1097:
1095:
1092:
1088:
1084:
1072:
1067:
1063:
1059:
1056:
1052:
1045:
1043:
1040:
1036:
1032:
1028:
1025:
1021:
1017:
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987:
981:
979:
975:
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965:
961:
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947:
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937:
931:
927:
924:
918:
916:
912:
908:
904:
900:
894:
890:
887:
885:RefSeq (mRNA)
883:
876:
875:
870:
866:
863:
857:
856:
851:
847:
844:
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838:
831:
830:
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560:
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534:
533:
530:
529:Gene ontology
526:
522:
510:
505:
501:
494:
489:
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484:
480:
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467:
456:
452:
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444:
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83:
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75:
71:
67:
63:
59:
51:
46:
39:
34:
29:
25:
20:
3521:expanding it
3506:
3346:
3288:proteoglycan
3217:transferases
3022:transferases
2597:transferases
2574:Transferases
2506:
2502:
2467:
2463:
2429:(4): 390–1.
2426:
2422:
2400:(3): 860–7.
2397:
2393:
2348:
2344:
2313:
2309:
2280:
2276:
2252:(4): 230–4.
2249:
2245:
2214:
2210:
2173:
2169:
2134:
2130:
2094:(3): 520–8.
2091:
2087:
2048:
2044:
2013:
2009:
1975:(1): 25–32.
1972:
1968:
1944:(2): 382–7.
1941:
1937:
1903:(3): 220–7.
1900:
1896:
1851:
1847:
1837:
1802:
1798:
1788:
1776:. Retrieved
1771:
1762:
1735:
1731:
1721:
1709:. Retrieved
1705:
1696:
1661:
1657:
1647:
1612:
1608:
1598:
1571:
1567:
1557:
1522:
1518:
1508:
1481:
1477:
1467:
1455:. Retrieved
1450:
1441:
1429:. Retrieved
1424:
1415:
1363:
1359:
1349:
1324:
1320:
1313:
1304:
1295:
1286:
1277:
1221:heterozygous
1217:Wnt proteins
1196:
1187:
1167:
1122:
1119:Interactions
1114:
1098:
1090:
1082:
1081:
1007:NP_001342005
1003:NP_001342004
996:
974:NP_001171554
967:
944:NM_001355076
940:NM_001355075
933:
915:NM_001389630
911:NM_001389628
903:NM_001178083
896:
872:
853:
827:
808:
782:
763:
743:
738:
669:ossification
449:right kidney
333:
326:
53:External IDs
3401:Iduronidase
2676:Galactosyl-
2182:10.1038/514
1848:Development
1778:15 November
1711:15 November
1457:14 November
1431:14 November
292:93,652,913
279:93,491,373
191:44,251,962
178:44,095,648
31:Identifiers
3560:Categories
3411:Sanfilippo
3376:catabolism
3279:Metabolism
2629:Cellobiose
1272:, May 2017
1251:, May 2017
1228:References
1203:homozygous
337:(ortholog)
74:HomoloGene
3511:on human
3303:anabolism
3020:Pentosyl-
2935:Mannosyl-
2606:Glucosyl-
1680:0964-6906
1631:1570-9639
1199:autosomal
1184:Mutations
1170:orthologs
1145:cartilage
999:NP_034293
978:NP_997005
970:NP_000392
936:NM_010163
907:NM_207122
899:NM_000401
729:Orthologs
82:GeneCards
2857:Fucosyl-
2624:Glycogen
2595:Hexosyl-
2523:11169766
2494:25986105
2486:10878610
2451:83566600
2443:10738008
2414:10679296
2385:10639137
2332:10545594
2297:10480354
2268:10429361
2198:25832441
1997:27148572
1925:45999816
1917:10679937
1878:16236767
1829:27748933
1754:17761672
1688:10545594
1639:25556000
1590:10545594
1549:23821404
1500:17761672
1390:20882831
1268:–
1247:–
1208:gastrula
1154:interact
1055:Wikidata
708:Sources:
618:membrane
453:gastrula
429:yolk sac
425:calvaria
3453:Morquio
3291:enzymes
3235:ST8SIA4
3093:Sirtuin
2826:UGT2B28
2821:UGT2B17
2816:UGT2B15
2811:UGT2B11
2806:UGT2B10
2774:UGT1A10
2698:C1GALT1
2353:Bibcode
2233:9756849
2190:9620772
2161:9463333
2152:1376901
2118:9326317
2109:1715939
2075:9110175
2032:8894688
1989:8782816
1960:7668264
1951:1801560
1869:2767329
1820:5102042
1540:4007065
1382:9576285
1341:8162019
1270:Ensembl
1249:Ensembl
1087:protein
841:UniProt
796:Ensembl
735:Species
714:QuickGO
437:decidua
312:pattern
170:11p11.2
38:Aliases
3388:Hurler
3384:Hunter
3364:PAPSS2
3359:PAPSS1
3215:Sialyl
3211:2.4.99
3031:Ribose
2870:POFUT2
2865:POFUT1
2801:UGT2B7
2796:UGT2B4
2791:UGT2A3
2786:UGT2A2
2781:UGT2A1
2769:UGT1A9
2764:UGT1A8
2759:UGT1A7
2754:UGT1A6
2749:UGT1A5
2744:UGT1A4
2739:UGT1A3
2734:UGT1A1
2727:B3GAT3
2722:B3GAT2
2717:B3GAT1
2619:Starch
2521:
2492:
2484:
2449:
2441:
2412:
2383:
2373:
2330:
2295:
2266:
2231:
2196:
2188:
2159:
2149:
2116:
2106:
2073:
2066:139145
2063:
2030:
1995:
1987:
1958:
1948:
1923:
1915:
1876:
1866:
1827:
1817:
1752:
1686:
1678:
1637:
1629:
1588:
1547:
1537:
1498:
1427:. NCBI
1388:
1380:
1360:Cancer
1339:
1135:, and
1041:search
1039:PubMed
874:P70428
855:Q93063
751:Entrez
483:BioGPS
70:108050
62:608210
3515:is a
3183:XYLT2
3178:XYLT1
3166:Other
3151:ECGF1
3135:Other
3016:2.4.2
3002:ALG12
2953:POMT2
2948:POMT1
2925:FUT11
2920:FUT10
2591:2.4.1
2490:S2CID
2447:S2CID
2376:15388
2194:S2CID
1993:S2CID
1921:S2CID
1386:S2CID
1158:TRAP1
1156:with
1137:EXTL3
1133:EXTL2
1129:EXTL1
1085:is a
784:14043
744:Mouse
739:Human
710:Amigo
457:molar
445:ankle
371:tibia
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
3517:stub
3509:gene
3479:GLB1
3347:EXT2
3342:EXT1
2997:ALG9
2992:ALG8
2987:ALG6
2982:ALG3
2977:ALG2
2972:ALG1
2965:DPM3
2960:DPM1
2915:FUT9
2910:FUT8
2905:FUT7
2900:FUT6
2895:FUT5
2890:FUT4
2885:FUT3
2880:FUT2
2875:FUT1
2847:HAS3
2842:HAS2
2837:HAS1
2634:Myo-
2584:2.4)
2519:PMID
2482:PMID
2439:PMID
2410:PMID
2381:PMID
2328:PMID
2293:PMID
2264:PMID
2229:PMID
2186:PMID
2157:PMID
2114:PMID
2071:PMID
2028:PMID
1985:PMID
1956:PMID
1913:PMID
1874:PMID
1825:PMID
1780:2019
1750:PMID
1713:2019
1706:NCBI
1684:PMID
1676:ISSN
1635:PMID
1627:ISSN
1613:1854
1586:PMID
1545:PMID
1496:PMID
1459:2019
1433:2019
1378:PMID
1337:PMID
1176:and
1125:EXT1
1094:gene
1091:EXT2
765:2132
318:Bgee
266:Band
227:Chr.
165:Band
124:Chr.
86:EXT2
58:OMIM
45:EXT2
22:EXT2
3415:Sly
2511:doi
2472:doi
2468:218
2431:doi
2402:doi
2398:268
2371:PMC
2361:doi
2318:doi
2285:doi
2281:105
2254:doi
2219:doi
2215:273
2178:doi
2147:PMC
2139:doi
2104:PMC
2096:doi
2061:PMC
2053:doi
2018:doi
1977:doi
1946:PMC
1905:doi
1864:PMC
1856:doi
1852:132
1815:PMC
1807:doi
1740:doi
1736:282
1666:doi
1617:doi
1576:doi
1535:PMC
1527:doi
1523:242
1486:doi
1482:282
1368:doi
1329:doi
288:End
187:End
90:OMA
78:345
66:MGI
3562::
3413:,
3386:,
3281::
3213::
3144::
3018::
2835::
2593::
2582:EC
2576::
2517:.
2507:48
2505:.
2488:.
2480:.
2466:.
2462:.
2445:.
2437:.
2427:15
2425:.
2408:.
2396:.
2379:.
2369:.
2359:.
2349:97
2347:.
2343:.
2326:.
2312:.
2308:.
2291:.
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2262:.
2250:44
2248:.
2244:.
2227:.
2213:.
2209:.
2192:.
2184:.
2174:19
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2155:.
2145:.
2135:62
2133:.
2129:.
2112:.
2102:.
2092:61
2090:.
2086:.
2069:.
2059:.
2047:.
2043:.
2026:.
2012:.
2008:.
1991:.
1983:.
1973:14
1971:.
1954:.
1942:57
1940:.
1936:.
1919:.
1911:.
1901:15
1899:.
1872:.
1862:.
1850:.
1846:.
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1801:.
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1770:.
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1704:.
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1633:.
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1611:.
1607:.
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1570:.
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1423:.
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1358:.
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1180:.
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281:bp
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180:bp
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