HNRNPUL2-BSCL2 (HNRNPUL2-BSCL2 readthrough (NMD candidate))

Gene

• Entrez ID: 100534595
• Gene name: HNRNPUL2-BSCL2 readthrough (NMD candidate)
• Gene symbol: HNRNPUL2-BSCL2
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11q12.3
• Summary: This locus represents naturally occurring read-through transcription between the neighboring HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2) and BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) genes on chromosome 11. The read-thr

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital lipodystrophy	Congenital Generalized Lipodystrophy Type 2	rs786205069, rs587777608, rs786205071, rs137852970, rs137852971, rs758843908, rs137852973, rs137852974, rs137852975, rs1427062799, rs1567776490, rs1567782465, rs1489315815, rs104894093, rs116807569, rs387906355, rs104894100, rs121908925, rs606231168, rs121908926, rs121434501, rs1567782493, rs1567776514, rs1207466199, rs866504928, rs587777606, rs797045176, rs797045222, rs879254029, rs886063722, rs748157664, rs933422777, rs764260414, rs749890533, rs766061024, rs1013079991, rs1057518714, rs1057518715, rs1064797076, rs1131691791, rs1554983076, rs1564290079, rs1564290914, rs1565144681, rs747297291, rs1565152616, rs557044760, rs1565142553, rs1588263957	11916958
Dysautonomia	Hereditary Motor and Sensory-Neuropathy Type II	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995	23564749, 26282322, 22045697, 25454168, 17486577, 20598714, 25219579, 24345054, 26815532, 23553728, 18585921, 17387721, 24604904, 21957196, 15732094, 16427281, 14981520, 25487175
Lipodystrophy	Familial generalized lipodystrophy	rs553668, rs766817317
Monogenic diabetes	Monogenic diabetes	rs137852673, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs587776825, rs137853236, rs137853237, rs137853238, rs2135818776, rs1566092470, rs137853243, rs137853244, rs137853245, rs80356655, rs104894008, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs193922254, rs193922257, rs193922258, rs193922260, rs193922262, rs193922263, rs193922264, rs193922265, rs193922266, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922280, rs193922282, rs193922283, rs193922284, rs193922286, rs193922289, rs193922291, rs193922297, rs193922300, rs193922302, rs193922311, rs193922313, rs193922315, rs193922317, rs193922319, rs193922335, rs193922471, rs193922475, rs193922476, rs193922479, rs193922480, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs267607555, rs587780343, rs587780344, rs587780346, rs587780357, rs794727236, rs794727775, rs794727839, rs759072800, rs797045595, rs864321656, rs777870079, rs769268803, rs886039544, rs886039386, rs886042610, rs754728827, rs1057517745, rs1057520109, rs1057521092, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524896, rs1057524898, rs1057524900, rs1057524901, rs1057524902, rs1057524903, rs1057524904, rs1057524905, rs764232985, rs1057524908, rs1064795242, rs1064793134, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307455, rs1085307913, rs765432081, rs1131692182, rs1554335441, rs762263694, rs767565869, rs1375656631, rs370375148, rs1554335616, rs769518471, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs776489992, rs1554334539, rs1554334546, rs1400535021, rs1554334610, rs1554334613, rs1415041911, rs556581174, rs1554334894, rs1554334905, rs1554335111, rs104894011, rs1554335132, rs1332966015, rs746913146, rs1554335573, rs1554335966, rs1555260207, rs1555210478, rs753998395, rs1555211426, rs1555211436, rs1555211922, rs1555211999, rs1555212014, rs1555816615, rs1555816642, rs781364316, rs1555817727, rs1555817851, rs1555211904, rs1555211975, rs779184183, rs1555815158, rs1555212396, rs1555815396, rs1555813342, rs1555815393, rs1555813267, rs1236613475, rs954727530, rs369841551, rs771108132, rs1566092307, rs1562711915, rs1185622190, rs1167124132, rs1471992838, rs1562713041, rs193922340, rs556436603, rs1562715657, rs1562717053, rs1562718043, rs193922292, rs1444739794, rs1486280029, rs193922401, rs1565883507, rs1172328722, rs1286294151, rs1565886545, rs1375557127, rs1568731279, rs1392795567, rs1229650809, rs1476637197, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs766956862, rs1290868034, rs1191912908, rs1593058932, rs2096270755, rs1364708195, rs1877324101	23430896
Partial lipodystrophy	Familial Partial Lipodystrophy, Type 3	rs121909244, rs72551362, rs72551363, rs72551364, rs121909245, rs121909246, rs28928900, rs57520892, rs60864230, rs57920071, rs61282106, rs61214927, rs1567075176, rs1567075667, rs587776968, rs267607555, rs59981161, rs57629361, rs56793579, rs57077886, rs1553643326, rs148195788, rs1553647989, rs1378972597, rs1553650477, rs1553653993, rs770557781
Spastic paraplegia	Spastic paraplegia 17	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	18790819, 17387721, 21750110