INS-IGF2 (INS-IGF2 readthrough)

Gene

• Entrez ID: 723961
• Gene name: INS-IGF2 readthrough
• Gene symbol: INS-IGF2
• Synonyms: INSIGF
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5` region and to the IGF2 gene in the 3` region. One transcript is predicted to encode a protein which shares the N-terminus with the INS pro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1067729	hsa-miR-1205	CLIP-seq
MIRT1067730	hsa-miR-2467-5p	CLIP-seq
MIRT1067731	hsa-miR-3183	CLIP-seq
MIRT1067732	hsa-miR-3188	CLIP-seq
MIRT1067733	hsa-miR-3975	CLIP-seq
MIRT1067734	hsa-miR-4259	CLIP-seq
MIRT1067735	hsa-miR-4260	CLIP-seq
MIRT1067736	hsa-miR-4283	CLIP-seq
MIRT1067737	hsa-miR-4489	CLIP-seq
MIRT1067738	hsa-miR-4505	CLIP-seq
MIRT1067739	hsa-miR-4649-3p	CLIP-seq
MIRT1067740	hsa-miR-4656	CLIP-seq
MIRT1067741	hsa-miR-4723-3p	CLIP-seq
MIRT1067742	hsa-miR-4731-5p	CLIP-seq
MIRT1067743	hsa-miR-485-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005179	Function	Hormone activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0007165	Process	Signal transduction	IEA

Other IDs

• MIM: HGNC
• e!Ensembl: HGNC

Protein

• UniProt ID: F8WCM5
• Protein name: Insulin, isoform 2 (INS-IGF2 readthrough transcript protein)
• PDB: 7YQ3, 7YQ4, 7YQ5, 8GUY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00049	Insulin	28 → 168	Insulin/IGF/Relaxin family	Domain

• Sequence:

  MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAED
  LQASALSLSSSTSTWPEGLDATARAPPALVVTANIGQAGGSSSRQFRQRALGTSDSPVLF
  IHCPGAAGTAQGLEYRGRRVTTELVWEEVDSSPQPQGSESLPAQPPAQPAPQPEPQQARE
  PSPEVSCCGLWPRRPQRSQN

• Sequence length: 200

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	26301688
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	26301688
Common variable immunodeficiency	Common Variable Immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	26301688
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent, Neonatal diabetes mellitus, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545, 26301688, 21829393, 17554260, 25751624, 31152121, 28838971, 30254083, 25102180, 21592955, 20133622
Hyperproinsulinemia	Hyperproinsulinemia	rs148685531, rs80356668, rs28933985
Mason type diabetes	Maturity-onset diabetes of the young, type 10	rs80356625, rs104894237, rs587776825, rs137853236, rs137853237, rs137853238, rs1566092470, rs1463923467, rs137853243, rs137853244, rs104894006, rs80356655, rs104894008, rs193922254, rs193922259, rs193922263, rs193922264, rs193922265, rs193922268, rs193922269, rs193922272, rs193922275, rs193922280, rs193922281, rs193922284, rs193922289, rs193922291, rs193922295, rs193922300, rs193922302, rs193922313, rs193922314, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922329, rs193922330, rs193922331, rs193922336, rs193922340, rs193922475, rs193922476, rs193922479, rs193922480, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs587780344, rs587780346, rs587780357, rs587783672, rs786204676, rs151344624, rs794727775, rs794727839, rs759072800, rs797045595, rs863225280, rs864321656, rs878853246, rs886039544, rs886039386, rs886042015, rs886041690, rs886041391, rs886041820, rs886042610, rs754728827, rs1057517745, rs1057521094, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524898, rs1057524904, rs1057524905, rs764232985, rs1057524908, rs1064793134, rs1064796410, rs1057520109, rs769086289, rs1085307455, rs1085307913, rs1131691483, rs765432081, rs1131692182, rs1554335441, rs762263694, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555833071, rs1554334539, rs1554334610, rs1554334613, rs193922258, rs1554334894, rs1554334905, rs1554335111, rs1554335132, rs1554335135, rs1332966015, rs746913146, rs1246464603, rs1554335573, rs1554335585, rs1554335966, rs1260178539, rs1555260207, rs1555210478, rs1555211426, rs1555211436, rs1555211922, rs1555211999, rs1555212014, rs1555816615, rs1555816642, rs1555817851, rs144723656, rs1555211904, rs1555211975, rs779184183, rs1555815158, rs1554335564, rs1555212396, rs1555815396, rs1400535021, rs1555813342, rs1555815393, rs1554334872, rs1555212749, rs1555833144, rs1555212363, rs1555813267, rs1236613475, rs1554924035, rs1554913069, rs1554933565, rs766431403, rs758844607, rs771108132, rs1566092307, rs753998395, rs1565885935, rs1562711915, rs1562713041, rs1562715296, rs1562715657, rs1562717053, rs1562718043, rs1564869850, rs193922401, rs755259997, rs1565883507, rs1172328722, rs1286294151, rs1565886545, rs1565887211, rs1375557127, rs1568731279, rs1562719029, rs1562715426, rs776793516, rs1568724014, rs1392795567, rs1562719705, rs1564977373, rs1598806177, rs1598809747, rs1598815016, rs1598840773, rs1598840795, rs1598841082, rs1598842886, rs1598848672, rs1598854261, rs1598854747, rs1229650809, rs1598840996, rs1583592247, rs780612692, rs1593060859, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs751279776, rs1583601365, rs1281712444, rs1593060890, rs1593060912, rs1592898255, rs1290868034, rs1191912908, rs1583601110, rs1593054210, rs1592897526, rs1600707958, rs1600710669, rs1598809697, rs1593058932, rs1593060966, rs2096270755, rs1364708195, rs1877324101	20226046, 17855560, 18192540, 25542748, 18162506
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	25542748, 18162506, 20226046, 17855560, 18192540
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26301688

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26301688
Autoimmune thyroiditis	Autoimmune thyroiditis		26301688
Celiac disease	Celiac Disease	rs2305764, rs35218876	26301688
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26301688
Growth restriction, severe, with distinctive facies	GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
Hyperglycemia	Hyperglycemia		20226046, 18162506, 18192540, 17855560, 25542748
Autoimmune diabetes	Latent Autoimmune Diabetes in Adults		30254083
Liver carcinoma	Liver carcinoma		28284560
Lupus erythematosus	Lupus Erythematosus, Systemic		26301688
Russell-silver syndrome	Russell-Silver syndrome
Ulcerative colitis	Ulcerative Colitis		26301688