PAX4 (paired box 4)

Gene

• Entrez ID: 5078
• Gene name: Paired box 4
• Gene symbol: PAX4
• Synonyms: KPD, MODY9
• Chromosome: 7
• Chromosome location: 7q32.1
• Summary: This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT684769	hsa-miR-6733-3p	HITS-CLIP	23313552
MIRT684768	hsa-miR-4302	HITS-CLIP	23313552
MIRT684767	hsa-miR-4783-5p	HITS-CLIP	23313552
MIRT684766	hsa-miR-4697-3p	HITS-CLIP	23313552
MIRT684765	hsa-miR-223-3p	HITS-CLIP	23313552
MIRT684764	hsa-miR-933	HITS-CLIP	23313552
MIRT684763	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT684762	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT684769	hsa-miR-6733-3p	HITS-CLIP	23313552
MIRT684768	hsa-miR-4302	HITS-CLIP	23313552
MIRT684767	hsa-miR-4783-5p	HITS-CLIP	23313552
MIRT684766	hsa-miR-4697-3p	HITS-CLIP	23313552
MIRT684765	hsa-miR-223-3p	HITS-CLIP	23313552
MIRT684764	hsa-miR-933	HITS-CLIP	23313552
MIRT684763	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT684762	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT1215321	hsa-miR-1286	CLIP-seq
MIRT1215322	hsa-miR-4419a	CLIP-seq
MIRT1215323	hsa-miR-4459	CLIP-seq
MIRT1215324	hsa-miR-4510	CLIP-seq
MIRT1215325	hsa-miR-4779	CLIP-seq
MIRT1552129	hsa-miR-4476	CLIP-seq
MIRT1552130	hsa-miR-4533	CLIP-seq
MIRT2061965	hsa-miR-1293	CLIP-seq
MIRT2061966	hsa-miR-4436b-3p	CLIP-seq
MIRT2061967	hsa-miR-4455	CLIP-seq
MIRT2061968	hsa-miR-4483	CLIP-seq
MIRT2061969	hsa-miR-4761-3p	CLIP-seq
MIRT2061970	hsa-miR-4795-5p	CLIP-seq
MIRT2061971	hsa-miR-609	CLIP-seq
MIRT2290476	hsa-miR-153	CLIP-seq
MIRT2392149	hsa-miR-3664-5p	CLIP-seq
MIRT2392150	hsa-miR-425	CLIP-seq
MIRT2392151	hsa-miR-4639-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ARX	Unknown	23771350

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	TAS	9480859
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0009887	Process	Animal organ morphogenesis	TAS	9480859
GO:0030154	Process	Cell differentiation	IEA
GO:0031018	Process	Endocrine pancreas development	TAS
GO:0048856	Process	Anatomical structure development	IBA	21873635
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 167413
• HGNC: 8618
• e!Ensembl: ENSG00000106331

Protein

• UniProt ID: O43316
• Protein name: Paired box protein Pax-4
• Protein function: Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promote
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00292	PAX	5 → 129		Domain
  PF00046	Homeodomain	171 → 227	Homeodomain	Domain

• Sequence:

  MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGR
  YYRTGVLEPKGIGGSKPRLATPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPS
  VSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSETPRGTHPGTGHRNRTIFSPS
  QAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
  SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACL
  KPCWDCGSFLLPVIAPSCVDVAWPCLDASLAHHLIGGAGKATPTHFSHWP

• Sequence length: 350

Pathways

KEGG:

Maturity onset diabetes of the young

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hyperinsulinemic hypoglycemia	Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia	rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent, Transient neonatal diabetes mellitus, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	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	29632382, 30718926, 11723072, 15509590
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Mason type diabetes	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder), Maturity onset diabetes mellitus in young, MODY	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	17426099, 22521316, 25041077, 21263211, 17426099
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	18949370
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
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573

Unknown
Disease name	Disease term	dbSNP ID	References
Autoimmune diabetes	Diabetes, Autoimmune
Pancreatic hypoplasia	Congenital hypoplasia of pancreas	rs28509441, rs193922358, rs199644078, rs1380564366, rs143517122
Brittle diabetes mellitus	Brittle diabetes
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency
Hepatocellular adenoma	Hepatocellular Adenoma
Hyperglycemia	Hyperglycemia
Hypoinsulinemia	Hypoinsulinaemia (disorder)
Ketosis	Ketosis
Hypoglycemia	Neonatal hypoglycemia
Retinal diseases	Retinal Diseases