SOX2-OT (SOX2 overlapping transcript)

Gene

• Entrez ID: 347689
• Gene name: SOX2 overlapping transcript
• Gene symbol: SOX2-OT
• Synonyms: NCRNA00043, SOX2OT
• Chromosome: 3
• Chromosome location: 3q26.33
• Summary: This gene produces alternatively spliced long non-coding RNAs. These RNAs were observed to be upregulated in tumor cells and positively correlated to expression of the SRY-box 2 gene. Overexpression of these transcripts may promote cell proliferation. [pr

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0007275	Process	Multicellular organism development	IEA

Other IDs

• MIM: 616338
• HGNC: 20209
• e!Ensembl: ENSG00000242808

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Syndromic microphthalmia	Microphthalmia, Syndromic 3, Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937	22171155, 24211324, 24498598, 19921648
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	20803647, 27427475, 19921648, 16932809, 15812812, 17219395, 16145681, 15578584
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	30285260, 25056061, 28991256, 26198764
Hypothyroidism	Secondary hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605

Unknown
Disease name	Disease term	dbSNP ID	References
Anorexia	Anorexia Nervosa		24514567
Bipolar disorder	Bipolar Disorder		26433762
Eating disorders	Eating Disorders		26433762
Optic nerve hypoplasia and abnormalities of the central nervous system	Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System