Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
347689
Gene name Gene Name - the full gene name approved by the HGNC.
SOX2 overlapping transcript
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOX2-OT
Synonyms (NCBI Gene) Gene synonyms aliases
NCRNA00043, SOX2OT
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.33
Summary Summary of gene provided in NCBI Entrez Gene.
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) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0007275 Process Multicellular organism development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616338 20209 ENSG00000242808
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
View all (19 more)
22171155, 24211324, 24498598, 19921648
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 20803647, 27427475, 19921648, 16932809, 15812812, 17219395, 16145681, 15578584
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
30285260, 25056061, 28991256, 26198764