Property Summary

NCBI Gene PubMed Count 40
Grant Count 128
R01 Count 49
Funding $24,562,119.17
PubMed Score 454.74
PubTator Score 109.66

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytic glioma 1.400 0.003
oligodendroglioma 1.100 0.000
glioblastoma 1.700 0.023
primitive neuroectodermal tumor 2.600 0.008
pediatric high grade glioma 1.700 0.003
pilocytic astrocytoma 1.400 0.001
psoriasis -1.200 0.003

Synonym

Accession P41225 P35714 Q5JWI3 Q9NP49
Symbols PHP
GHDX
MRGH
PHPX
SOXB

Gene

Gene RIF (28)

PMID Text
25791725 SOX3 overdosage permits normal sex development in 46,XX individuals with random X inactivation.
25351776 Translocations interrupting this region may also affect the gonadal development, possibly depending on the chromatin context of the recipient chromosome. SOX3 duplications may substitute SRY in some XX subjects
25140394 Screening for SOX3 should be advised not only for hypopituitary patients with an ectopic posterior pituitary, but also for those with a structurally normal pituitary
24737742 SOX3 duplication is a genetic cause for XH but has incomplete penetrance. Moreover, increased SOX3 levels may be a risk factor for NTD and potentially other clinical characteristics.
24346842 Our study provides additional evidence that deletion in polyalanine tracts of SOX3 is associated with hypopituitarism
24257117 the results point at CREB as a positive regulator of SOX3 gene transcription in NT2/D1 cells, while its contribution to RA induction of SOX3 promoter is not prominent.
23238694 Overexpression of Sox3 is associated with esophageal squamous cell carcinoma.
23211052 Results indicate positive expression of SOX2, SOX3, PAX6, OCT3/4, and NANOG in the CD105+ and CD105(-) cell subpopulations.
23199197 Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS).
22293114 TGIF (TG-interacting factor) is an additional TALE superfamily member involved in the regulation of human SOX3 gene expression
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AA Sequence

MRPVRENSSGARSPRVPADLARSILISLPFPPDSLAHRPPSSAPTESQGLFTVAAPAPGAPSPPATLAHL      1 - 70
LPAPAMYSLLETELKNPVGTPTQAAGTGGPAAPGGAGKSSANAAGGANSGGGSSGGASGGGGGTDQDRVK     71 - 140
RPMNAFMVWSRGQRRKMALENPKMHNSEISKRLGADWKLLTDAEKRPFIDEAKRLRAVHMKEYPDYKYRP    141 - 210
RRKTKTLLKKDKYSLPSGLLPPGAAAAAAAAAAAAAAASSPVGVGQRLDTYTHVNGWANGAYSLVQEQLG    211 - 280
YAQPPSMSSPPPPPALPPMHRYDMAGLQYSPMMPPGAQSYMNVAAAAAAASGYGGMAPSATAAAAAAYGQ    281 - 350
QPATAAAAAAAAAAMSLGPMGSVVKSEPSSPPPAIASHSQRACLGDLRDMISMYLPPGGDAADAASPLPG    351 - 420
GRLHGVHQHYQGAGTAVNGTVPLTHI                                                421 - 446
//

Text Mined References (41)

PMID Year Title
25791725 2015 SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation.
25351776 2015 Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
25140394 2014 SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.
24737742 2014 Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
24346842 2014 A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
24257117 2014 Cyclic AMP response element binding (CREB) protein acts as a positive regulator of SOX3 gene expression in NT2/D1 cells.
23624391 2013 A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.
23238694 2013 Overexpression of Sox3 is associated with diminished prognosis in esophageal squamous cell carcinoma.
23211052 2013 Characterization of mesenchymal stem cell subpopulations from human amniotic membrane with dissimilar osteoblastic potential.
23199197 2013 Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
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