Medical Knowledge Cockpit optic nerve hypoplasia

SOX2

• Serological identification of embryonic neural proteins as highly immunogenic tumor antigens in small cell lung cancer
• Modulation of the activity of multiple transcriptional activation domains by the DNA binding domains mediates the synergistic action of Sox2 and Oct-3 on the fibroblast growth factor-4 enhancer
• Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development
• Mutations in SOX2 cause anophthalmia
• Identification of novel domains within Sox-2 and Sox-11 involved in autoinhibition of DNA binding and partnership specificity

PAX6

• Functional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferation

TUBA8

• TUBA8: A new tissue-specific isoform of alpha-tubulin that is highly conserved in human and mouse

SOX2

Somatic tumors

NSCLC, oesophageal squamous carcinoma

Tumor types germline

Cancer Syndrom

Translocation partner

Name

SRY (sex determining region Y)-box 2

Chromosome banding

3q26.3-q27

Cancer molecular gen.

Dom

Mutation type

A

Other syndrome disease

Microphthalmia and oesophageal atresia syndrome

• Phagosome
  Homo sapiens (human) one gene

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