GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:18285410

From GONUTS
Jump to: navigation, search
Citation

Kelberman, D, de Castro, SC, Huang, S, Crolla, JA, Palmer, R, Gregory, JW, Taylor, D, Cavallo, L, Faienza, MF, Fischetto, R, Achermann, JC, Martinez-Barbera, JP, Rizzoti, K, Lovell-Badge, R, Robinson, IC, Gerrelli, D and Dattani, MT (2008) SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J. Clin. Endocrinol. Metab. 93:1865-73

Abstract

Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral anophthalmia or severe microphthalmia and hypopituitarism. Variable additional abnormalities include defects of the corpus callosum and hippocampus.

Links

PubMed Online version:10.1210/jc.2007-2337

Keywords

Adolescent; Adult; Child; DNA-Binding Proteins/genetics; DNA-Binding Proteins/physiology; Eye/embryology; Eye Abnormalities/etiology; Eye Abnormalities/genetics; Female; HMGB Proteins/genetics; HMGB Proteins/physiology; Humans; Hypopituitarism/etiology; Hypopituitarism/genetics; Mutation; Pituitary Gland/embryology; Prosencephalon/embryology; RNA, Messenger/analysis; SOXB1 Transcription Factors; Signal Transduction; Transcription Factors/genetics; Transcription Factors/physiology; beta Catenin/physiology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:SOX2

located_in

GO:0005634: nucleus

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:SOX2

involved_in

GO:0001654: eye development

ECO:0000270: expression pattern evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SOX2

involved_in

GO:0090090: negative regulation of canonical Wnt signaling pathway

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SOX2

enables

GO:0003677: DNA binding

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:SOX2

part_of

GO:0005634: nucleus

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:SOX2

involved_in

GO:0030900: forebrain development

ECO:0000270: expression pattern evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SOX2

involved_in

GO:0021983: pituitary gland development

ECO:0000270: expression pattern evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.