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Protein Coding Gene : Sox2 SRY (sex determining region Y)-box 2

Primary Identifier  MGI:98364 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  20674
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables DNA binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; neuronal stem cell population maintenance; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including forebrain development; respiratory system development; and sensory organ morphogenesis. Located in cytoplasm and nucleus. Part of chromatin and transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in breast cancer; nasal cavity cancer; and syndromic microphthalmia 3. Orthologous to human SOX2 (SRY-box transcription factor 2).
PHENOTYPE: Homozygotes for targeted null mutations implant but fail to develop an egg cylinder or epiblast, and die shortly thereafter. Other mutations that affect only regulatory elements show circling behavior and deafness, inner ear defects, and a yellow coat color. [provided by MGI curators]
  • synonyms:
  • Sox-2,
  • MGD-MRK-14493,
  • light coat and circling,
  • lcc,
  • yellow submarine,
  • MGI:2181707,
  • MGI:1891165,
  • SRY (sex determining region Y)-box 2,
  • Sox2,
  • ysb,
  • MGD-MRK-14503

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

10 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

14 Driver For