Gene content    
SOX3 (-- by HUGO)
SRY (sex determining region Y)-box 3 ------------------------------------ (Previous name: panhypopit
--
SRY (Sex Determining Region Y)-Box 3
GHDX
PHP
PHPX
MRGH
SOXB
Panhypopituitarism
Transcription Factor SOX
NCBI: Xq27.1    Ensembl: Xq27.1
SOX3_HUMANSize: 446 amino acidsMass: 45210 Da

  • Subcellular location: Nucleus Caution: Was originally (PubMed:1614875) termed SOX-9 Secondary accessions: P35714 Q5JWI3 Q9NP49 Explore the universe of human proteins at neXtProt for SOX3: NX_P41225 Post-translational modifications: * View modification sites using PhosphoSitePl
  • Subunit: Interacts with SOX2 and FGFR1 (By similarity)
  • Similarity:
    Contains 1 HMG box DNA-binding domain

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR009071HMG_superfamilyHigh mobility group boxDomain

    Disorder & Mutation    
    Source Disease
    SWISS-PROTDefects in SOX3 are a cause of panhypopituitarism X-linked (PHPX) [MIM:312000]. Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary
    SWISS-PROTDefects in SOX3 are the cause of mental retardation X-linked with isolated growth hormone deficiency (MRXGH) [MIM:300123]
    SWISS-PROTDefects in SOX3 are the cause of 46,XX sex reversal type 3 (SRXX3) [MIM:300833]. A condition in which male gonads develop in a genetic female (female to male sex reversal). Note=Copy number variations (CNV) encompassing or in close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately 6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation

    SOX3 cross reference    
    PubMed Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene