• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SOX2 (HGNC:11195) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SRY-box transcription factor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
0.54(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.71(Read more about gnomAD pLI score)
LOEUF
0.57(Read more about gnomAD LOEUF score)
Cytoband
3q26.33
Genomic Coordinates
GRCh37/hg19: chr3:181429713-181432224 NCBI Ensembl UCSC
GRCh38/hg38: chr3:181711925-181714436 NCBI Ensembl UCSC
MANE Select Transcript
NM_003106.4 ENST00000325404.3 (Read more about MANE Select)
Function
Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408). Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31541
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • anophthalmia/microphthalmia-esophageal atresia syndrome Monarch
HI Evidence:
  • PUBMED: 17522144
    Mutation analysis on a cohort of 120 patients with congenital eye anomalies identified 12 cases with heterozygous SOX2 mutations; 5 whole gene deletions, 1 partial deletion, and 6 intragenic mutations are reported.
  • PUBMED: 16543359
    Heterozygous, loss-of-function SOX2 mutations are identified in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome (MIM# 600992). One case of a 2.7 Mb deletion encompassing SOX2 and associated with a cryptic translocation t(3;7)(p28;p21.3) is described. The other two have a SOX2 nonsense or missense mutation.
  • PUBMED: 12612584
    A deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)