SOX2 |
- 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)