| Entrez Gene ID | 55553 |
|---|---|
| Official Gene Symbol | SOX6 (GeneCards) |
| Full name | SRY-box 6 |
| Location | 11p15.2 |
| Other ids | Vega : OTTHUMG00000165876 MIM : 607257 HGNC : HGNC:16421 Ensembl : ENSG00000110693 |
| Other names | SOXD, HSSOX6 |
| Summary | This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 15003 | 55553 | SOX6 | 11 | 16199380 | 16199380 | Asymptomatic | HiSeq X Ten |
| 15055 | 55553 | SOX6 | 11 | 16389886 | 16389886 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 15791 | 55553 | SOX6 | 11 | 16116856 | 16116856 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
| 15800 | 55553 | SOX6 | 11 | 16172470 | 16172470 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
| 27362 | 55553 | SOX6 | 11 | 16749965 | 16749965 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |