Free for academic non-profit institutions. Other users need a Commercial license
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]
SOX6 (SRY-Box Transcription Factor 6) is a Protein Coding gene. Diseases associated with SOX6 include Arthrogryposis, Distal, Type 1B and Arthrogryposis, Distal, Type 2A. Among its related pathways are Signaling by GPCR and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 26525805 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001217 | bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding | IEA,ISS | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IDA,NAS | 1614875 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Wnt |
.71
|
|
2 | Mesenchymal Stem Cells and Lineage-specific Markers | ||
3 | ERK Signaling |
Molecular Mechanisms of Cancer
.51
|
|
4 | Deactivation of the beta-catenin transactivating complex | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0000902 | cell morphogenesis | IEA | -- |
GO:0001502 | cartilage condensation | ISS | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0002062 | chondrocyte differentiation | ISS | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SOX6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SOX6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SOX6 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SOX6 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sox6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sox6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SOX6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SOX6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SOX6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sox6 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11718 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sox102F 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | egl-13 31 32 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10481 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1313026962 | Likely Benign: not specified | 15,989,233(-) | G/A | INTRON_VARIANT | |
rs1554941241 | Uncertain Significance: not provided | 16,183,945(-) | G/A | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
arthrogryposis, distal, type 1b |
|
|
arthrogryposis, distal, type 2a |
|
|
arthrogryposis, distal, type 1a |
|
|
campomelic dysplasia |
|
|
thalassemia |
|
|