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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 Tolchin-Le Caignec Syndrome and Disease Of Mental Health. Among its related pathways are Signaling by GPCR and ERK Signaling. 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 | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0000987 | proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0001217 | bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IDA,NAS | 1614875 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Wnt |
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2 | Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers | ||
3 | ERK Signaling |
Molecular Mechanisms of Cancer
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4 | Deactivation of the beta-catenin transactivating complex | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001502 | cartilage condensation | ISS | -- |
GO:0002062 | chondrocyte differentiation | ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | NAS | 1614875 |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007275 | multicellular organism development | IEA | -- |
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 |
---|---|---|---|---|---|
974904 | Pathogenic: Tolchin-Le Caignec syndrome | 16,318,649(-) |
G/C NM_001367873.1(SOX6):c.242C>G (p.Ser81Ter) |
NONSENSE | |
974906 | Pathogenic: Tolchin-Le Caignec syndrome | 15,989,089(-) |
A/G NM_001367873.1(SOX6):c.1874T>C (p.Met625Thr) |
MISSENSE | |
974907 | Pathogenic: Tolchin-Le Caignec syndrome | 15,986,412(-) |
A/T NM_001367873.1(SOX6):c.1975T>A (p.Trp659Arg) |
MISSENSE | |
977313 | Pathogenic: Intellectual disability | 16,111,822(-) |
A/AG NM_001367873.1(SOX6):c.878dup (p.Gly294fs) |
FRAMESHIFT | |
985429 | Uncertain Significance: Inborn genetic diseases | 15,986,360(-) |
C/T NM_033326.3(SOX6):c.1967G>A (p.Arg656Gln) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
tolchin-le caignec syndrome |
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disease of mental health |
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alacrima, achalasia, and mental retardation syndrome |
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arthrogryposis, distal, type 1a |
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arthrogryposis, distal, type 2a |
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