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This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SOX5 (SRY-Box Transcription Factor 5) is a Protein Coding gene. Diseases associated with SOX5 include Lamb-Shaffer Syndrome and Optic Nerve Hypoplasia, Bilateral. Among its related pathways are Neural Crest Differentiation and Mesenchymal Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is SOX6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 26525805 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | TAS | 8812465 |
GO:0005515 | protein binding | IPI | 21262861 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mesenchymal Stem Cells and Lineage-specific Markers | ||
2 | ERK Signaling |
Molecular Mechanisms of Cancer
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3 | Endochondral Ossification | ||
4 | Neural Crest Differentiation |
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 | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | 8812465 |
GO:0032332 | positive regulation of chondrocyte differentiation | IBA,IDA | 21401405 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SOX5 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SOX5 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SOX5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SOX5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sox5 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Sox5 30 |
|
||
Chicken (Gallus gallus) |
Aves | SOX5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SOX5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sox5 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Sox102F 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | egl-13 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
695077 | Pathogenic: Lamb-shaffer syndrome | 23,755,688(-) | C/T | NONSENSE | |
695078 | Pathogenic: Lamb-shaffer syndrome | 23,665,555(-) | G/A | NONSENSE | |
695079 | Pathogenic: Lamb-shaffer syndrome | 23,563,335(-) | G/A | NONSENSE,INTRON_VARIANT | |
695080 | Pathogenic: Lamb-shaffer syndrome | 23,563,280(-) | A/AG | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
695081 | Pathogenic: Lamb-shaffer syndrome; not provided | 23,563,269(-) | G/A | NONSENSE,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
lamb-shaffer syndrome |
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optic nerve hypoplasia, bilateral |
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colorectal cancer |
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campomelic dysplasia |
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chondrodysplasia, grebe type |
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