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This intronless 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 protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
SOX11 (SRY-Box Transcription Factor 11) is a Protein Coding gene. Diseases associated with SOX11 include Coffin-Siris Syndrome 9 and Coffin-Siris Syndrome 1. Among its related pathways are Preimplantation Embryo and ERK Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is SOX4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IEA,ISS | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 21124928 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IEA,IDA | 19808959 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 17934069 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005667 | transcription factor complex | IBA | 21873635 |
GO:0005737 | cytoplasm | IDA | 17934069 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | ERK Signaling |
Molecular Mechanisms of Cancer
.51
|
|
2 | Preimplantation Embryo |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IDA | 19808959 |
GO:0001501 | skeletal system development | IEA,ISS | -- |
GO:0001822 | kidney development | IEA | -- |
GO:0001841 | neural tube formation | IEA,ISS | -- |
GO:0002089 | lens morphogenesis in camera-type eye | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SOX11 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sox11 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sox11 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SOX11 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SOX11 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SOX11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SOX11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox11 30 |
|
||
Str.6881 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.891 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sox11a 30 31 |
|
OneToMany | |
sox11b 31 |
|
OneToMany | |||
-- 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11903 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sox14 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sem-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10865 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666571 | Likely Pathogenic: Mental retardation, autosomal dominant 27 | 5,693,936(+) | CA/C | FRAMESHIFT_VARIANT | |
715893 | Likely Benign: not provided | 5,692,784(+) | G/T | SYNONYMOUS_VARIANT | |
718393 | Likely Benign: not provided | 5,693,258(+) | G/A | SYNONYMOUS_VARIANT | |
722036 | Likely Benign: not provided | 5,693,873(+) | C/T | SYNONYMOUS_VARIANT | |
722348 | Likely Benign: not provided | 5,693,345(+) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
coffin-siris syndrome 9 |
|
|
coffin-siris syndrome 1 |
|
|
mantle cell lymphoma |
|
|
burkitt lymphoma |
|
|
charge syndrome |
|
|