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The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
SIX5 (SIX Homeobox 5) is a Protein Coding gene. Diseases associated with SIX5 include Branchiootorenal Syndrome 2 and Branchiootorenal Syndrome. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is SIX4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IBA | 21873635 |
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:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005667 | transcription factor complex | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002088 | lens development in camera-type eye | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007286 | spermatid development | IEA | -- |
GO:0008285 | negative regulation of cell proliferation | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SIX5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SIX5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SIX5 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SIX5 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Six5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Six5 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | six4.3 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Six4 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636531 | Uncertain Significance: not provided | 45,766,618(-) | AGCAGGCACT/A | INFRAME_DELETION | |
668435 | Benign/Likely Benign: not provided | 45,766,917(-) | G/A | SYNONYMOUS_VARIANT | |
676044 | Likely Benign: not provided | 45,768,817(-) | C/T | MISSENSE_VARIANT | |
680210 | Likely Benign: not provided | 45,768,879(-) | C/G | FIVE_PRIME_UTR_VARIANT | |
681903 | Likely Benign: not provided | 45,768,352(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
branchiootorenal syndrome 2 |
|
|
branchiootorenal syndrome |
|
|
myotonic dystrophy |
|
|
branchiootorenal spectrum disorder |
|
|
branchiootic syndrome |
|
|