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This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
SP7 (Sp7 Transcription Factor) is a Protein Coding gene. Diseases associated with SP7 include Osteogenesis Imperfecta, Type Xii and Osteogenesis Imperfecta, Type Iv. Among its related pathways are Mesenchymal Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DEAD/H-box RNA helicase binding. An important paralog of this gene is SP9.
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 | ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISS | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 18471237 |
GO:0005737 | cytoplasm | IDA | 18471237 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mesenchymal Stem Cells and Lineage-specific Markers |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001649 | osteoblast differentiation | ISS | 11792318 |
GO:0006357 | regulation of transcription by RNA polymerase II | ISS | 11792318 |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA | 18932205 |
GO:0060218 | hematopoietic stem cell differentiation | IDA | 18932205 |
GO:2000738 | positive regulation of stem cell differentiation | IDA | 18932205 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SP7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SP7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sp7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sp7 30 |
|
||
Dog (Canis familiaris) |
Mammalia | SP7 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | SP7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sp7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sp7 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Sp1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
667626 | Benign: not provided | 53,329,584(-) | G/A | INTRON_VARIANT | |
724912 | Likely Benign: not provided | 53,335,641(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
731363 | Likely Benign: not provided | 53,329,374(-) | G/A | MISSENSE_VARIANT | |
738019 | Likely Benign: not provided | 53,329,265(-) | G/A | SYNONYMOUS_VARIANT | |
744269 | Likely Benign: not provided | 53,328,577(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteogenesis imperfecta, type xii |
|
|
osteogenesis imperfecta, type iv |
|
|
sclerosteosis 1 |
|
|
ankylosis |
|
|
osteoporosis |
|