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This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
TBX15 (T-Box Transcription Factor 15) is a Protein Coding gene. Diseases associated with TBX15 include Cousin Syndrome and Acromegaloid Facial Appearance Syndrome. 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 TBX18.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J118981 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 255.5 | +3.3 | 3309 | 9 | ZNF395 VEZF1 CBX8 NRF1 ZBTB33 ZNF589 ZNF148 L3MBTL2 ZNF584 BRD4 | TBX15 WARS2 LOC105378933 WARS2-AS1 HSALNG0006456 SPAG17 | |
GH01J119000 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE dbSUPER | 250.4 | -12.0 | -11977 | 2.5 | MCM3 CEBPB ZNF395 VEZF1 GABPA FOSL1 PRDM10 JUND CBX8 ZNF589 | ENSG00000239216 LOC105378933 LOC107985191 TBX15 WARS2 | |
GH01J118990 | Enhancer | 0.5 | ENCODE dbSUPER | 250.7 | -1.4 | -1397 | 0.2 | CBX8 EZH2 | TBX15 HSALNG0006457 WARS2 | |
GH01J119397 | Enhancer | 0.4 | ENCODE | 4.4 | -408.6 | -408575 | 1.6 | FOXA2 ESRRA HNF4A ZNF740 | HAO2 HAO2-IT1 TBX15 HSALNG0006489 lnc-HSD3B2-1 HSD3B2 | |
GH01J119115 | Enhancer | 0.3 | Ensembl | 4.5 | -126.9 | -126945 | 2.6 | SPI1 EZH2 | WARS2 WARS2-AS1 TBX15 piR-50852-005 lnc-TBX15-4 RBMX2P3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0090571 | RNA polymerase II transcription repressor complex | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001708 | cell fate specification | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0048701 | embryonic cranial skeleton morphogenesis | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBX15 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBX15 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBX15 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbx15 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC500213 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TBX15 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TBX15 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TBX15 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbx15 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbx15 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mls-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14222 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs140463861 | Likely Benign: not provided | 118,923,505(-) |
C/G NM_001330677.2(TBX15):c.792G>C (p.Gly264=) |
SYNONYMOUS | |
rs140670116 | Benign/Likely Benign: not specified; not provided | 118,923,460(-) |
T/C NM_001330677.2(TBX15):c.837A>G (p.Thr279=) |
SYNONYMOUS | |
rs141002143 | Likely Benign: not specified; not provided | 118,899,072(-) |
C/T NM_001330677.2(TBX15):c.980G>A (p.Arg327His) |
MISSENSE | |
rs143725585 | Likely Benign: not provided | 118,885,176(-) |
C/T NM_001330677.2(TBX15):c.1365G>A (p.Ser455=) |
SYNONYMOUS | |
rs144291418 | Uncertain Significance: Pelviscapular dysplasia; not provided | 118,885,216(-) |
C/T NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv25417 | CNV | loss | 19812545 |
esv2675423 | CNV | deletion | 23128226 |
esv3587336 | CNV | loss | 21293372 |
esv3587338 | CNV | loss | 21293372 |
nsv160473 | CNV | deletion | 16902084 |
nsv506958 | OTHER | sequence alteration | 20534489 |
nsv524681 | CNV | gain | 19592680 |
nsv831181 | CNV | gain | 17160897 |
nsv997707 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cousin syndrome |
|
|
acromegaloid facial appearance syndrome |
|
|
ulnar-mammary syndrome |
|
|
brachydactyly |
|
|
strabismus |
|
|