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This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]
TBR1 (T-Box Brain Transcription Factor 1) is a Protein Coding gene. Diseases associated with TBR1 include Intellectual Developmental Disorder With Autism And Speech Delay and Pervasive Developmental Disorder. Among its related pathways are Neuroscience. 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 EOMES.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH02J161416 | Promoter | 1 | EPDnew Ensembl | 600.7 | -0.4 | -396 | 1 | RNF2 ZNF7 EZH2 CBX2 ZFHX2 TFDP1 NFYC ZNF384 | TBR1 RNA5SP108 PSMD14 | |
GH02J161414 | Promoter | 1 | Ensembl | 600.7 | -1.6 | -1596 | 1 | HNRNPL ZNF692 ZIC2 RBFOX2 CTCF ZNF501 EZH2 GTF2F1 ZNF600 ZNF561 | TBR1 LINC01806 RNA5SP108 PSMD14 | |
GH02J161418 | Promoter | 0.4 | Ensembl | 600.7 | +0.4 | 404 | 0.2 | EZH2 | TBR1 ENSG00000224076 SLC4A10 | |
GH02J161238 | Promoter/Enhancer | 2.1 | VISTA UCNEbase FANTOM5 ENCODE CraniofacialAtlas | 13.6 | -177.7 | -177728 | 2.2 | TEAD4 PRDM10 POLR2A BACH1 LARP7 ZIC2 SMAD5 ZNF600 YY1 ZNF341 | lnc-RBMS1-10 lnc-RBMS1-9 TBR1 LINC01806 AHCTF1P1 SLC4A10 LOC101929512 PSMD14 ENSG00000235724 TANK | |
GH02J161417 | Promoter | 0.7 | Ensembl | 0.7 | +2.8 | 2804 | 0.2 | EZH2 MGA TFDP1 CBX2 POLR2A GABPB1 MXD4 SMARCA4 MXD3 ZNF580 | ENSG00000224076 TBR1 SLC4A10 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II 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:0001102 | RNA polymerase II activating transcription factor binding | IBA | 21873635 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 25232744 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0001661 | conditioned taste aversion | IEA | -- |
GO:0001708 | cell fate specification | IBA | 21873635 |
GO:0001947 | heart looping | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBR1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBR1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TBR1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbr1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tbr1 30 |
|
||
Chicken (Gallus gallus) |
Aves | TBR1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TBR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbr1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbr1b 30 31 |
|
OneToOne | |
tbr1 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | tbx-9 31 32 |
|
ManyToMany | |
tbx-8 31 32 |
|
ManyToMany | |||
tbx-43 31 |
|
ManyToMany | |||
tbx-37 31 |
|
ManyToMany | |||
tbx-38 31 |
|
ManyToMany | |||
tbx-11 31 |
|
ManyToMany | |||
tbx-34 31 |
|
ManyToMany | |||
tbx-35 31 |
|
ManyToMany | |||
tbx-30 31 |
|
ManyToMany | |||
tbx-42 31 |
|
ManyToMany | |||
tbx-40 31 |
|
ManyToMany | |||
tbx-39 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7001 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
680335 | Likely Benign: not provided | 161,416,671(+) | G/A | SYNONYMOUS_VARIANT | |
745072 | Likely Benign: not provided | 161,418,909(+) | C/T | SYNONYMOUS_VARIANT | |
778013 | Likely Benign: not provided | 161,420,228(+) | T/C | SYNONYMOUS_VARIANT | |
791154 | Benign: not provided | 161,416,464(+) | C/G | SYNONYMOUS_VARIANT | |
801771 | Likely Pathogenic: Autism 5 | 161,423,724(+) | TA/T | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3593155 | CNV | loss | 21293372 |
esv3593156 | CNV | gain | 21293372 |
nsv1003307 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
intellectual developmental disorder with autism and speech delay |
|
|
pervasive developmental disorder |
|
|
cortical malformations, occipital |
|
|
baker-gordon syndrome |
|
|
visual epilepsy |
|
|