Tbx1 (T-box 1) - Rat Genome Database

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Gene: Tbx1 (T-box 1) Mus musculus
Analyze
Symbol: Tbx1
Name: T-box 1
RGD ID: 1317101
MGI Page MGI
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including outflow tract septum morphogenesis; positive regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; embryonic organ morphogenesis; and regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including alimentary system; branchial arch; ear; embryo mesenchyme; and heart. Used to study DiGeorge syndrome; autism spectrum disorder; chromosome 22q11.2 deletion syndrome, distal; otitis media; and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in several diseases, including DiGeorge syndrome; congenital heart disease (multiple); hypoparathyroidism; sensorineural hearing loss; and velocardiofacial syndrome. Orthologous to human TBX1 (T-box transcription factor 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: nmf21; nmf219; T-box protein 1; T-box transcription factor TBX1; testis-specific T-box protein
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391618,399,729 - 18,409,412 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1618,399,729 - 18,409,421 (-)EnsemblGRCm39 Ensembl
GRCm381618,580,979 - 18,590,671 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1618,580,979 - 18,590,671 (-)EnsemblGRCm38mm10GRCm38
MGSCv371618,581,806 - 18,587,062 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361618,495,276 - 18,500,532 (-)NCBIMGSCv36mm8
Celera1619,155,983 - 19,161,240 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1611.51NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
ameloblast differentiation  (IMP)
angiogenesis  (IMP)
anterior/posterior pattern specification  (IGI,IMP)
aorta morphogenesis  (IGI,IMP)
artery morphogenesis  (IGI,IMP)
blood vessel development  (IGI,IMP)
blood vessel morphogenesis  (IMP)
blood vessel remodeling  (IGI)
branching involved in blood vessel morphogenesis  (TAS)
cell fate specification  (IBA)
cell population proliferation  (IMP)
cellular response to fibroblast growth factor stimulus  (IMP)
cellular response to retinoic acid  (IEP)
cochlea morphogenesis  (IGI,IMP)
coronary artery morphogenesis  (IMP,TAS)
cranial skeletal system development  (IGI)
determination of left/right symmetry  (IMP)
ear morphogenesis  (IMP)
embryonic cranial skeleton morphogenesis  (IMP)
embryonic viscerocranium morphogenesis  (ISO,ISS)
enamel mineralization  (IMP)
epithelial cell proliferation  (IMP)
face morphogenesis  (IMP)
hard palate development  (IMP)
heart development  (IGI,IMP,ISO,ISS)
heart morphogenesis  (IMP)
inner ear morphogenesis  (IMP)
lymph vessel development  (IMP)
mesenchymal cell apoptotic process  (IMP)
mesenchymal cell proliferation  (IDA)
mesoderm development  (IMP)
middle ear morphogenesis  (IMP)
muscle cell fate commitment  (IMP)
muscle organ development  (IMP)
muscle organ morphogenesis  (IGI)
muscle tissue morphogenesis  (IMP)
negative regulation of cell differentiation  (IMP)
negative regulation of mesenchymal cell apoptotic process  (IGI)
negative regulation of muscle cell apoptotic process  (ISO)
negative regulation of receptor signaling pathway via JAK-STAT  (ISO)
negative regulation of transcription by RNA polymerase II  (IMP)
neural crest cell migration  (IMP)
neuron fate specification  (IGI,IMP)
odontogenesis of dentin-containing tooth  (IMP)
otic vesicle morphogenesis  (IMP)
outer ear morphogenesis  (IMP)
outflow tract morphogenesis  (IGI,IMP)
outflow tract septum morphogenesis  (IMP)
parathyroid gland development  (IMP,ISO,ISS)
pattern specification process  (IGI,IMP)
pharyngeal system development  (IGI,IMP,ISO,ISS)
positive regulation of cardiac muscle cell proliferation  (ISO)
positive regulation of cell cycle G1/S phase transition  (ISO)
positive regulation of cell population proliferation  (IMP)
positive regulation of DNA-templated transcription  (IDA,ISO)
positive regulation of epithelial cell proliferation  (IMP)
positive regulation of gene expression  (ISO)
positive regulation of MAPK cascade  (IMP)
positive regulation of mesenchymal cell proliferation  (IMP)
positive regulation of protein phosphorylation  (IMP)
positive regulation of secondary heart field cardioblast proliferation  (IDA)
positive regulation of tongue muscle cell differentiation  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,IMP)
regulation of animal organ morphogenesis  (IGI,IMP)
regulation of DNA-templated transcription  (IEA)
regulation of transcription by RNA polymerase II  (IBA,IGI)
retinoic acid receptor signaling pathway  (IMP)
semicircular canal morphogenesis  (IGI)
sensory perception of sound  (IMP)
social behavior  (IMP)
soft palate development  (ISO,ISS)
somatic stem cell population maintenance  (IMP)
thymus development  (IMP,ISO,ISS)
thyroid gland development  (IGI,IMP)
tongue morphogenesis  (IMP)
vagus nerve morphogenesis  (IMP)

Cellular Component
chromatin  (IBA)
nucleus  (IBA,IDA)

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
aberrant origin of the right subclavian artery  (IAGP)
abnormal accessory nerve morphology  (IAGP)
abnormal aortic arch development  (IAGP)
abnormal aortic arch morphology  (IAGP)
abnormal arcus anterior morphology  (IAGP)
abnormal artery development  (IAGP)
abnormal atrioventricular valve morphology  (IAGP)
abnormal auditory brainstem response  (IEA)
abnormal blood vessel morphology  (IAGP)
abnormal cardiac neural crest cell migration  (IAGP)
abnormal cardiac outflow tract development  (IAGP)
abnormal cardiovascular development  (IAGP)
abnormal cardiovascular system morphology  (IAGP)
abnormal cervical atlas morphology  (IAGP)
abnormal cervical axis morphology  (IAGP)
abnormal cervical vertebrae morphology  (IAGP)
abnormal cochlea morphology  (IAGP)
abnormal cochlear ganglion morphology  (IAGP)
abnormal common crus morphology  (IAGP)
abnormal conotruncus morphology  (IAGP)
abnormal conotruncus septation  (IAGP)
abnormal coronary vessel morphology  (IAGP)
abnormal cranial nerve morphology  (IAGP)
abnormal cranial neural crest cell migration  (IAGP)
abnormal craniofacial bone morphology  (IAGP)
abnormal craniofacial development  (IAGP)
abnormal craniofacial morphology  (IAGP)
abnormal cranium morphology  (IAGP)
abnormal crista ampullaris morphology  (IAGP)
abnormal dorsal aorta morphology  (IAGP)
abnormal ear development  (IAGP)
abnormal ear morphology  (IAGP)
abnormal ear shape  (IAGP)
abnormal endolymphatic duct morphology  (IAGP)
abnormal external auditory canal morphology  (IAGP)
abnormal eye morphology  (IEA)
abnormal facial morphology  (IAGP)
abnormal facial nerve morphology  (IAGP)
abnormal fetal atrioventricular canal morphology  (IAGP)
abnormal fourth pharyngeal arch artery morphology  (IAGP)
abnormal fourth pharyngeal arch morphology  (IAGP)
abnormal fourth pharyngeal pouch morphology  (IAGP)
abnormal glossopharyngeal ganglion morphology  (IAGP)
abnormal glossopharyngeal nerve morphology  (IAGP)
abnormal heart and great vessel attachment  (IAGP)
abnormal heart development  (IAGP)
abnormal heart morphology  (IAGP)
abnormal heart shape  (IAGP)
abnormal heart ventricle morphology  (IAGP)
abnormal hyoid bone morphology  (IAGP)
abnormal hypoglossal cord morphology  (IAGP)
abnormal incus morphology  (IAGP)
abnormal inner ear morphology  (IAGP)
abnormal interventricular septum morphology  (IAGP)
abnormal laryngeal muscle morphology  (IAGP)
abnormal lateral semicircular canal morphology  (IAGP)
abnormal lymphangiogenesis  (IAGP)
abnormal lymphatic vessel morphology  (IAGP)
abnormal malleus morphology  (IAGP)
abnormal mandibular nerve branching  (IAGP)
abnormal mesenchyme morphology  (IAGP)
abnormal middle ear morphology  (IAGP)
abnormal middle ear ossicle morphology  (IAGP)
abnormal motor capabilities/coordination/movement  (IAGP)
abnormal myogenesis  (IAGP)
abnormal neural crest cell migration  (IAGP)
abnormal neuron differentiation  (IAGP)
abnormal organ of Corti supporting cell differentiation  (IAGP)
abnormal organ of Corti supporting cell morphology  (IAGP)
abnormal otic capsule morphology  (IAGP)
abnormal outer ear morphology  (IAGP)
abnormal palatal mesenchymal cell proliferation  (IAGP)
abnormal palatal shelf fusion at midline  (IAGP)
abnormal palatal shelf size  (IAGP)
abnormal palate development  (IAGP)
abnormal palate morphology  (IAGP)
abnormal pancreas morphology  (IEA)
abnormal pharyngeal arch artery morphology  (IAGP)
abnormal pharyngeal arch morphology  (IAGP)
abnormal pharyngeal muscle morphology  (IAGP)
abnormal pharyngeal pouch morphology  (IAGP)
abnormal placenta morphology  (IEA)
abnormal posterior semicircular canal morphology  (IAGP)
abnormal response to novel object  (IAGP)
abnormal right subclavian artery morphology  (IAGP)
abnormal second pharyngeal arch artery morphology  (IAGP)
abnormal secondary palate development  (IAGP)
abnormal semicircular canal ampulla morphology  (IAGP)
abnormal semicircular canal morphology  (IAGP)
abnormal semilunar valve morphology  (IAGP)
abnormal sixth pharyngeal arch artery morphology  (IAGP)
abnormal sixth pharyngeal arch morphology  (IAGP)
abnormal skeleton morphology  (IAGP)
abnormal skin morphology  (IEA)
abnormal social/conspecific interaction behavior  (IAGP)
abnormal spatial working memory  (IAGP)
abnormal stapes morphology  (IAGP)
abnormal stria vascularis morphology  (IAGP)
abnormal strial marginal cell morphology  (IAGP)
abnormal subclavian artery morphology  (IAGP)
abnormal temporal bone morphology  (IAGP)
abnormal third pharyngeal arch artery morphology  (IAGP)
abnormal third pharyngeal arch morphology  (IAGP)
abnormal thymus development  (IAGP)
abnormal thyroid cartilage morphology  (IAGP)
abnormal trigeminal nerve morphology  (IAGP)
abnormal truncus arteriosus septation  (IAGP)
abnormal tympanic ring morphology  (IAGP)
abnormal upper incisor morphology  (IAGP)
abnormal vagus ganglion morphology  (IAGP)
abnormal vagus nerve morphology  (IAGP)
abnormal vertebral arch morphology  (IAGP)
abnormal vestibular saccule morphology  (IAGP)
abnormal vestibulocochlear ganglion morphology  (IAGP)
abnormal vestibulocochlear nerve morphology  (IAGP)
abnormal zygomatic arch morphology  (IAGP)
absent arcus anterior  (IAGP)
absent cochlea  (IAGP)
absent facial muscle  (IAGP)
absent fourth pharyngeal arch  (IAGP)
absent fourth pharyngeal arch artery  (IAGP)
absent inner ear  (IAGP)
absent inner ear vestibule  (IAGP)
absent lateral semicircular canal  (IAGP)
absent mandibular coronoid process  (IAGP)
absent masseter muscle  (IAGP)
absent middle ear ossicles  (IAGP)
absent outer ear  (IAGP)
absent parathyroid glands  (IAGP)
absent pharyngeal arch arteries  (IAGP)
absent pharyngeal arches  (IAGP)
absent pterygoid muscle  (IAGP)
absent second pharyngeal arch  (IAGP)
absent semicircular canals  (IAGP)
absent sixth pharyngeal arch  (IAGP)
absent sixth pharyngeal arch artery  (IAGP)
absent stapes  (IAGP)
absent strial marginal cells  (IAGP)
absent third pharyngeal arch  (IAGP)
absent third pharyngeal arch artery  (IAGP)
absent tubotympanic recess  (IAGP)
absent tympanic ring  (IAGP)
absent ultimobranchial body  (IAGP)
absent upper incisors  (IAGP)
absent vertebral body  (IAGP)
absent zygomatic arch  (IAGP)
anomalous pulmonary venous connection  (IAGP)
anophthalmia  (IEA)
anotia  (IAGP)
athymia  (IAGP)
atrial septal defect  (IAGP)
bidirectional circling  (IAGP)
cervical aortic arch  (IAGP)
chylous ascites  (IAGP)
circling  (IAGP)
cleft palate  (IAGP)
cleft secondary palate  (IAGP)
cochlear ganglion degeneration  (IAGP)
collapsed Reissner membrane  (IAGP)
common atrioventricular valve  (IAGP)
curly tail  (IAGP)
cyanosis  (IAGP)
deafness  (IAGP)
decreased embryo size  (IAGP)
decreased mitotic index  (IAGP)
decreased palatal shelf size  (IAGP)
decreased prepulse inhibition  (IAGP)
decreased tympanic ring size  (IAGP)
decreased vocalization  (IAGP)
dehydration  (IAGP)
dilated endolymphatic duct  (IAGP)
double aortic arch  (IAGP)
double outlet right ventricle  (IAGP)
ear lobe hypoplasia  (IAGP)
ectopic thymus  (IAGP)
edema  (IEA)
embryonic growth retardation  (IEA)
fourth pharyngeal arch artery hypoplasia  (IAGP)
fourth pharyngeal arch hypoplasia  (IAGP)
fusion of basioccipital and basisphenoid bone  (IAGP)
fusion of glossopharyngeal and vagus nerve  (IAGP)
fusion of vertebral bodies  (IAGP)
glossopharyngeal nerve hypoplasia  (IAGP)
head bobbing  (IEA)
head tilt  (IAGP)
hydrops fetalis  (IAGP)
hyoid bone hypoplasia  (IAGP)
hyperactivity  (IAGP)
increased apoptosis  (IAGP)
increased or absent threshold for auditory brainstem response  (IAGP)
increased palatal shelf size  (IAGP)
increased susceptibility to otitis media  (IAGP)
increased thigmotaxis  (IAGP)
increased vascular smooth muscle cell proliferation  (IAGP)
inner ear hypoplasia  (IAGP)
interrupted aortic arch  (IAGP)
interrupted aortic arch, type b  (IAGP)
kinked tail  (IAGP)
kyphosis  (IAGP)
lowered ear position  (IAGP)
lymphangiectasis  (IAGP)
malleus hypoplasia  (IAGP)
micrognathia  (IAGP)
microphthalmia  (IEA)
muscular ventricular septal defect  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
neonatal lethality, incomplete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
organ of Corti degeneration  (IAGP)
otic capsule hypoplasia  (IAGP)
otic vesicle hypoplasia  (IAGP)
overriding aortic valve  (IAGP)
palatal shelves fail to meet at midline  (IAGP)
perimembraneous ventricular septal defect  (IAGP)
persistence of hyaloid vascular system  (IEA)
persistent truncus arteriosus  (IAGP)
pharynx hypoplasia  (IAGP)
pharynx stenosis  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IEA)
preweaning lethality, incomplete penetrance  (IAGP)
respiratory failure  (IAGP)
retroesophageal right subclavian artery  (IAGP)
right aortic arch  (IAGP)
second pharyngeal arch hypoplasia  (IAGP)
sensorineural hearing loss  (IAGP)
short mandible  (IAGP)
short neck  (IAGP)
skin edema  (IAGP)
small cricoid cartilage  (IAGP)
small ears  (IAGP)
small otic vesicle  (IAGP)
small pharyngeal arch  (IAGP)
small scala media  (IAGP)
small second pharyngeal arch  (IAGP)
small thymus  (IAGP)
small thyroid cartilage  (IAGP)
small thyroid gland  (IAGP)
supravalvar pulmonary trunk stenosis  (IAGP)
temporal bone hypoplasia  (IAGP)
thin malleus neck  (IAGP)
thymus hypoplasia  (IAGP)
utricular degeneration  (IAGP)
vascular smooth muscle hypoplasia  (IAGP)
ventricular septal defect  (IAGP)
vestibular saccular degeneration  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness. Alghamdi M, etal., J Endocr Soc. 2019 Nov 29;4(2):bvz028. doi: 10.1210/jendso/bvz028. eCollection 2020 Feb 1.
2. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Arnold JS, etal., Development. 2006 Mar;133(5):977-87. doi: 10.1242/dev.02264. Epub 2006 Feb 1.
3. p53 Suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome. Caprio C and Baldini A, Proc Natl Acad Sci U S A. 2014 Sep 16;111(37):13385-90. doi: 10.1073/pnas.1401923111. Epub 2014 Sep 2.
4. Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. Chen J, etal., Neural Plast. 2016;2016:5836143. doi: 10.1155/2016/5836143. Epub 2016 Dec 26.
5. Deletion of the T-box transcription factor gene, Tbx1, in mice induces differential expression of genes associated with cleft palate in humans. Funato N and Yanagisawa H, Arch Oral Biol. 2018 Nov;95:149-155. doi: 10.1016/j.archoralbio.2018.08.001. Epub 2018 Aug 9.
6. Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia. Funato N, etal., Hum Mol Genet. 2015 Jan 15;24(2):424-35. doi: 10.1093/hmg/ddu458. Epub 2014 Sep 10.
7. TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome. Gao S, etal., Hum Mol Genet. 2015 Apr 15;24(8):2330-48. doi: 10.1093/hmg/ddu750. Epub 2015 Jan 2.
8. Clinical study of prenatal ultrasonography combined with T‑box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease. Guo B, etal., Mol Med Rep. 2018 May;17(5):7346-7350. doi: 10.3892/mmr.2018.8742. Epub 2018 Mar 14.
9. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. Guo C, etal., J Clin Invest. 2011 Apr;121(4):1585-95. doi: 10.1172/JCI44630.
10. A novel TBX1 missense mutation in patients with syndromic congenital heart defects. Jaouadi A, etal., Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28.
11. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Jerome LA and Papaioannou VE, Nat Genet. 2001 Mar;27(3):286-91.
12. Increased Tbx1 expression may play a role via TGFβ-Smad2/3 signaling pathway in acute kidney injury induced by gentamicin. Jiang H, etal., Int J Clin Exp Pathol. 2014 Mar 15;7(4):1595-605. eCollection 2014.
13. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Liao J, etal., Hum Mol Genet. 2004 Aug 1;13(15):1577-85. doi: 10.1093/hmg/ddh176. Epub 2004 Jun 9.
14. MGDs mouse GO annotations MGD data from the GO Consortium
15. MGD IEA MGD IEA
16. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
17. A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease. Pan Y, etal., Pediatr Cardiol. 2015 Oct;36(7):1400-10. doi: 10.1007/s00246-015-1173-x. Epub 2015 Apr 10.
18. Mouse MP Annotation Import Pipeline RGD automated import pipeline
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Stoller JZ and Epstein JA, Hum Mol Genet. 2005 Apr 1;14(7):885-92. Epub 2005 Feb 9.
22. The TBX1 Transcription Factor in Cardiac Remodeling After Myocardial Infarction. Sánchez-Más J, etal., Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1042-1050. doi: 10.1016/j.rec.2016.04.033. Epub 2016 Jul 12.
23. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Vermot J, etal., Proc Natl Acad Sci U S A 2003 Feb 18;100(4):1763-8. Epub 2003 Jan 31.
24. MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Voss AK, etal., Dev Cell. 2012 Sep 11;23(3):652-63. doi: 10.1016/j.devcel.2012.07.010. Epub 2012 Aug 23.
25. Genetic analysis of the TBX1 gene promoter in ventricular septal defects. Wang H, etal., Mol Cell Biochem. 2012 Nov;370(1-2):53-8. doi: 10.1007/s11010-012-1397-5. Epub 2012 Jul 17.
26. Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus. Xu YJ, etal., BMC Med Genet. 2011 Dec 21;12:169. doi: 10.1186/1471-2350-12-169.
Additional References at PubMed
PMID:7920656   PMID:8585934   PMID:8853987   PMID:8878690   PMID:9060415   PMID:9119393   PMID:9250875   PMID:9268629   PMID:9337409   PMID:9405660   PMID:9521878   PMID:9740669  
PMID:9774969   PMID:10337614   PMID:10349636   PMID:10704284   PMID:10963672   PMID:11024289   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11239417   PMID:11242049   PMID:11412027  
PMID:11709542   PMID:11804793   PMID:11971873   PMID:12223415   PMID:12223416   PMID:12223417   PMID:12231626   PMID:12441304   PMID:12464426   PMID:12466851   PMID:12477932   PMID:12533514  
PMID:12539040   PMID:12617845   PMID:12810603   PMID:12812790   PMID:12858556   PMID:12913075   PMID:12915323   PMID:12950083   PMID:14614146   PMID:14975726   PMID:15064766   PMID:15084464  
PMID:15175244   PMID:15385444   PMID:15469978   PMID:15581866   PMID:15618518   PMID:15652707   PMID:15778864   PMID:15789410   PMID:15817220   PMID:15843409   PMID:15882861   PMID:15996652  
PMID:16109395   PMID:16141072   PMID:16141073   PMID:16141220   PMID:16221730   PMID:16258075   PMID:16284121   PMID:16365290   PMID:16399080   PMID:16444712   PMID:16452098   PMID:16530750  
PMID:16556915   PMID:16586352   PMID:16600992   PMID:16602821   PMID:16684884   PMID:16687132   PMID:16696966   PMID:16720879   PMID:16783635   PMID:16839542   PMID:16914493   PMID:17000704  
PMID:17047027   PMID:17074316   PMID:17097888   PMID:17107996   PMID:17117436   PMID:17164259   PMID:17238155   PMID:17286298   PMID:17321697   PMID:17344228   PMID:17382312   PMID:17384148  
PMID:17442300   PMID:17515859   PMID:17526730   PMID:17610275   PMID:17652354   PMID:17683524   PMID:17825816   PMID:17916582   PMID:18039967   PMID:18082678   PMID:18231833   PMID:18287559  
PMID:18328475   PMID:18332117   PMID:18334251   PMID:18356246   PMID:18572158   PMID:18583714   PMID:18703040   PMID:18816853   PMID:18816858   PMID:18848976   PMID:19178302   PMID:19198652  
PMID:19233155   PMID:19235731   PMID:19247433   PMID:19253341   PMID:19299468   PMID:19389367   PMID:19476657   PMID:19531352   PMID:19700621   PMID:19745164   PMID:19805316   PMID:19855134  
PMID:20018673   PMID:20110535   PMID:20122914   PMID:20129917   PMID:20214979   PMID:20215350   PMID:20299672   PMID:20346939   PMID:20439995   PMID:20463296   PMID:20501333   PMID:20534536  
PMID:20549734   PMID:20685737   PMID:20699298   PMID:20736290   PMID:20807528   PMID:20807544   PMID:20807701   PMID:20816801   PMID:20843830   PMID:20939858   PMID:21107579   PMID:21123999  
PMID:21145505   PMID:21149574   PMID:21173260   PMID:21177346   PMID:21267068   PMID:21382375   PMID:21438027   PMID:21512031   PMID:21664901   PMID:21757651   PMID:21821099   PMID:21831920  
PMID:21873635   PMID:21908517   PMID:22116936   PMID:22164283   PMID:22207710   PMID:22219655   PMID:22275070   PMID:22318627   PMID:22367967   PMID:22371266   PMID:22381690   PMID:22396765  
PMID:22438823   PMID:22495305   PMID:22629441   PMID:22674535   PMID:22842189   PMID:22972661   PMID:22982415   PMID:23011393   PMID:23077214   PMID:23093675   PMID:23112163   PMID:23261931  
PMID:23606270   PMID:23642587   PMID:23797856   PMID:23934214   PMID:23945394   PMID:23971992   PMID:24009395   PMID:24068957   PMID:24335256   PMID:24356861   PMID:24357327   PMID:24564535  
PMID:24680892   PMID:24705356   PMID:24727668   PMID:24797903   PMID:24812002   PMID:24821700   PMID:24924197   PMID:24996922   PMID:25053428   PMID:25178196   PMID:25190705   PMID:25220152  
PMID:25242040   PMID:25249461   PMID:25336743   PMID:25371366   PMID:25410658   PMID:25452432   PMID:25452572   PMID:25605943   PMID:25670795   PMID:25912687   PMID:25915623   PMID:25986147  
PMID:25997579   PMID:26284287   PMID:26295701   PMID:26382615   PMID:26387456   PMID:26577899   PMID:26689739   PMID:26708418   PMID:26755698   PMID:27005988   PMID:27022145   PMID:27253890  
PMID:27256596   PMID:27633995   PMID:28172500   PMID:28173146   PMID:28346476   PMID:28357999   PMID:28438970   PMID:28687930   PMID:28754980   PMID:28838968   PMID:28884822   PMID:29217752  
PMID:29367466   PMID:29409032   PMID:29509905   PMID:29534062   PMID:29866044   PMID:29956664   PMID:30008200   PMID:30016433   PMID:30087351   PMID:30154444   PMID:30166330   PMID:30408103  
PMID:30504125   PMID:30543152   PMID:30578278   PMID:30787001   PMID:30933971   PMID:31180501   PMID:31341279   PMID:31412026   PMID:31422678   PMID:31444215   PMID:31535973   PMID:31550482  
PMID:31562240   PMID:31758944   PMID:31776260   PMID:31928974   PMID:32014863   PMID:32041892   PMID:32105214   PMID:32107392   PMID:32240964   PMID:32442036   PMID:32466118   PMID:32467237  
PMID:32804075   PMID:32866472   PMID:32901287   PMID:32901292   PMID:32951265   PMID:33066956   PMID:33328221   PMID:33348080   PMID:33414188   PMID:33529466   PMID:33608392   PMID:33795231  
PMID:34050709   PMID:34103494   PMID:34124068   PMID:34332615   PMID:34487959   PMID:34552467   PMID:34643182   PMID:34737458   PMID:34789765   PMID:35296311   PMID:35559672   PMID:35620058  
PMID:35733999   PMID:35946435   PMID:35970860   PMID:36036218   PMID:36136514   PMID:36521641   PMID:36790128   PMID:36941249   PMID:37052590   PMID:37756602   PMID:37852970   PMID:38048357  


Genomics

Comparative Map Data
Tbx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391618,399,729 - 18,409,412 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1618,399,729 - 18,409,421 (-)EnsemblGRCm39 Ensembl
GRCm381618,580,979 - 18,590,671 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1618,580,979 - 18,590,671 (-)EnsemblGRCm38mm10GRCm38
MGSCv371618,581,806 - 18,587,062 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361618,495,276 - 18,500,532 (-)NCBIMGSCv36mm8
Celera1619,155,983 - 19,161,240 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1611.51NCBI
TBX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,756,703 - 19,783,593 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,756,703 - 19,783,593 (+)EnsemblGRCh38hg38GRCh38
GRCh372219,744,226 - 19,771,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,124,226 - 18,151,116 (+)NCBINCBI36Build 36hg18NCBI36
Build 342218,118,779 - 18,129,409NCBI
Celera223,596,280 - 3,623,183 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef223,364,192 - 3,390,621 (+)NCBIHuRef
CHM1_12219,744,073 - 19,770,823 (+)NCBICHM1_1
T2T-CHM13v2.02220,133,557 - 20,160,463 (+)NCBIT2T-CHM13v2.0
Tbx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81195,913,610 - 95,923,392 (+)NCBIGRCr8
mRatBN7.21182,409,275 - 82,419,058 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,409,275 - 82,418,380 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1191,138,847 - 91,147,990 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01183,800,048 - 83,809,194 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01182,853,569 - 82,862,708 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01186,552,022 - 86,561,647 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1186,552,022 - 86,560,969 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01189,651,955 - 89,661,553 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41184,400,980 - 84,410,631 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11184,445,104 - 84,451,228 (+)NCBI
Celera1181,184,983 - 81,193,848 (+)NCBICelera
Cytogenetic Map11q23NCBI
Tbx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544218,319,762 - 18,325,337 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544218,320,674 - 18,327,062 (-)NCBIChiLan1.0ChiLan1.0
TBX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22329,386,796 - 29,405,593 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12231,934,451 - 31,954,427 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0222,521,080 - 2,541,267 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12218,192,954 - 18,213,786 (+)NCBIpanpan1.1PanPan1.1panPan2
TBX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12629,529,071 - 29,533,240 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2629,528,878 - 29,532,784 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2629,486,387 - 29,494,624 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02630,932,031 - 30,939,925 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2630,929,923 - 30,939,205 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12628,979,960 - 28,987,853 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02628,605,398 - 28,613,298 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02629,690,874 - 29,698,814 (-)NCBIUU_Cfam_GSD_1.0
Tbx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118139,083,586 - 139,092,022 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366193,664,468 - 3,670,525 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366193,662,567 - 3,670,470 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1451,289,321 - 51,296,725 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11451,289,376 - 51,297,110 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TBX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1195,980,114 - 5,986,313 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl195,980,587 - 5,987,244 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666085941,518 - 947,925 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624747388,904 - 395,098 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624747386,763 - 395,515 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:235
Count of miRNA genes:203
Interacting mature miRNAs:221
Transcripts:ENSMUST00000009241
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
4141060Pbwg19_mpostnatal body weight growth 19 (mouse)Not determined16120780888Mouse
1300632Loca2_mlocomotor activity 2 (mouse)Not determined16122500574Mouse
10043879Adip25_madiposity 25 (mouse)Not determined16122520318Mouse
1301575Tanidd3_mtally ho associated non-insulin dependednt diabetes mellitus 3 (mouse)Not determined16122897739Mouse
4141468Nhdlq10_mnon-HDL QTL 10 (mouse)Not determined16124263853Mouse
1301970Heal11_mwound healing/regeneration 11 (mouse)Not determined16124263853Mouse
1301384Dice1_mdetermination of interleukin 4 commitment 1 (mouse)Not determined16128434358Mouse
10402497Lmr23_mleishmaniasis resistance 23 (mouse)Not determined16129674200Mouse
1301559Bbaa19_mB.burgdorferi-associated arthritis 19 (mouse)Not determined16130066977Mouse
10412289Ppsl_mplasma P-selectin levels (mouse)Not determined16130814572Mouse
27095908Scvln7_msacral vertebrae length 2, 5 week (mouse)16331786439820362Mouse
27226768Tibl9_mtibia length 9, 5 week (mouse)16331786451420363Mouse
27226785Feml12_mfemur length 12, 5 week (mouse)16331786464620363Mouse
26884432Zlq7_mzygomatic length QTL 7, 10 week (mouse)16381786464620363Mouse
38501069Tip4_mtuberculosis immunophenotype 4, IFN-g level (mouse)16431786444520363Mouse
1301443Mopkd2_mmodifier of polycystic kidney disease progression 2 (mouse)Not determined16464631438646414Mouse
1300656Bgeq15_mbody growth early QTL 15 (mouse)Not determined16577525239775440Mouse
1301945Skl7_mskeletal size (tail length) 7 (mouse)Not determined16577525239775440Mouse
1300943Skts9_mskin tumor susceptibility 9 (mouse)Not determined16577525239775440Mouse
1300987Skull23_mskull morphology 23 (mouse)Not determined16577525239775440Mouse
4141010Bbq1_mbrain and behavior QTL 1 (mouse)Not determined16647700935021216Mouse
1357763Lp1_mlymphocyte proliferation 1 (mouse)Not determined16654297965466552Mouse
4142460Nilac10_mnicotine induced locomotor activity 10 (mouse)Not determined16713690629225471Mouse
11251724Ewc6_methanol withdrawal and consumption 6 (mouse)16822605242226052Mouse
26884376Skwq4_mskull length QTL 4, 5 week (mouse)16841786490896888Mouse
10043978Obq35_mobesity QTL 35 (mouse)Not determined16988163143881631Mouse
1301086Lprm5_mlymphoproliferation modifier 5 (mouse)Not determined161184882445848923Mouse
1301841Lrnx9_mlearning-contextual 9 (mouse)Not determined161222536046225471Mouse
15092082Igly9_mIgG glycosylation 9, GP17b (mouse)161477522320103513Mouse
10045614Rapop6_mradiation-induced apoptosis 6 (mouse)Not determined161480292148803032Mouse
4142236Pstc4_mperiosteal circumference 4 (mouse)Not determined161552290949523112Mouse

Markers in Region
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
MGSCv371618,583,560 - 18,584,249UniSTSGRCm37
MGSCv371618,584,187 - 18,585,156UniSTSGRCm37
Celera1619,157,738 - 19,158,427UniSTS
Celera1619,158,365 - 19,159,334UniSTS
Cytogenetic Map16A3UniSTS
cM Map1611.35UniSTS
cM Map1611.35UniSTS
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381618,583,467 - 18,584,156UniSTSGRCm38
MGSCv371618,583,560 - 18,584,249UniSTSGRCm37
Celera1619,157,738 - 19,158,427UniSTS
Cytogenetic Map16A3UniSTS
cM Map1611.35UniSTS
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16A3UniSTS
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16A3UniSTS
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16A3UniSTS
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381618,584,094 - 18,585,063UniSTSGRCm38
MGSCv371618,584,187 - 18,585,156UniSTSGRCm37
Celera1619,158,365 - 19,159,334UniSTS
Cytogenetic Map16A3UniSTS
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16A3UniSTS
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16A3UniSTS
Tbx1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16A3UniSTS
Cytogenetic Map16B1-B3UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001285472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001285476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001373938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_011532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006521978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006521979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF326960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK029096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC145636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSMUST00000009241   ⟹   ENSMUSP00000009241
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1618,400,454 - 18,409,421 (-)Ensembl
GRCm38.p6 Ensembl1618,581,704 - 18,590,671 (-)Ensembl
RefSeq Acc Id: ENSMUST00000232143   ⟹   ENSMUSP00000155894
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1618,400,554 - 18,405,719 (-)Ensembl
GRCm38.p6 Ensembl1618,581,804 - 18,586,969 (-)Ensembl
RefSeq Acc Id: ENSMUST00000232335   ⟹   ENSMUSP00000156061
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1618,399,729 - 18,405,719 (-)Ensembl
GRCm38.p6 Ensembl1618,580,979 - 18,586,969 (-)Ensembl
RefSeq Acc Id: ENSMUST00000232557
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1618,399,730 - 18,402,078 (-)Ensembl
GRCm38.p6 Ensembl1618,580,980 - 18,583,328 (-)Ensembl
RefSeq Acc Id: ENSMUST00000232589   ⟹   ENSMUSP00000156125
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1618,405,294 - 18,407,558 (-)Ensembl
GRCm38.p6 Ensembl1618,586,544 - 18,588,808 (-)Ensembl
RefSeq Acc Id: NM_001285472   ⟹   NP_001272401
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391618,399,729 - 18,409,412 (-)NCBI
GRCm381618,581,704 - 18,590,671 (-)NCBI
Celera1619,155,974 - 19,164,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001285476   ⟹   NP_001272405
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391618,399,729 - 18,405,744 (-)NCBI
GRCm381618,581,704 - 18,586,969 (-)NCBI
Celera1619,155,974 - 19,164,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001373938   ⟹   NP_001360867
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391618,399,729 - 18,407,649 (-)NCBI
GRCm381618,580,979 - 18,588,899 (-)NCBI
Sequence:
RefSeq Acc Id: NM_011532   ⟹   NP_035662
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391618,399,729 - 18,405,744 (-)NCBI
GRCm381618,581,704 - 18,586,969 (-)NCBI
MGSCv371618,581,806 - 18,587,062 (-)RGD
Celera1619,155,974 - 19,164,943 (-)NCBI
cM Map16 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006521978   ⟹   XP_006522041
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391618,400,460 - 18,407,502 (-)NCBI
GRCm381618,581,710 - 18,588,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006521979   ⟹   XP_006522042
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391618,400,460 - 18,407,636 (-)NCBI
GRCm381618,581,710 - 18,588,909 (-)NCBI
Sequence:
RefSeq Acc Id: NP_035662   ⟸   NM_011532
- Peptide Label: isoform 1
- UniProtKB: Q99P22 (UniProtKB/Swiss-Prot),   Q99MP0 (UniProtKB/Swiss-Prot),   Q60706 (UniProtKB/Swiss-Prot),   P70323 (UniProtKB/Swiss-Prot),   B9EII4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001272401   ⟸   NM_001285472
- Peptide Label: isoform 2
- UniProtKB: Q99P22 (UniProtKB/Swiss-Prot),   Q99MP0 (UniProtKB/Swiss-Prot),   Q60706 (UniProtKB/Swiss-Prot),   P70323 (UniProtKB/Swiss-Prot),   F6ZP09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001272405   ⟸   NM_001285476
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_006522042   ⟸   XM_006521979
- Peptide Label: isoform X1
- UniProtKB: Q99P22 (UniProtKB/Swiss-Prot),   Q99MP0 (UniProtKB/Swiss-Prot),   Q60706 (UniProtKB/Swiss-Prot),   P70323 (UniProtKB/Swiss-Prot),   F6ZP09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006522041   ⟸   XM_006521978
- Peptide Label: isoform X1
- UniProtKB: Q99P22 (UniProtKB/Swiss-Prot),   Q99MP0 (UniProtKB/Swiss-Prot),   Q60706 (UniProtKB/Swiss-Prot),   P70323 (UniProtKB/Swiss-Prot),   F6ZP09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001360867   ⟸   NM_001373938
- Peptide Label: isoform 4
- UniProtKB: Q99P22 (UniProtKB/Swiss-Prot),   Q99MP0 (UniProtKB/Swiss-Prot),   Q60706 (UniProtKB/Swiss-Prot),   P70323 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSMUSP00000009241   ⟸   ENSMUST00000009241
RefSeq Acc Id: ENSMUSP00000155894   ⟸   ENSMUST00000232143
RefSeq Acc Id: ENSMUSP00000156061   ⟸   ENSMUST00000232335
RefSeq Acc Id: ENSMUSP00000156125   ⟸   ENSMUST00000232589
Protein Domains
T-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P70323-F1-model_v2 AlphaFold P70323 1-479 view protein structure

Promoters
RGD ID:6847329
Promoter ID:MM_ACW:20029
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lung
Transcripts:TBX1.DSEP07-UNSPLICED
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361618,581,561 - 18,582,162 (-)MPROMDB
RGD ID:6827549
Promoter ID:MM_KWN:20398
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lung
Transcripts:NM_011532
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361618,586,411 - 18,586,911 (-)MPROMDB
RGD ID:8685684
Promoter ID:EPDNEW_M20873
Type:multiple initiation site
Name:Tbx1_1
Description:Mus musculus T-box 1 , transcript variant 2, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381618,586,994 - 18,587,054EPDNEW
RGD ID:6827550
Promoter ID:MM_KWN:20400
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lung
Transcripts:UC007YOH.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361618,590,361 - 18,590,861 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:98493 AgrOrtholog
Ensembl Genes ENSMUSG00000009097 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000009241 ENTREZGENE
  ENSMUST00000009241.7 UniProtKB/TrEMBL
  ENSMUST00000232143.2 UniProtKB/TrEMBL
  ENSMUST00000232335 ENTREZGENE
  ENSMUST00000232335.2 UniProtKB/TrEMBL
  ENSMUST00000232589.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-box_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-box_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:21380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:98493 ENTREZGENE
NCBI Gene 21380 ENTREZGENE
PANTHER PTHR11267 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-BOX TRANSCRIPTION FACTOR TBX1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Tbx1 PhenoGen
PRINTS TBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBOX_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A338P6A8_MOUSE UniProtKB/TrEMBL
  A0A338P6V6_MOUSE UniProtKB/TrEMBL
  B9EII4 ENTREZGENE, UniProtKB/TrEMBL
  F6ZP09 ENTREZGENE, UniProtKB/TrEMBL
  P70323 ENTREZGENE
  Q60706 ENTREZGENE
  Q99MP0 ENTREZGENE
  Q99P22 ENTREZGENE
  TBX1_MOUSE UniProtKB/Swiss-Prot
UniProt Secondary Q60706 UniProtKB/Swiss-Prot
  Q99MP0 UniProtKB/Swiss-Prot
  Q99P22 UniProtKB/Swiss-Prot