ENSMUSG00000030699


Mus musculus

Features
Gene ID: ENSMUSG00000030699
  
Biological name :Tbx6
  
Synonyms : P70327 / T-box transcription factor TBX6 / Tbx6
  
Possible biological names infered from orthology : O95947 / T-box 6
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F3
Gene start: 126781483
Gene end: 126785560
  
Corresponding Affymetrix probe sets: 10557488 (MoGene1.0st)   1449868_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000091579
Ensembl peptide - ENSMUSP00000126418
NCBI entrez gene - 21389     See in Manteia.
MGI - MGI:102539
RefSeq - NM_011538
RefSeq Peptide - NP_035668
swissprot - P70327
Ensembl - ENSMUSG00000030699
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tbx6ENSDARG00000011785Danio rerio
 TBX6ENSGALG00000006374Gallus gallus
 TBX6ENSG00000149922Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tbx2 / Q60707 / T-box transcription factor TBX2 / Q13207* / T-box 2*ENSMUSG0000000009335
Tbx3 / P70324 / T-box 3 / O15119*ENSMUSG0000001860434
Tbx5 / P70326 / T-box 5 / Q99593*ENSMUSG0000001826331
Tbx1 / T-box 1 / O43435*ENSMUSG0000000909729
Tbx18 / T-box 18 / O95935*ENSMUSG0000003241929
Tbx15 / O70306 / T-box transcription factor TBX15 / Q96SF7* / T-box 15*ENSMUSG0000002786829
Tbx4 / P70325 / T-box 4 / P57082*ENSMUSG0000000009429
Tbx10 / Q810F8 / T-box transcription factor TBX10 / O75333* / T-box 10*ENSMUSG0000003747728
Tbx20 / Q9ES03 / T-box transcription factor TBX20 / Q9UMR3* / T-box 20*ENSMUSG0000003196527
Tbx22 / Q8K402 / T-box 22 / Q9Y458*ENSMUSG0000003124127


Protein motifs (from Interpro)
Interpro ID Name
 IPR001699  Transcription factor, T-box
 IPR002070  Transcription factor, Brachyury
 IPR008967  p53-like transcription factor, DNA-binding
 IPR018186  Transcription factor, T-box, conserved site
 IPR036960  T-box superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001707 mesoderm formation IMP
 biological_processGO:0001708 cell fate specification IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0010977 negative regulation of neuron projection development IGI
 biological_processGO:0014043 negative regulation of neuron maturation IGI
 biological_processGO:0023019 signal transduction involved in regulation of gene expression IDA
 biological_processGO:0032525 somite rostral/caudal axis specification IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 cellular_componentGO:0005634 nucleus IDA
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding IPI
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IPI
 molecular_functionGO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding IDA
 molecular_functionGO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding IC
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000154 rib fusion "appearance of one or more ribs as a single structure" [J:62022, J:62023]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
Show

Allelic Composition: Thrbtm3Few/Thrbtm3Few
Genetic Background: involves: 129 * C57BL/6

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0000592 short tail "reduced length of tail compared to control " [J:55583]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: F5tm2Dgi/F5+,Serpina10tm1Gjb/Serpina10tm1Gjb
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0001680 abnormal mesoderm development "failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbx6tm1Pa/Tbx6tm1Pa
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptenm1un/Ptenm1un
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

Allelic Composition: Tbx6tm1Pa/Tbx6tm1Pa
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Sox2tm1.1Knd/Sox2tm1.1Knd,Tbx6tm1Pa/Tbx6tm1Pa
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002825 abnormal notochord "malformation or absence of the axial fibrocellular cord in embryos around which develops the vertebral primordia" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0003047 abnormal thoracic vertebrae morphology "malformation of any or all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0003048 abnormal cervical vertebrae morphology "malformation of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0003049 abnormal lumbar vertebrae morphology "malformation of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0003119 abnormal digestive system development "dysmorphology of the organ system that converts ingested food to nutrients and energy" [smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Thrbtm3Few/Thrbtm3Few
Genetic Background: involves: 129 * C57BL/6

 MP:0003401 enlarged tail bud "increased size or area of the primordial region of the embryo that arises to form the tail of the adult" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Thrbtm3Few/Thrbtm3Few
Genetic Background: involves: 129 * C57BL/6

 MP:0003604 single kidney 
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004131 abnormal embryonic ciliary morphology "any structural malformation of the earliest cilia of the mouse embryo found on the cells of the embryonic node" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: F5tm2Dgi/F5+,Serpina10tm1Gjb/Serpina10tm1Gjb
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0004190 abnormal direction of embryo turning "axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage (Mus E8.5-E9.5); clockwise rotation is frequently associated with heart and visceral defects" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development"]
Show

Allelic Composition: F5tm2Dgi/F5+,Serpina10tm1Gjb/Serpina10tm1Gjb
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: F5tm2Dgi/F5+,Serpina10tm1Gjb/Serpina10tm1Gjb
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0004600 abnormal vertebral transverse process "any structural anomaly of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004602 abnormal vertebral articular process "any structural anomaly of the bilateral flat projections that arise from the junctions of the pedicles and laminae" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004607 abnormal cervical atlas morphology "any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004612 fusion of vertebral bodies "improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004613 fusion of vertebral arches "improper union of the dorsal part of adjacent vertebra" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004620 cervical vertebral fusion "the union of one or more cervical vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004669 enlarged vertebral body "increased size of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004670 small vertebral body "decreased size of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0005226 abnormal vertebral arch development "anomalous formation of the posterior projection from the body of a vertebra that encloses the vertebral foramen " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0005227 abnormal vertebral body development "anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0005229 abnormal intervertebral disk development "anomalous fromation of the cartilagenous and gelatinous structure found between vertebrae" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0006281 abnormal tail development "anomaly in the formation of the tail" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0008029 abnormal paraxial mesoderm "failure or abnormality in the formation of the mesoderm lying at either side of the midline embryonic notochord; on segmentation, paraxial mesoderm forms the paired somites" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm3Few/Thrbtm3Few
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Tbx6dd1/Tbx6dd1
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0008817 hematoma "an abnormal localized accumulation of clotted or partially clotted blood in an organ or a soft tissue space as a result of localized hemorrhage" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm3Few/Thrbtm3Few
Genetic Background: involves: 129 * C57BL/6

 MP:0008933 abnormal embryonic cilium physiology "any functional anomaly of the earliest cilia of the mouse embryo found on the cells of the embryonic node" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: F5tm2Dgi/F5+,Serpina10tm1Gjb/Serpina10tm1Gjb
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0009768 impaired somite development "atypical process of somite formation with the result of fewer or none of these cell masses being formed" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm3Few/Thrbtm3Few
Genetic Background: involves: 129 * C57BL/6

 MP:0010662 abnormal intersomitic artery morphology "any structural anomaly of the small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm3Few/Thrbtm3Few
Genetic Background: involves: 129 * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Thrbtm3Few/Thrbtm3Few
Genetic Background: involves: 129 * C57BL/6

 MP:0011733 fused somites "a defect in which there is an appearance of a single enlarged somite resulting from partial or complete fusion of the two somitic anlage" [MGI:smb]
Show

Allelic Composition: Tbx6rv/Tbx6rv
Genetic Background: involves: C57BL/J * C57BL/6J

 MP:0011998 decreased embryonic cilium length "reduced length of the cilia of the mouse embryo found on the cells of the embryonic node" [MGI:csmith]
Show

Allelic Composition: F5tm2Dgi/F5+,Serpina10tm1Gjb/Serpina10tm1Gjb
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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