T-box 1

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Synonym

TBX1, T-box protein 1, T-box 1, CTHM, VCFS, T-box transcription factor TBX1, TGA, Testis-specific T-box protein, TBX1C, DGS, DORV, CAFS, DGCR

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:- cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:10.10 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:- bone:- skin:4.80
GeneChip cerebrum:4.73 cerebellum:4.65 brain stem:4.82 corpus callosum/glia:4.69 pineal gland:- peripheral nerve:4.56 spine:4.53 retina:- eye:- artery/aorta:4.64 vein:5.02 lymphnode:4.71 peripheral blood:- spleen:4.67 thymus:4.48 bone marrow:4.75 adipose:4.66 bone:- skin:4.77
CAGE cerebrum:0.37 cerebellum:- brain stem:0.53 corpus callosum/glia:0.39 pineal gland:0.35 peripheral nerve:- spine:0.09 retina:- eye:- artery/aorta:2.10 vein:1.92 lymphnode:2.08 peripheral blood:- spleen:0.17 thymus:0.12 bone marrow:- adipose:1.41 bone:- skin:-
RNA-seq cerebrum:0.00 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:0.00 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:0.00 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:- placenta:- prostate:- ovary:37.30 testis:4.30 heart:- muscle:20.10 esophagus:- stomach:- intestine:- colon:-     liver/hepato:-        lung:-    bladder:- kidney:- pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:- breast:- salivary:-
GeneChip uterus:4.54 placenta:4.54 prostate:4.57 ovary:4.66 testis:4.59 heart:4.93 muscle:4.81 esophagus:4.73 stomach:4.71 intestine:4.98 colon:4.80 liver/hepato:4.76 lung:4.76 bladder:- kidney:4.66 pituitary:4.59 thyroid/parathyroid:4.54 adrenal gland:4.59 pancreas:5.38 breast:4.53 salivary:4.90
CAGE uterus:0.87 placenta:0.48 prostate:1.76 ovary:1.16 testis:2.84 heart:0.45 muscle:2.88 esophagus:1.29 stomach:- intestine:0.84 colon:0.90     liver/hepato:0.14    lung:1.01 bladder:0.98 kidney:0.15 pituitary:0.50 thyroid/parathyroid:1.72 adrenal gland:- pancreas:0 breast:2.02 salivary:0.62
RNA-seq uterus:- placenta:- prostate:0.00 ovary:0.10 testis:0.00 heart:0.00 muscle:0.00 esophagus:- stomach:- intestine:- colon:0.00     liver/hepato:0.00        lung:0.00    bladder:- kidney:0.00 pituitary:- thyroid/parathyroid:0.00 adrenal gland:0.16 pancreas:- breast:0.11 salivary:-

Gene Information

IDs

Refseq ID NM_005992
Gene ID 6899
Unigene ID Hs.173984
Probe set ID 207662_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000184058
GTEx ID ENSG00000184058

Orthologous Gene

Mouse[1]  NM_011532
Rat[1]  NM_001108322

Chromosomal Region

22q11.21  [19,744,226  -  19,771,116]
LRG_226  [5,001  -  15,630]

Gene Family (Interpro ID)

IPR001699  Transcription factor, T-box

Link to Pubmed  (Pubmed ID)

1360769
9268629
11111039
11585671
11748311
12533514
12858556
14585638
15337468
15703190
16586352
16684884
16854283
17273972
17377518
17438107
17479646
17622328
17850965
19050236
19336370
19407855
19467348
19645056
19948535
20071775
20301696
20497193
20634891
20811636
20937753
21041608
21796729
22164283
22185286
22801995
22842189
22893440
22931165
23000736
23034814
23725790
24295890

Gene Ontology  (GO ID)

Biological Process

GO:0001525  angiogenesis
GO:0009952  anterior/posterior pattern formation
GO:0048844  artery morphogenesis
GO:0001568  blood vessel development
GO:0048514  blood vessel morphogenesis
GO:0001974  blood vessel remodeling
GO:0001708  cell fate specification
GO:0008283  cell proliferation
GO:0071300  cellular response to retinoic acid
GO:0090103  cochlea morphogenesis
GO:0060982  coronary artery morphogenesis
GO:0007368  determination of left/right symmetry
GO:0042471  ear morphogenesis
GO:0048701  embryonic cranial skeleton morphogenesis
GO:0048703  embryonic viscerocranium morphogenesis
GO:0070166  enamel mineralization
GO:0030855  epithelial cell differentiation
GO:0060325  face morphogenesis
GO:0007507  heart development
GO:0003007  heart morphogenesis
GO:0042472  inner ear morphogenesis
GO:0001945  lymph vessel development
GO:0007498  mesoderm development
GO:0042474  middle ear morphogenesis
GO:0042693  muscle cell fate commitment
GO:0007517  muscle organ development
GO:0048644  muscle organ morphogenesis
GO:0060415  muscle tissue morphogenesis
GO:0045596  negative regulation of cell differentiation
GO:0001755  neural crest cell migration
GO:0042475  odontogenesis of dentine-containing tooth
GO:0042473  outer ear morphogenesis
GO:0003151  outflow tract morphogenesis
GO:0003148  outflow tract septum morphogenesis
GO:0060017  parathyroid gland development
GO:0007389  pattern specification process
GO:0060037  pharyngeal system development
GO:0008284  positive regulation of cell proliferation
GO:0050679  positive regulation of epithelial cell proliferation
GO:0043410  positive regulation of MAPKKK cascade
GO:0002053  positive regulation of mesenchymal cell proliferation
GO:0001934  positive regulation of protein amino acid phosphorylation
GO:0045944  positive regulation of transcription from RNA polymerase II promoter
GO:0045893  positive regulation of transcription, DNA-dependent
GO:0006357  regulation of transcription from RNA polymerase II promoter
GO:0048384  retinoic acid receptor signaling pathway
GO:0048752  semicircular canal morphogenesis
GO:0007605  sensory perception of sound
GO:0035176  social behavior
GO:0060023  soft palate development
GO:0048538  thymus development
GO:0030878  thyroid gland development
GO:0043587  tongue morphogenesis
GO:0006351  transcription, DNA-dependent
GO:0021644  vagus nerve morphogenesis

Cellular Component

GO:0005634  nucleus

Molecular Function

GO:0003677  DNA binding
GO:0046983  protein dimerization activity
GO:0042803  protein homodimerization activity
GO:0043565  sequence-specific DNA binding
GO:0003700  transcription factor activity