TBX2 (T-box transcription factor 2) - Rat Genome Database

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Gene: TBX2 (T-box transcription factor 2) Homo sapiens
Analyze
Symbol: TBX2
Name: T-box transcription factor 2
RGD ID: 1322243
HGNC Page HGNC
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including cellular senescence; heart development; and negative regulation of cellular senescence. Located in nucleus. Implicated in vertebral anomalies and variable endocrine and T-cell dysfunction.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ10169; T-box 2; T-box protein 2; T-box transcription factor TBX2; VETD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381761,399,843 - 61,409,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1761,399,843 - 61,409,466 (+)EnsemblGRCh38hg38GRCh38
GRCh371759,477,204 - 59,486,827 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361756,832,039 - 56,841,609 (+)NCBINCBI36hg18NCBI36
Build 341756,832,038 - 56,841,607NCBI
Celera1758,578,306 - 58,587,856 (+)NCBI
Cytogenetic Map17q23.2NCBI
HuRef1754,844,115 - 54,856,411 (+)NCBIHuRef
CHM1_11759,541,779 - 59,551,327 (+)NCBICHM1_1
T2T-CHM13v2.01762,268,710 - 62,278,311 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aorta morphogenesis  (IEA,ISS)
apoptotic process  (IEA)
atrioventricular canal development  (IEA,ISS)
atrioventricular canal morphogenesis  (IEA,ISS)
cardiac jelly development  (IMP)
cardiac muscle cell myoblast differentiation  (IEA)
cardiac muscle tissue development  (IEA,ISO,ISS)
cell fate specification  (IBA)
cellular senescence  (IDA,IEA,ISO)
cochlea morphogenesis  (IEA)
developmental growth involved in morphogenesis  (IEA,ISO)
embryonic camera-type eye morphogenesis  (IEA,ISS)
embryonic digit morphogenesis  (IEA,ISS)
embryonic heart tube development  (ISS)
endocardial cushion formation  (IMP)
endocardial cushion morphogenesis  (IEA,ISS)
epithelial tube branching involved in lung morphogenesis  (IEA)
fibroblast growth factor receptor signaling pathway  (IEA)
heart looping  (ISS)
heart morphogenesis  (IEA,ISO)
mammary placode formation  (IEA,ISO)
melanocyte proliferation  (IEA)
mesenchymal cell proliferation involved in lung development  (IEA)
muscle cell fate determination  (IEA,ISO,ISS)
negative regulation of cardiac chamber formation  (IEA,ISS)
negative regulation of cellular senescence  (IDA,IMP)
negative regulation of DNA-templated transcription  (IDA,IEA,ISO)
negative regulation of heart looping  (IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IDA,IEA,IMP,ISO)
neurogenesis  (IEA)
Notch signaling pathway  (IEA,ISO)
obsolete cell aging  (IDA)
obsolete regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation  (ISS)
outflow tract morphogenesis  (IEA,ISS)
outflow tract septum morphogenesis  (IEA,ISS)
pharynx development  (IEA,ISS)
pigment metabolic process involved in pigmentation  (IEA,ISO)
positive regulation of cardiac muscle cell proliferation  (IEA,ISS)
positive regulation of cell cycle G1/S phase transition  (IEA)
positive regulation of cell population proliferation  (IDA)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of transcription by RNA polymerase II  (IEA)
regulation of DNA-templated transcription  (IEA)
regulation of heart contraction  (ISS)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISS)
response to retinoic acid  (IEA)
roof of mouth development  (IEA,ISO)
smooth muscle cell differentiation  (IEA,ISO)
ureteric peristalsis  (IEA,ISO)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
4. Tbx2 is overexpressed and plays an important role in maintaining proliferation and suppression of senescence in melanomas. Vance KW, etal., Cancer Res. 2005 Mar 15;65(6):2260-8.
Additional References at PubMed
PMID:8530034   PMID:8597636   PMID:8889548   PMID:9434949   PMID:9710594   PMID:10468588   PMID:11062467   PMID:11111039   PMID:11748239   PMID:12000749   PMID:12023302   PMID:12477932  
PMID:12873224   PMID:14595187   PMID:14702039   PMID:15042700   PMID:15489334   PMID:16730707   PMID:17407139   PMID:18025091   PMID:18029348   PMID:18391951   PMID:18640248   PMID:18829543  
PMID:19216023   PMID:19266077   PMID:19274049   PMID:19453261   PMID:19469638   PMID:19633291   PMID:19893584   PMID:19960541   PMID:20211142   PMID:20348948   PMID:20383145   PMID:20383146  
PMID:20502058   PMID:20534814   PMID:20546612   PMID:20635360   PMID:20881960   PMID:21271665   PMID:21873635   PMID:22002537   PMID:22130515   PMID:22284968   PMID:22844464   PMID:23020925  
PMID:23388722   PMID:23674600   PMID:23727221   PMID:23959449   PMID:24113180   PMID:24309999   PMID:24470334   PMID:24742492   PMID:25027744   PMID:25344916   PMID:25371204   PMID:25394776  
PMID:25609649   PMID:26686089   PMID:28035050   PMID:28372585   PMID:28473536   PMID:28849151   PMID:29726930   PMID:29844126   PMID:30223900   PMID:30262811   PMID:30451831   PMID:30525309  
PMID:30599067   PMID:31253870   PMID:31527615   PMID:31753913   PMID:32271423   PMID:32296183   PMID:32393512   PMID:32861705   PMID:33961781   PMID:34064060  


Genomics

Comparative Map Data
TBX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381761,399,843 - 61,409,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1761,399,843 - 61,409,466 (+)EnsemblGRCh38hg38GRCh38
GRCh371759,477,204 - 59,486,827 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361756,832,039 - 56,841,609 (+)NCBINCBI36hg18NCBI36
Build 341756,832,038 - 56,841,607NCBI
Celera1758,578,306 - 58,587,856 (+)NCBI
Cytogenetic Map17q23.2NCBI
HuRef1754,844,115 - 54,856,411 (+)NCBIHuRef
CHM1_11759,541,779 - 59,551,327 (+)NCBICHM1_1
T2T-CHM13v2.01762,268,710 - 62,278,311 (+)NCBI
Tbx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391185,723,441 - 85,732,774 (+)NCBIGRCm39mm39
GRCm39 Ensembl1185,723,377 - 85,732,774 (+)Ensembl
GRCm381185,832,615 - 85,841,948 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1185,832,551 - 85,841,948 (+)EnsemblGRCm38mm10GRCm38
MGSCv371185,646,117 - 85,655,450 (+)NCBIGRCm37mm9NCBIm37
MGSCv361185,649,273 - 85,657,325 (+)NCBImm8
Celera1195,458,950 - 95,468,278 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1151.34NCBI
Tbx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21070,679,670 - 70,688,868 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1070,679,518 - 70,688,529 (+)Ensembl
Rnor_6.01073,278,932 - 73,290,764 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1073,279,119 - 73,289,921 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01073,184,210 - 73,193,085 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41074,085,203 - 74,092,988 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11074,096,142 - 74,107,239 (+)NCBI
Celera1069,604,924 - 69,612,748 (+)NCBICelera
Cytogenetic Map10q26NCBI
Tbx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554512,457,568 - 2,466,639 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554512,458,612 - 2,466,264 (+)NCBIChiLan1.0ChiLan1.0
TBX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11760,617,169 - 60,631,148 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1760,622,098 - 60,630,189 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01755,501,932 - 55,511,537 (+)NCBIMhudiblu_PPA_v0panPan3
TBX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1935,237,323 - 35,245,066 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl935,235,649 - 35,245,736 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha934,466,401 - 34,475,666 (-)NCBI
ROS_Cfam_1.0936,048,354 - 36,057,619 (-)NCBI
ROS_Cfam_1.0 Ensembl936,049,321 - 36,057,591 (-)Ensembl
UMICH_Zoey_3.1934,829,267 - 34,838,524 (-)NCBI
UNSW_CanFamBas_1.0935,114,884 - 35,124,167 (-)NCBI
UU_Cfam_GSD_1.0935,202,696 - 35,211,975 (-)NCBI
Tbx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560234,296,708 - 34,306,109 (-)NCBI
SpeTri2.0NW_0049364902,769,264 - 2,778,342 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,878,675 - 36,887,513 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,878,662 - 36,887,513 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21238,329,004 - 38,337,845 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11632,627,296 - 32,636,797 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1632,627,819 - 32,636,880 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660773,378,641 - 3,388,263 (+)NCBIVero_WHO_p1.0
Tbx2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248712,429,407 - 2,437,447 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248712,428,757 - 2,437,447 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
PMC311067P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371759,482,864 - 59,483,051UniSTSGRCh37
Build 361756,837,646 - 56,837,833RGDNCBI36
Celera1758,583,892 - 58,584,079RGD
Cytogenetic Map17q23.2UniSTS
HuRef1754,852,449 - 54,852,636UniSTS
TBX2_2169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371759,485,796 - 59,486,619UniSTSGRCh37
Build 361756,840,578 - 56,841,401RGDNCBI36
Celera1758,586,824 - 58,587,648RGD
HuRef1754,855,380 - 54,856,203UniSTS
STS-W87459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371759,486,136 - 59,486,383UniSTSGRCh37
Build 361756,840,918 - 56,841,165RGDNCBI36
Celera1758,587,164 - 58,587,411RGD
Cytogenetic Map17q23.2UniSTS
HuRef1754,855,720 - 54,855,967UniSTS
GeneMap99-GB4 RH Map17371.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2450
Count of miRNA genes:874
Interacting mature miRNAs:1067
Transcripts:ENST00000240328, ENST00000419047, ENST00000477081, ENST00000586986
Prediction methods:Microtar, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2050 2032 976 112 428 67 2789 1432 1066 318 1143 1317 47 1199 1870 1
Low 300 210 738 507 161 392 1399 737 2640 90 272 216 125 1 5 918 5 1
Below cutoff 42 698 5 3 789 5 71 14 20 8 33 57 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000240328   ⟹   ENSP00000240328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1761,399,843 - 61,409,466 (+)Ensembl
RefSeq Acc Id: ENST00000419047   ⟹   ENSP00000404781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1761,399,910 - 61,409,466 (+)Ensembl
RefSeq Acc Id: ENST00000477081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1761,400,365 - 61,409,124 (+)Ensembl
RefSeq Acc Id: ENST00000586986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1761,408,722 - 61,409,466 (+)Ensembl
RefSeq Acc Id: NM_005994   ⟹   NP_005985
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381761,399,843 - 61,409,466 (+)NCBI
GRCh371759,477,257 - 59,486,827 (+)ENTREZGENE
Build 361756,832,039 - 56,841,609 (+)NCBI Archive
HuRef1754,844,115 - 54,856,411 (+)ENTREZGENE
CHM1_11759,541,779 - 59,551,327 (+)NCBI
T2T-CHM13v2.01762,268,710 - 62,278,311 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005985   ⟸   NM_005994
- UniProtKB: Q13207 (UniProtKB/Swiss-Prot),   A0A024QZ86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000240328   ⟸   ENST00000240328
RefSeq Acc Id: ENSP00000404781   ⟸   ENST00000419047
Protein Domains
T-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13207-F1-model_v2 AlphaFold Q13207 1-712 view protein structure

Promoters
RGD ID:6793964
Promoter ID:HG_KWN:26774
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_005994,   UC002IZE.2,   UC002IZG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361756,831,531 - 56,832,082 (+)MPROMDB
RGD ID:7235899
Promoter ID:EPDNEW_H23694
Type:initiation region
Name:TBX2_1
Description:T-box 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381761,399,883 - 61,399,943EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1 copy number loss See cases [RCV000051259] Chr17:60043448..62148729 [GRCh38]
Chr17:58120809..60226090 [GRCh37]
Chr17:55475591..57580872 [NCBI36]
Chr17:17q23.1-23.2
pathogenic
GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1 copy number loss See cases [RCV000051161] Chr17:60095339..62237942 [GRCh38]
Chr17:58172700..60315303 [GRCh37]
Chr17:55527482..57670085 [NCBI36]
Chr17:17q23.1-23.2
pathogenic
GRCh37/hg19 17q23(chr17:58934659-60395826)x1 copy number loss See cases [RCV000051211] Chr17:58934659..60395826 [GRCh37]
Chr17:56289441..57750608 [NCBI36]
Chr17:17q23
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 copy number gain See cases [RCV000052485] Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24
pathogenic
GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1 copy number loss See cases [RCV000135803] Chr17:60255192..62237942 [GRCh38]
Chr17:58332553..60315303 [GRCh37]
Chr17:55687335..57670085 [NCBI36]
Chr17:17q23.2
pathogenic|likely pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q23.2(chr17:61331901-61424019)x3 copy number gain See cases [RCV000140882] Chr17:61331901..61424019 [GRCh38]
Chr17:59409262..59501380 [GRCh37]
Chr17:56764044..56856162 [NCBI36]
Chr17:17q23.2
uncertain significance
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln) single nucleotide variant TBX2-related condition [RCV000625998]|Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV000723359] Chr17:61400235 [GRCh38]
Chr17:59477596 [GRCh37]
Chr17:17q23.2
pathogenic
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 copy number gain See cases [RCV000240364] Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17q23.2(chr17:59419931-59500353)x3 copy number gain See cases [RCV000511640] Chr17:59419931..59500353 [GRCh37]
Chr17:17q23.2
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1 copy number loss See cases [RCV000511292] Chr17:56623275..60285107 [GRCh37]
Chr17:17q22-23.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_005994.4(TBX2):c.914G>A (p.Arg305His) single nucleotide variant Inborn genetic diseases [RCV000624455]|Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV000723360] Chr17:61404632 [GRCh38]
Chr17:59481993 [GRCh37]
Chr17:17q23.2
pathogenic|uncertain significance
GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1 copy number loss not provided [RCV000683946] Chr17:58388728..60486746 [GRCh37]
Chr17:17q23.2
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q23.2(chr17:59470597-59489787)x3 copy number gain not provided [RCV000739636] Chr17:59470597..59489787 [GRCh37]
Chr17:17q23.2
benign
GRCh37/hg19 17q23.2(chr17:59479113-59490235)x3 copy number gain not provided [RCV000739637] Chr17:59479113..59490235 [GRCh37]
Chr17:17q23.2
benign
GRCh37/hg19 17q23.2(chr17:59482968-59489787)x3 copy number gain not provided [RCV000739638] Chr17:59482968..59489787 [GRCh37]
Chr17:17q23.2
benign
GRCh37/hg19 17q23.2(chr17:59482968-59490235)x4 copy number gain not provided [RCV000739639] Chr17:59482968..59490235 [GRCh37]
Chr17:17q23.2
benign
GRCh37/hg19 17q23.2(chr17:59486799-59490235)x0 copy number loss not provided [RCV000739640] Chr17:59486799..59490235 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1476C>T (p.His492=) single nucleotide variant not provided [RCV000918682] Chr17:61405626 [GRCh38]
Chr17:59482987 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1847G>A (p.Arg616Gln) single nucleotide variant not provided [RCV000916914] Chr17:61408214 [GRCh38]
Chr17:59485575 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1584C>G (p.Thr528=) single nucleotide variant not provided [RCV000916448] Chr17:61405734 [GRCh38]
Chr17:59483095 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.2104C>A (p.Arg702=) single nucleotide variant not provided [RCV000904981] Chr17:61408471 [GRCh38]
Chr17:59485832 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1773C>G (p.Pro591=) single nucleotide variant not provided [RCV000879840] Chr17:61408140 [GRCh38]
Chr17:59485501 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.9G>A (p.Glu3=) single nucleotide variant not provided [RCV000903859] Chr17:61400185 [GRCh38]
Chr17:59477546 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1797C>T (p.Ala599=) single nucleotide variant not provided [RCV000922619] Chr17:61408164 [GRCh38]
Chr17:59485525 [GRCh37]
Chr17:17q23.2
likely benign
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2
pathogenic
GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614) copy number gain not provided [RCV000767765] Chr17:58121190..60140614 [GRCh37]
Chr17:17q23.1-23.2
likely pathogenic
NM_005994.4(TBX2):c.789C>T (p.Val263=) single nucleotide variant not provided [RCV000910201] Chr17:61403186 [GRCh38]
Chr17:59480547 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1188C>T (p.Ala396=) single nucleotide variant not provided [RCV000979210] Chr17:61405338 [GRCh38]
Chr17:59482699 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1893G>A (p.Pro631=) single nucleotide variant not provided [RCV000906031] Chr17:61408260 [GRCh38]
Chr17:59485621 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1179C>T (p.Pro393=) single nucleotide variant not provided [RCV000907524] Chr17:61405329 [GRCh38]
Chr17:59482690 [GRCh37]
Chr17:17q23.2
benign
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2
pathogenic
NM_005994.4(TBX2):c.1712G>C (p.Gly571Ala) single nucleotide variant not provided [RCV000955527] Chr17:61408079 [GRCh38]
Chr17:59485440 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.477C>T (p.Ala159=) single nucleotide variant not provided [RCV000909911] Chr17:61401765 [GRCh38]
Chr17:59479126 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.986C>A (p.Pro329His) single nucleotide variant not provided [RCV000955217] Chr17:61404704 [GRCh38]
Chr17:59482065 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1008C>T (p.Ser336=) single nucleotide variant not provided [RCV000936760] Chr17:61404726 [GRCh38]
Chr17:59482087 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1686+5G>A single nucleotide variant not provided [RCV000888849] Chr17:61405841 [GRCh38]
Chr17:59483202 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1800C>A (p.Ala600=) single nucleotide variant not provided [RCV000886370] Chr17:61408167 [GRCh38]
Chr17:59485528 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1212G>A (p.Arg404=) single nucleotide variant not provided [RCV000953373] Chr17:61405362 [GRCh38]
Chr17:59482723 [GRCh37]
Chr17:17q23.2
benign|likely benign
NM_005994.4(TBX2):c.1056G>A (p.Glu352=) single nucleotide variant not provided [RCV000913370] Chr17:61405206 [GRCh38]
Chr17:59482567 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1125G>A (p.Pro375=) single nucleotide variant not provided [RCV000911512] Chr17:61405275 [GRCh38]
Chr17:59482636 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1005C>A (p.Thr335=) single nucleotide variant not provided [RCV000912492] Chr17:61404723 [GRCh38]
Chr17:59482084 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1560C>T (p.Asn520=) single nucleotide variant not provided [RCV000890835] Chr17:61405710 [GRCh38]
Chr17:59483071 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.324G>C (p.Thr108=) single nucleotide variant not provided [RCV000889798] Chr17:61400500 [GRCh38]
Chr17:59477861 [GRCh37]
Chr17:17q23.2
likely benign
NM_005994.4(TBX2):c.1778C>A (p.Thr593Asn) single nucleotide variant Microcephaly [RCV001252869] Chr17:61408145 [GRCh38]
Chr17:59485506 [GRCh37]
Chr17:17q23.2
uncertain significance
NM_005994.4(TBX2):c.110T>G (p.Phe37Cys) single nucleotide variant Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV001257454] Chr17:61400286 [GRCh38]
Chr17:59477647 [GRCh37]
Chr17:17q23.2
likely pathogenic
NM_005994.4(TBX2):c.1295A>G (p.Lys432Arg) single nucleotide variant Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV001329511] Chr17:61405445 [GRCh38]
Chr17:59482806 [GRCh37]
Chr17:17q23.2
uncertain significance
NM_005994.4(TBX2):c.*218G>T single nucleotide variant not provided [RCV001686664] Chr17:61408724 [GRCh38]
Chr17:59486085 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.366C>A (p.Gly122=) single nucleotide variant not provided [RCV001613504] Chr17:61400542 [GRCh38]
Chr17:59477903 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.2051C>T (p.Ala684Val) single nucleotide variant not provided [RCV001728139] Chr17:61408418 [GRCh38]
Chr17:59485779 [GRCh37]
Chr17:17q23.2
uncertain significance
NM_005994.4(TBX2):c.1160C>T (p.Pro387Leu) single nucleotide variant not specified [RCV002246858] Chr17:61405310 [GRCh38]
Chr17:59482671 [GRCh37]
Chr17:17q23.2
benign
NC_000017.10:g.58076721_60362868del deletion Megacolon [RCV001290085] Chr17:58076721..60362868 [GRCh37]
Chr17:17q23.1-23.2
likely pathogenic
NM_005994.4(TBX2):c.1827C>T (p.Ser609=) single nucleotide variant Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV001815655] Chr17:61408194 [GRCh38]
Chr17:59485555 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1051+36del deletion Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV001815652] Chr17:61404805 [GRCh38]
Chr17:59482166 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1051+39C>G single nucleotide variant Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV001815653] Chr17:61404808 [GRCh38]
Chr17:59482169 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1051+43G>A single nucleotide variant Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV001815654] Chr17:61404812 [GRCh38]
Chr17:59482173 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1687-22C>T single nucleotide variant Vertebral anomalies and variable endocrine and T-cell dysfunction [RCV001816036] Chr17:61408032 [GRCh38]
Chr17:59485393 [GRCh37]
Chr17:17q23.2
benign
NM_005994.4(TBX2):c.1606G>C (p.Gly536Arg) single nucleotide variant not provided [RCV001904092] Chr17:61405756 [GRCh38]
Chr17:59483117 [GRCh37]
Chr17:17q23.2
uncertain significance
NC_000017.10:g.(?_54671585)_(59938900_?)dup duplication Joubert syndrome [RCV001923071] Chr17:54671585..59938900 [GRCh37]
Chr17:17q22-23.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11597 AgrOrtholog
COSMIC TBX2 COSMIC
Ensembl Genes ENSG00000121068 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000240328 ENTREZGENE
  ENSP00000240328.3 UniProtKB/Swiss-Prot
  ENSP00000404781.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000240328 ENTREZGENE
  ENST00000240328.4 UniProtKB/Swiss-Prot
  ENST00000419047.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121068 GTEx
HGNC ID HGNC:11597 ENTREZGENE
Human Proteome Map TBX2 Human Proteome Map
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
  TBX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_Brachyury UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6909 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6909 ENTREZGENE
OMIM 600747 OMIM
  618223 OMIM
PANTHER PTHR11267 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36360 PharmGKB
PRINTS BRACHYURY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 A0A024QZ86 ENTREZGENE, UniProtKB/TrEMBL
  F8WCM9_HUMAN UniProtKB/TrEMBL
  Q13207 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q16424 UniProtKB/Swiss-Prot
  Q7Z647 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-11 TBX2  T-box transcription factor 2  TBX2  T-box 2  Symbol and/or name change 5135510 APPROVED