TBX2 (T-box transcription factor 2)

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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 ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tbx2 (T-box 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Tbx2 (T-box transcription factor 2)	HGNC	Ensembl, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tbx2 (T-box transcription factor 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TBX2 (T-box transcription factor 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	TBX2 (T-box transcription factor 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tbx2 (T-box transcription factor 2)	NCBI	Ortholog
Sus scrofa (pig):	TBX2 (T-box transcription factor 2)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TBX2 (T-box transcription factor 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tbx2 (T-box transcription factor 2)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Tbx3 (T-box 3)	HGNC	OrthoDB, OrthoMCL
Canis lupus familiaris (dog):	TBX3 (T-box transcription factor 3)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	Tbx3 (T-box transcription factor 3)	HGNC	OrthoDB
Sus scrofa (pig):	TBX3 (T-box transcription factor 3)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tbx2 (T-box transcription factor 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|OrthoFinder\|PhylomeDB)
Mus musculus (house mouse):	Tbx2 (T-box 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tbx2b (T-box 2b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	tbx2a (T-box 2a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	tbx-2	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	bi	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	61,399,843 - 61,409,466 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	17	61,399,843 - 61,409,466 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	59,477,204 - 59,486,827 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	56,832,039 - 56,841,609 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	17	56,832,038 - 56,841,607	NCBI
Celera	17	58,578,306 - 58,587,856 (+)	NCBI
Cytogenetic Map	17	q23.2	NCBI
HuRef	17	54,844,115 - 54,856,411 (+)	NCBI		HuRef
CHM1_1	17	59,541,779 - 59,551,327 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	62,268,710 - 62,278,311 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Joubert syndrome (IAGP)

megacolon (IAGP)

microcephaly (IAGP)

neuroblastoma (EXP)

vertebral anomalies and variable endocrine and T-cell dysfunction (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

aristolochic acid (EXP)

arotinoid acid (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

Butylbenzyl phthalate (ISO)

C60 fullerene (ISO)

CHIR 99021 (EXP)

chlordecone (ISO)

choline (ISO)

clothianidin (EXP)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

cortisol (EXP)

cyclosporin A (EXP)

D-glucose (ISO)

decabromodiphenyl ether (ISO)

dibutyl phthalate (ISO)

diethyl phthalate (ISO)

diisobutyl phthalate (ISO)

diisononyl phthalate (ISO)

dioxygen (ISO)

diuron (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

flutamide (ISO)

folic acid (ISO)

folpet (ISO)

fulvestrant (EXP)

gentamycin (ISO)

glucose (ISO)

L-ascorbic acid (EXP)

L-ascorbic acid 2-phosphate (EXP)

L-methionine (ISO)

lead nitrate (ISO)

menadione (EXP)

nitrofen (ISO)

paracetamol (ISO)

phosgene (ISO)

raloxifene (EXP)

retinyl acetate (ISO)

rotenone (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

tebuconazole (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

triptonide (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vorinostat (EXP)

XAV939 (EXP)

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

chromatin (ISA)

cytoplasm (IEA)

nucleus (IDA,IEA)

transcription regulator complex (IEA)

Molecular Function

DNA binding (IEA,TAS)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

DNA-binding transcription factor binding (IEA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IDA)

histone deacetylase binding (IEA)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IDA,IEA)

sequence-specific DNA binding (IDA)

sequence-specific double-stranded DNA binding (IDA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal B cell morphology (IAGP)

Aganglionic megacolon (IAGP)

Agenesis of cerebellar vermis (IAGP)

Atrial septal defect (IAGP)

Autistic behavior (IAGP)

Autosomal dominant inheritance (IAGP)

Brachycephaly (IAGP)

Broad nasal tip (IAGP)

Cleft lip (IAGP)

Cleft palate (IAGP)

Cupped ear (IAGP)

Decreased response to growth hormone stimulation test (IAGP)

Depressed nasal bridge (IAGP)

Depressed nasal tip (IAGP)

Double outlet right ventricle (IAGP)

Ectopia pupillae (IAGP)

Epicanthus (IAGP)

Glabellar hemangioma (IAGP)

Global developmental delay (IAGP)

Hashimoto thyroiditis (IAGP)

Hemivertebrae (IAGP)

Hypertelorism (IAGP)

Hypoparathyroidism (IAGP)

Kyphosis (IAGP)

Low anterior hairline (IAGP)

Low-set ears (IAGP)

Microcephaly (IAGP)

Narrow palate (IAGP)

Overfolded helix (IAGP)

Patent ductus arteriosus (IAGP)

Pulmonic stenosis (IAGP)

Scoliosis (IAGP)

Short neck (IAGP)

Short stature (IAGP)

Sprengel anomaly (IAGP)

Triangular face (IAGP)

Webbed neck (IAGP)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	61,399,843 - 61,409,466 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	17	61,399,843 - 61,409,466 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	59,477,204 - 59,486,827 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	56,832,039 - 56,841,609 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	17	56,832,038 - 56,841,607	NCBI
Celera	17	58,578,306 - 58,587,856 (+)	NCBI
Cytogenetic Map	17	q23.2	NCBI
HuRef	17	54,844,115 - 54,856,411 (+)	NCBI		HuRef
CHM1_1	17	59,541,779 - 59,551,327 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	62,268,710 - 62,278,311 (+)	NCBI

Tbx2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	85,723,441 - 85,732,774 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	11	85,723,377 - 85,732,774 (+)	Ensembl
GRCm38	11	85,832,615 - 85,841,948 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	85,832,551 - 85,841,948 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	85,646,117 - 85,655,450 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	11	85,649,273 - 85,657,325 (+)	NCBI			mm8
Celera	11	95,458,950 - 95,468,278 (+)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	51.34	NCBI

Tbx2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	10	70,679,670 - 70,688,868 (+)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	10	70,679,518 - 70,688,529 (+)	Ensembl
Rnor_6.0	10	73,278,932 - 73,290,764 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	73,279,119 - 73,289,921 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	73,184,210 - 73,193,085 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	74,085,203 - 74,092,988 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	10	74,096,142 - 74,107,239 (+)	NCBI
Celera	10	69,604,924 - 69,612,748 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Tbx2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955451	2,457,568 - 2,466,639 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	2,458,612 - 2,466,264 (+)	NCBI	ChiLan1.0	ChiLan1.0

TBX2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	17	60,617,169 - 60,631,148 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	60,622,098 - 60,630,189 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	17	55,501,932 - 55,511,537 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

TBX2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	35,237,323 - 35,245,066 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	35,235,649 - 35,245,736 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	34,466,401 - 34,475,666 (-)	NCBI
ROS_Cfam_1.0	9	36,048,354 - 36,057,619 (-)	NCBI
ROS_Cfam_1.0 Ensembl	9	36,049,321 - 36,057,591 (-)	Ensembl
UMICH_Zoey_3.1	9	34,829,267 - 34,838,524 (-)	NCBI
UNSW_CanFamBas_1.0	9	35,114,884 - 35,124,167 (-)	NCBI
UU_Cfam_GSD_1.0	9	35,202,696 - 35,211,975 (-)	NCBI

Tbx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	34,296,708 - 34,306,109 (-)	NCBI
SpeTri2.0	NW_004936490	2,769,264 - 2,778,342 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TBX2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	36,878,675 - 36,887,513 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	36,878,662 - 36,887,513 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	38,329,004 - 38,337,845 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TBX2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	32,627,296 - 32,636,797 (+)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	16	32,627,819 - 32,636,880 (+)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666077	3,378,641 - 3,388,263 (+)	NCBI	Vero_WHO_p1.0

Tbx2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624871	2,429,407 - 2,437,447 (-)	Ensembl	HetGla_female_1.0		hetGla2
HetGla 1.0	NW_004624871	2,428,757 - 2,437,447 (-)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

PMC311067P4

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	59,482,864 - 59,483,051	UniSTS	GRCh37
Build 36	17	56,837,646 - 56,837,833	RGD	NCBI36
Celera	17	58,583,892 - 58,584,079	RGD
Cytogenetic Map	17	q23.2	UniSTS
HuRef	17	54,852,449 - 54,852,636	UniSTS

TBX2_2169

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	59,485,796 - 59,486,619	UniSTS	GRCh37
Build 36	17	56,840,578 - 56,841,401	RGD	NCBI36
Celera	17	58,586,824 - 58,587,648	RGD
HuRef	17	54,855,380 - 54,856,203	UniSTS

STS-W87459

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	59,486,136 - 59,486,383	UniSTS	GRCh37
Build 36	17	56,840,918 - 56,841,165	RGD	NCBI36
Celera	17	58,587,164 - 58,587,411	RGD
Cytogenetic Map	17	q23.2	UniSTS
HuRef	17	54,855,720 - 54,855,967	UniSTS
GeneMap99-GB4 RH Map	17	371.39	UniSTS

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

Medium

2050

2032

976

112

428

2789

1432

1066

318

1143

1317

1199

1870

Low

300

210

738

507

161

392

1399

737

2640

272

216

125

918

Below cutoff

698

789

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_005994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB209378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW006595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC052566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC070054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM985069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT583838	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S81264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U28049	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000240328 ⟹ ENSP00000240328

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	17	61,399,843 - 61,409,466 (+)	Ensembl

RefSeq Acc Id:

ENST00000419047 ⟹ ENSP00000404781

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	17	61,399,910 - 61,409,466 (+)	Ensembl

RefSeq Acc Id:

ENST00000477081

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	17	61,400,365 - 61,409,124 (+)	Ensembl

RefSeq Acc Id:

ENST00000586986

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	17	61,408,722 - 61,409,466 (+)	Ensembl

RefSeq Acc Id:

NM_005994 ⟹ NP_005985

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	61,399,843 - 61,409,466 (+)	NCBI
GRCh37	17	59,477,257 - 59,486,827 (+)	ENTREZGENE
Build 36	17	56,832,039 - 56,841,609 (+)	NCBI Archive
HuRef	17	54,844,115 - 54,856,411 (+)	ENTREZGENE
CHM1_1	17	59,541,779 - 59,551,327 (+)	NCBI
T2T-CHM13v2.0	17	62,268,710 - 62,278,311 (+)	NCBI

Sequence:

show sequence

GTTAGCGCAGGGGATCCGAGCTGGGCAGGACATGTGAGATAGTCACAGTTTTCCAGAGATCACG
ACAAGATCTAACCAGTCGCGCGTGGTCCCCGGCGCCGGAGCGGGCCAGCTCAGCCCGGCCCAGC
CCGGCCCCGCGCAGAGCCCCCGCCGCCCCCGCGCACAGAGCCGGGTGCCCCTTGCGGTGCGCCG
GACGGGAAGCCCCGAGGAGCAGCTGCTGCGCCCGCCACCCGGGTCGTCCGTCCACCGCGCGCGC
CGCCGCCCGGGCCGGGGGTCCGAGCCGCGCGCCCCCGGCCCCGGCCCCGGCCCCCGGGCGCCTG
GGCCGGATGTCCCGATGAGAGAGCCGGCGCTGGCGGCCAGCGCCATGGCTTACCACCCGTTCCA
CGCGCCACGGCCCGCCGACTTCCCCATGTCCGCCTTTCTGGCGGCGGCGCAGCCCTCCTTCTTC
CCGGCACTCGCGCTGCCGCCCGGCGCGCTGGCCAAGCCGCTGCCCGACCCGGGCCTGGCGGGGG
CGGCGGCCGCGGCGGCGGCGGCGGCAGCAGCGGCCGAGGCGGGGCTGCACGTCTCGGCACTGGG
CCCGCACCCGCCCGCCGCGCATCTGCGCTCCCTCAAGAGCCTGGAGCCCGAGGACGAGGTGGAG
GACGACCCCAAGGTGACGCTGGAGGCCAAGGAGCTGTGGGACCAGTTCCACAAGCTAGGCACGG
AGATGGTCATCACCAAGTCCGGGAGGCGGATGTTCCCCCCCTTCAAGGTGCGAGTCAGCGGCCT
GGACAAGAAGGCCAAGTATATCCTGCTGATGGACATTGTAGCCGCTGACGATTGCCGCTATAAG
TTCCACAACTCGCGCTGGATGGTGGCGGGCAAGGCCGACCCTGAGATGCCCAAACGCATGTACA
TCCACCCAGACAGCCCAGCCACGGGGGAGCAGTGGATGGCTAAGCCTGTGGCCTTCCACAAGCT
GAAGCTGACCAACAACATCTCTGACAAGCACGGCTTCACCATCCTAAACTCCATGCACAAGTAC
CAGCCGCGCTTCCACATAGTGCGAGCCAACGACATCCTGAAGCTGCCTTACAGCACCTTCCGCA
CCTACGTGTTCCCGGAGACCGACTTCATCGCCGTCACTGCCTACCAGAATGACAAGATCACACA
GCTGAAGATCGACAACAACCCGTTTGCCAAGGGCTTCCGGGACACCGGGAACGGCCGGCGGGAG
AAAAGGAAGCAGCTGACGCTGCCGTCTCTACGCTTGTACGAGGAGCACTGCAAACCCGAGCGCG
ATGGCGCGGAGTCAGACGCCTCGTCGTGCGACCCTCCCCCCGCGCGGGAACCACCCACCTCCCC
GGGCGCAGCGCCCAGTCCGCTGCGCCTGCACCGGGCCCGAGCTGAGGAGAAGTCGTGCGCCGCG
GACAGCGACCCGGAGCCTGAGCGGTTGAGCGAGGAGCGTGCGGGGGCGCCGCTAGGCCGCAGCC
CGGCTCCAGACAGCGCCAGCCCCACTCGCTTGACCGAACCCGAGCGCGCCCGGGAGCGGCGTAG
TCCCGAGAGGGGCAAGGAGCCGGCCGAGAGCGGCGGGGACGGCCCGTTCGGCCTGAGGAGCCTG
GAGAAGGAGCGCGCCGAAGCTCGGAGGAAGGACGAGGGGCGCAAGGAGGCGGCCGAGGGCAAGG
AGCAGGGCCTGGCGCCGCTGGTGGTGCAGACAGACAGTGCGTCCCCCCTGGGCGCCGGACACCT
GCCCGGCCTGGCCTTTTCCAGCCACTTGCACGGGCAGCAGTTCTTTGGGCCGCTGGGAGCCGGC
CAGCCGCTCTTCCTGCACCCTGGACAGTTCACCATGGGCCCTGGCGCCTTCTCCGCCATGGGCA
TGGGTCACCTACTGGCCTCGGTGGCAGGCGGCGGCAACGGCGGAGGTGGCGGGCCTGGGACCGC
CGCGGGGCTGGACGCAGGCGGGCTGGGTCCCGCGGCCAGCGCAGCAAGCACCGCCGCGCCCTTC
CCGTTCCACCTCTCCCAGCACATGCTGGCATCTCAGGGAATTCCAATGCCCACTTTCGGAGGCC
TCTTCCCCTACCCCTACACCTACATGGCAGCAGCAGCCGCAGCCGCCTCGGCTTTGCCCGCCAC
TAGTGCTGCAGCTGCCGCCGCCGCAGCCGCCGGCTCCCTCTCCCGGAGCCCCTTCCTGGGCAGT
GCCCGGCCCCGACTGCGTTTCAGCCCCTATCAGATCCCGGTCACCATCCCGCCTAGCACTAGCC
TCCTCACCACCGGGCTGGCCTCTGAGGGCTCCAAGGCCGCTGGTGGAAACAGCCGGGAGCCTAG
CCCCCTGCCCGAGCTGGCTCTCCGCAAAGTAGGGGCCCCATCCCGCGGTGCCCTGTCGCCCAGT
GGCTCGGCCAAGGAGGCGGCCAATGAACTGCAGAGCATCCAGAGACTGGTGAGTGGGCTGGAGA
GCCAGCGAGCCCTCTCCCCAGGCCGGGAGTCGCCCAAGTGAGGGGCTGCCCAGCTGCTCCCCTG
CCACGCAGGCCACCCGGGCTGCCTGCCCCTGCTGCTTGGGACGTGTACAGCACAGAATGAGTAT
TTATTTAAATAAAGGAGAAAAGTGGGCTGCAGCAGCCGGAATAGAGCCTCGTCTGGCAAGTCGG
GGCCTGGGACACTTCCCTGGGCCTCAACAAGGATCAGGCTGCTGGAAACACAGTCACTTGGGAG
CTGCTGGGCTAGGTCCAGATCCGCTCCAGCGTCAAGGTGGCATCCGAAGGTGTCTCTGGTCTTC
CAGCGAGGTGGGAGAGGCCTCATCCAGGGCCCAGCGGTCCCTGCAGAAGCCAGAAGGTGCAGGG
GCCAGGGGTGGGAGCATCGGAGGGAGTCCCAGAGCCCTGGACCTTGGGCCTAGACCGCGTGATA
AAACTGGGTTGAGGGATGCTGGAACCAGTTACGACTGAAGTCAGTGTAGACCTGAGCTGGGAGG
GAACCTGTTAGTCTCCCCACCTCTTCCCTGAAGAGACAGGCACCCCTCCCAGCCGTGGTCAACG
GAGGGAGTGGCACTTCTGCCTTGAGTCCCCAGGGGAAAAAAAAAAAAGATATTTATGAAATAAA
TGGTAATTTGTGTAAATAAGCTTTAAGGTTCCCAGAATATGCAAATTGGTATTAATTTATTCAA
AGGTGTACATTGCTGTGTACATATATTTAGAGATTAACTCATACATTTAAAGTTTTTTTCATTT
TACGTGAGCATCTATATTGTACAGGGCTGGGGGGGCCCTTGGCTGCGGGAGAAGGCCCAGAGCC
CTGGAGGAGCCACCACCCCGCCGGCCCCTCGACCCCTCGGCCCCTCGGCCCCTCCGCCCGGGTT
TGGCTCGCCCGGCCCGCGGGCTCCACCTCAGGTTTTCACTTTTCGCTCCGGAGCGAGAACGAAA
CGACAAAAACGCAAGAAAACAATAAAACGCTAGAAAGCGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_005985	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA73861	(Get FASTA)	NCBI Sequence Viewer
	AAB36216	(Get FASTA)	NCBI Sequence Viewer
	AAH52566	(Get FASTA)	NCBI Sequence Viewer
	BAD92615	(Get FASTA)	NCBI Sequence Viewer
	CAH10619	(Get FASTA)	NCBI Sequence Viewer
	EAW51424	(Get FASTA)	NCBI Sequence Viewer
	EAW51425	(Get FASTA)	NCBI Sequence Viewer
	EAW51426	(Get FASTA)	NCBI Sequence Viewer
	Q13207	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_005985 ⟸ NM_005994

- UniProtKB:

Q13207 (UniProtKB/Swiss-Prot), A0A024QZ86 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MREPALAASAMAYHPFHAPRPADFPMSAFLAAAQPSFFPALALPPGALAKPLPDPGLAGAAAAA
AAAAAAAEAGLHVSALGPHPPAAHLRSLKSLEPEDEVEDDPKVTLEAKELWDQFHKLGTEMVIT
KSGRRMFPPFKVRVSGLDKKAKYILLMDIVAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDS
PATGEQWMAKPVAFHKLKLTNNISDKHGFTILNSMHKYQPRFHIVRANDILKLPYSTFRTYVFP
ETDFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLPSLRLYEEHCKPERDGAES
DASSCDPPPAREPPTSPGAAPSPLRLHRARAEEKSCAADSDPEPERLSEERAGAPLGRSPAPDS
ASPTRLTEPERARERRSPERGKEPAESGGDGPFGLRSLEKERAEARRKDEGRKEAAEGKEQGLA
PLVVQTDSASPLGAGHLPGLAFSSHLHGQQFFGPLGAGQPLFLHPGQFTMGPGAFSAMGMGHLL
ASVAGGGNGGGGGPGTAAGLDAGGLGPAASAASTAAPFPFHLSQHMLASQGIPMPTFGGLFPYP
YTYMAAAAAAASALPATSAAAAAAAAAGSLSRSPFLGSARPRLRFSPYQIPVTIPPSTSLLTTG
LASEGSKAAGGNSREPSPLPELALRKVGAPSRGALSPSGSAKEAANELQSIQRLVSGLESQRAL
SPGRESPK

hide 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 Assembly	Chr	Position (strand)	Source
Build 36	17	56,831,531 - 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 Assembly	Chr	Position (strand)	Source
GRCh38	17	61,399,883 - 61,399,943	EPDNEW

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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar

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