Tbx2 MGI Mouse Gene Detail - MGI:98494

Symbol

Tbx2
Name

T-box 2

Feature Type

protein coding gene
IDs

MGI:98494
NCBI Gene: 21385
Gene Overview

MyGene.info: TBX2
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr11:85832615-85841948 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 51.34 cM
Mapping Data

5 experiments

SNPs within 2kb

37 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98494	protein coding gene	Chr11:85832551-85841948 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018883	protein coding gene	Chr11:87363722-87373137 (+)
A/J	MGP_AJ_G0018850	protein coding gene	Chr11:84005363-84014749 (+)
AKR/J	MGP_AKRJ_G0018820	protein coding gene	Chr11:86522082-86531491 (+)
BALB/cJ	MGP_BALBcJ_G0018823	protein coding gene	Chr11:84389219-84398616 (+)
C3H/HeJ	MGP_C3HHeJ_G0018637	protein coding gene	Chr11:86543875-86553261 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019275	protein coding gene	Chr11:90015593-90024990 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016908	protein coding gene	Chr11:81046330-81055682 (+)
CAST/EiJ	MGP_CASTEiJ_G0018192	protein coding gene	Chr11:87201916-87211318 (+)
CBA/J	MGP_CBAJ_G0018608	protein coding gene	Chr11:93812364-93821750 (+)
DBA/2J	MGP_DBA2J_G0018716	protein coding gene	Chr11:83578787-83588180 (+)
FVB/NJ	MGP_FVBNJ_G0018705	protein coding gene	Chr11:83077515-83086912 (+)
LP/J	MGP_LPJ_G0018786	protein coding gene	Chr11:87860974-87870360 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018732	protein coding gene	Chr11:93930089-93939486 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019315	protein coding gene	Chr11:86764158-86773538 (+)
PWK/PhJ	MGP_PWKPhJ_G0017961	protein coding gene	Chr11:84360778-84370164 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017753	protein coding gene	Chr11:86306407-86315979 (+)
WSB/EiJ	MGP_WSBEiJ_G0018243	protein coding gene	Chr11:86615983-86625380 (+)

Human Ortholog

TBX2, T-box transcription factor 2

Vertebrate Orthologs

10

Human Ortholog

TBX2, T-box transcription factor 2
Orthology source: HomoloGene, HGNC
Synonyms

VETD
Links

HGNC:11597

NCBI Gene ID: 6909

neXtProt AC: NX_Q13207

UniProt: Q13207
Chr Location

17q23.2; chr17:61399896-61409466 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 38123
1 human;1 mouse;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: TBX2
Protein SuperFamily

transcription factor Tbx2
Gene Tree

Tbx2

Diseases

1 with human TBX2 associations

				Human Disease	Mouse Models
				vertebral anomalies and variable endocrine and T-cell dysfunction IDs vertebral anomalies and variable endocrine and T-cell dysfunction DOID:0070345 OMIM:618223

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

19 phenotypes from 4 alleles in 6 genetic backgrounds
6 phenotypes from multigenic genotypes
1 images
33 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Chemically induced (other)

1
Targeted

9
Genomic Mutations

2 involving Tbx2
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display embryonic lethality with abnormal cardiac and vascular development, edema, and polydactyly.

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All GO Annotations

48
GO References

14

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1198
Tissues

342
cDNA Data

57
Literature Summary

131

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tbx2

ZFIN tbx2a, tbx2b

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Tbx2 interacts with 170 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

36
RefSeq

2
UniProt

2
CCDS

CCDS36266.1
UniGene

287052

Ensembl

ENSMUSG00000000093 (Evidence)
NCBI Gene

21385

			Length	Strain/Species	Flank
genomic	21385	NCBI Gene Model \| MGI Sequence Detail	9334	C57BL/6J	± kb
transcript	NM_009324	RefSeq \| MGI Sequence Detail	3562	C57BL/6
polypeptide	Q60707	UniProt \| EBI \| MGI Sequence Detail	711	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000016148 T-box transcription factor TBX2

(term hierarchy)
InterPro Domains

IPR008967 p53-like transcription factor, DNA-binding

IPR036960 T-box superfamily

IPR002070 Transcription factor, Brachyury

IPR001699 Transcription factor, T-box

IPR018186 Transcription factor, T-box, conserved site

IPR022582 Transcription factor, T-box, region of unknown function

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All nucleic 80

Genomic 4

cDNA 58

Primer pair 3

Other 15

Microarray probesets 5

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MGD-MRK-14731

Summaries

All 188

Developmental Gene Expression 131

Gene Ontology 14

Phenotypes 33
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:291779 Kolla L, et al., Characterization of the development of the mouse cochlear epithelium at the single cell level. Nat Commun. 2020 May 13;11(1):2389

TSS for Tbx2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr103856	Chr11:85832761-85832776 (+)	154 bp
Tssr103857	Chr11:85832801-85832827 (+)	199 bp
Tssr103858	Chr11:85832839-85832850 (+)	230 bp
Tssr103859	Chr11:85832925-85832949 (+)	322 bp
Tssr103860	Chr11:85832967-85832986 (+)	362 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 01/19/2021 MGI 6.16