Tgfbr2 MGI Mouse Gene Detail - MGI:98729 - transforming growth factor, beta receptor II

Symbol

Tgfbr2
Name

transforming growth factor, beta receptor II
Synonyms

1110020H15Rik, TbetaR-II, TbetaRII, TBR-II

Feature Type

protein coding gene
IDs

MGI:98729
NCBI Gene: 21813
Alliance

genome feature page
Transcription Start Sites

12 TSS
Regulated by

Rr207657, Rr246 (2 regulatory regions)

Sequence Map

Chr9:115916763-116004431 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 68.39 cM
Mapping Data

3 experiments

SNPs within 2kb

2852 from dbSNP Build 142
Strain Annotations

28
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98729	protein coding gene	Chr9:115913361-116004431 (-)
129S1/SvImJ	ENSMUSG00200028050	protein coding gene	Chr9:113022601-113112136 (-)
A/J	ENSMUSG00195027118	protein coding gene	Chr9:112202497-112298449 (-)
A/J	ENSMUSG00195027139	protein coding gene	Chr9:112203417-112204684 (-)
AKR/J	ENSMUSG00220018333	protein coding gene	Chr9:112670253-112758935 (-)
AKR/J	ENSMUSG00220018343	protein coding gene	Chr9:112671180-112672447 (-)
BALB/cJ	ENSMUSG00180023416	protein coding gene	Chr9:112740974-112742241 (-)
BALB/cJ	ENSMUSG00180023379	protein coding gene	Chr9:112740054-112836005 (-)
C3H/HeJ	ENSMUSG00175017854	protein coding gene	Chr9:112961873-113057830 (-)
C3H/HeJ	ENSMUSG00175017878	protein coding gene	Chr9:112962793-112964060 (-)
C57BL/6NJ	ENSMUSG00215013534	protein coding gene	Chr9:112862348-112951009 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032782	protein coding gene	Chr9:111526103-111613633 (-)
CAST/EiJ	ENSTCUG00005015308	protein coding gene	Chr9:112640760-112729554 (-)
CBA/J	ENSMUSG00210035955	protein coding gene	Chr9:112707266-112795914 (-)
CBA/J	ENSMUSG00210036163	protein coding gene	Chr9:112708193-112709460 (-)
DBA/2J	ENSMUSG00185016599	protein coding gene	Chr9:113041360-113130021 (-)
DBA/2J	ENSMUSG00185016612	protein coding gene	Chr9:113042287-113043554 (-)
FVB/NJ	ENSMUSG00205015289	protein coding gene	Chr9:112866894-112868161 (-)
FVB/NJ	ENSMUSG00205015239	protein coding gene	Chr9:112865974-112961919 (-)
JF1/MsJ	ENSUMUG00000042159	protein coding gene	Chr9:112870092-112963079 (-)
LP/J	ENSMUSG00230033134	protein coding gene	Chr9:113151175-113240689 (-)
NOD/ShiLtJ	ENSMUSG00190014967	protein coding gene	Chr9:112619371-112708031 (-)
NOD/ShiLtJ	ENSMUSG00190014971	protein coding gene	Chr9:112620298-112621565 (-)
NZO/HlLtJ	ENSMUSG00225023203	protein coding gene	Chr9:113424287-113520221 (-)
NZO/HlLtJ	ENSMUSG00225023214	protein coding gene	Chr9:113425208-113426475 (-)
PWK/PhJ	ENSLUMG00010030806	protein coding gene	Chr9:112806176-112898989 (-)
SPRET/EiJ	ENSMSPG00010023397	protein coding gene	Chr9:114475060-114565078 (-)
WSB/EiJ	ENSIUOG00005019091	protein coding gene	Chr9:112093241-112189920 (-)

Human Ortholog

TGFBR2, transforming growth factor beta receptor 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TGFBR2, transforming growth factor beta receptor 2
Synonyms

AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, tbetaR-II, TBR-ii, TBRII, TGFbeta-RII, TGFR-2
Links

HGNC:11773

NCBI Gene ID: 7048

UniProt: P37173
Chr Location

3p24.1; chr3:30606356-30694249 (+) GRCh38

MGI Vertebrate Homology

Tgfbr2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: TGFBR2
Protein SuperFamily

TGFRII
Gene Tree

Tgfbr2

Diseases

4 with Tgfbr2 mouse models; 8 with human TGFBR2 associations

Human Disease

Mouse Models

cleft soft palate

IDs

View 1 model

DiGeorge syndrome

IDs

View 1 model

Loeys-Dietz syndrome

IDs

View 1 model

prostate cancer

IDs

View 1 model

colon cancer

IDs

esophagus squamous cell carcinoma

IDs

hereditary nonpolyposis colorectal cancer type 6

IDs

Loeys-Dietz syndrome 2

IDs

Lynch syndrome

IDs

Marfan syndrome

IDs

mismatch repair cancer syndrome

IDs

pancreatic cancer

IDs

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

Mutations/Alleles

4 with disease annotations

References

6 with disease annotations

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Phenotype Summary

169 phenotypes from 13 alleles in 24 genetic backgrounds
55 phenotypes from multigenic genotypes
484 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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

22
Endonuclease-mediated

8
Targeted

13
Transgenic

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

40 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations die in midgestation with impaired yolk sac hematopoiesis and vasculogenesis. Selective knockouts in bone marrow cells and cranial neural crest show inflammation and cleft palate/calvarial defects, respectively.

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All GO Annotations

180
GO References

39

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

1324
Tissues

452
cDNA Data

126
Literature Summary

119

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA TGFBR2

Xenbase tgfbr2

ZFIN tgfbr2b

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All Sequences

62
RefSeq

4
UniProt

7
CCDS

CCDS23601.1, CCDS23602.1

Ensembl

ENSMUSG00000032440 (Evidence)
NCBI Gene

21813

			Length	Strain/Species	Flank
genomic	21813	NCBI Gene Model \| MGI Sequence Detail	87669	C57BL/6J	± kb
transcript	NM_009371	RefSeq \| MGI Sequence Detail	4803	ZRU/MplStud
polypeptide	Q62312	UniProt \| EBI \| MGI Sequence Detail	567	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000000005 TGF-beta receptor type-2

(term hierarchy)
EC

2.7.11.30
InterPro Domains

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site

IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain

IPR000333 Ser/Thr protein kinase, TGFB receptor

IPR045860 Snake toxin-like superfamily

IPR015013 Transforming growth factor beta receptor 2 ectodomain

IPR017194 Transforming growth factor-beta receptor, type II
GlyGen

Q62312 2 sites, 1 N-linked glycan (1 site)

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All nucleic 151

Genomic 1

cDNA 126

Primer pair 22

Other 2

Antibodies 14

Microarray probesets 6

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MGD-MRK-15071, MGI:1923554, MGI:2143233

Summaries

All 706

Developmental Gene Expression 119

Diseases 6

Gene Ontology 39

Phenotypes 484
Earliest

J:1339 Massague J, Receptors for the TGF-beta family. Cell. 1992 Jun 26;69(7):1067-70
Latest

J:390302 Petrova TV, et al., Eosinophils promote a second wave of postnatal smooth muscle differentiation in intestinal villi. J Cell Biol. 2026 Jul 6;225(7)

Tgfbr2 expression regulated by:

Feature	Feature Type	Location	Reference
Rr207657, regulatory region 207657	enhancer	Chr9:115961402-115970199	J:316526
Rr246, regulatory region 246	enhancer	Chr9:116212458-116213606	J:316526

TSS for Tgfbr2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr91924	Chr9:116004969-116004996 (-)	-552 bp
Tssr91923	Chr9:116004784-116004800 (-)	-361 bp
Tssr91922	Chr9:116004508-116004519 (-)	-83 bp
Tssr91921	Chr9:116004386-116004397 (-)	39 bp
Tssr91920	Chr9:116004334-116004373 (-)	77 bp
Tssr91919	Chr9:116004265-116004329 (-)	134 bp
Tssr91918	Chr9:116004244-116004253 (-)	182 bp
Tssr91917	Chr9:116004208-116004221 (-)	216 bp
Tssr91916	Chr9:116002170-116002174 (-)	2,259 bp
Tssr91915	Chr9:115999463-115999468 (-)	4,965 bp
Tssr91914	Chr9:115919235-115919246 (-)	85,190 bp
Tssr91913	Chr9:115918615-115918634 (-)	85,806 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)
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