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Tgfbr2Gene Detail
Summary
  • 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
  • Transcription Start Sites
    12 TSS
  • Regulated by
    Rr207657, Rr246(2 regulatory regions)
Location &
Maps
more
  • Sequence Map
    Chr9:115916763-116004431 bp, - strand
    From NCBI annotation of GRCm39
  • View this region inJBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 9, 68.39 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2855from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
StrainGene Model IDFeature TypeCoordinatesSelect Strains
C57BL/6JMGI_C57BL6J_98729
protein coding geneChr9:115913361-116004431 (-)
129S1/SvImJMGP_129S1SvImJ_G0035400
protein coding geneChr9:118657611-118751207 (-)
A/JMGP_AJ_G0035380
protein coding geneChr9:114260878-114353108 (-)
AKR/JMGP_AKRJ_G0035313
protein coding geneChr9:117205316-117295560 (-)
BALB/cJMGP_BALBcJ_G0035376
protein coding geneChr9:114063995-114154443 (-)
C3H/HeJMGP_C3HHeJ_G0035084
protein coding geneChr9:117708571-117801667 (-)
C57BL/6NJMGP_C57BL6NJ_G0035899
protein coding geneChr9:121875876-121970840 (-)
CAROLI/EiJMGP_CAROLIEiJ_G0032782
protein coding geneChr9:111526103-111613633 (-)
CAST/EiJMGP_CASTEiJ_G0034389
protein coding geneChr9:117593063-117687598 (-)
CBA/JMGP_CBAJ_G0035051
protein coding geneChr9:126443925-126541066 (-)
DBA/2JMGP_DBA2J_G0035210
protein coding geneChr9:113741783-113829932 (-)
FVB/NJMGP_FVBNJ_G0035157
protein coding geneChr9:112575981-112668597 (-)
LP/JMGP_LPJ_G0035289
protein coding geneChr9:118985526-119079212 (-)
NOD/ShiLtJMGP_NODShiLtJ_G0035198
protein coding geneChr9:127615463-127708595 (-)
NZO/HlLtJMGP_NZOHlLtJ_G0035918
protein coding geneChr9:117576487-117666484 (-)
PWK/PhJMGP_PWKPhJ_G0034095
protein coding geneChr9:114036500-114154217 (-)
SPRET/EiJMGP_SPRETEiJ_G0033929
protein coding geneChr9:117644156-117733432 (-)
WSB/EiJMGP_WSBEiJ_G0034509
protein coding geneChr9:117463440-117558186 (-)



Homology
more
  • Human Ortholog
    TGFBR2, transforming growth factor beta receptor 2
  • Vertebrate Orthologs
    3
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
    NCBI Gene ID:7048
    UniProt:P37173

  • Chr Location
    3p24.1; chr3:30606356-30694249(+)  GRCh38
Human Diseases
more
  • Diseases
    4 with Tgfbr2 mouse models;8 with human TGFBR2 associations

Human DiseaseMouse Models
    
IDs
cleft soft palate      
View 1 model
Mouse Models

Human Disease Modeled: cleft soft palate

Allelic CompositionGenetic BackgroundReferencePhenotypes
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
Tg(KRT14-cre)52Smr/0
involves: 129S6/SvEvTac * C57BL/6J * SJL/JJ:208431View
IDs
DiGeorge syndrome      

DOID:11198
ICD10CM:D82.1
ICD9CM:279.11
MESH:D004062
NCI:C2989
OMIM:188400
UMLS_CUI:C0012236

View 1 model
Mouse Models

Human Disease Modeled: DiGeorge syndrome

Allelic CompositionGenetic BackgroundReferencePhenotypes
Tgfbr2tm1Karl/Tgfbr2tm1Karl
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBAJ:96359View
IDs
Loeys-Dietz syndrome      

DOID:0050466
MESH:D055947
NCI:C75006
ORDO:60030
UMLS_CUI:C1836635
UMLS_CUI:C2697932

View 1 model
Mouse Models

Human Disease Modeled: Loeys-Dietz syndrome

Allelic CompositionGenetic BackgroundReferencePhenotypes
Tgfbr2tm1.1Hcd/Tgfbr2+
129S6(Cg)-Tgfbr2tm1.1HcdJ:204960View
IDs
View 1 model
Mouse Models

Human Disease Modeled: prostate cancer

Allelic CompositionGenetic BackgroundReferencePhenotypes
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
Tg(Col1a2-cre/ERT,-ALPP)7Cpd/0
involves: 129S6/SvEvTac * C57BL/6 * DBA/2J:204736View
    
IDs
colon cancer      

DOID:219
ICD10CM:C18
ICD9CM:153
ICD9CM:153.9
MESH:D003110
NCI:C9242
UMLS_CUI:C0007102

IDs
esophagus squamous cell carcinoma      
IDs
hereditary nonpolyposis colorectal cancer type 6      
IDs
Loeys-Dietz syndrome 2      
IDs
Lynch syndrome      

DOID:3883
DOID:0050586
DOID:3040
MESH:D003123
NCI:C8494
OMIM:PS120435
ORDO:144
UMLS_CUI:C0009405
UMLS_CUI:C4552100

IDs
Marfan syndrome      

DOID:14323
ICD10CM:Q87.4
ICD9CM:759.82
MESH:D008382
NCI:C34807
OMIM:154700
UMLS_CUI:C0024796

IDs
mismatch repair cancer syndrome      
IDs
pancreatic cancer      

DOID:1793
DOID:14356
DOID:1797
DOID:3588
DOID:9859
ICD10CM:C25.0
ICD10CM:C25.1
ICD10CM:C25.2
ICD9CM:157.0
ICD9CM:157.1
ICD9CM:157.2
ICD9CM:157.8
KEGG:05212
MESH:D010190
NCI:C3305
ORDO:1333
ORDO:217074
UMLS_CUI:C0030297
UMLS_CUI:C0153458
UMLS_CUI:C0153459
UMLS_CUI:C0153460
UMLS_CUI:C0153463


  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    168 phenotypesfrom 12 allelesin 23 genetic backgrounds
    55 phenotypes from multigenic genotypes
    424 phenotype references
Phenotype Overview

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.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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.
Expression
less
Expression Overview

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.


Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic21813NCBI Gene Model |MGI Sequence Detail87669C57BL/6J± kb
transcriptNM_009371RefSeq |MGI Sequence Detail4803ZRU/MplStud 
polypeptideQ62312UniProt |EBI |MGI Sequence Detail567Not Applicable 
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic151
    Genomic1
    cDNA126
    Primer pair22
    Other2

    Microarray probesets6
Other
Accession IDs
less
MGD-MRK-15071, MGI:1923554, MGI:2143233
References
more
  • Summaries
    All623
    Developmental Gene Expression118
    Diseases5
    Gene Ontology19
    Phenotypes424
  • Earliest
    J:1339 Massague J, Receptors for the TGF-beta family. Cell. 1992 Jun 26;69(7):1067-70
  • Latest
    J:364555 Chan H, et al., Psychological stress increases skin infection through the action of TGFbeta to suppress immune-acting fibroblasts. Sci Immunol. 2025 Apr 11;10(106):eads0519
Tgfbr2 expression regulated by:
FeatureFeature TypeLocationReference
Rr207657, regulatory region 207657enhancerChr9:115961402-115970199J:316526
Rr246, regulatory region 246enhancerChr9:116212458-116213606J:316526
TSS for Tgfbr2:
(View these features inJBrowse)
Transcription Start SiteLocationDistance from Gene 5'-end
Tssr91924Chr9:116004969-116004996 (-)-552 bp
Tssr91923Chr9:116004784-116004800 (-)-361 bp
Tssr91922Chr9:116004508-116004519 (-)-83 bp
Tssr91921Chr9:116004386-116004397 (-)39 bp
Tssr91920Chr9:116004334-116004373 (-)77 bp
Tssr91919Chr9:116004265-116004329 (-)134 bp
Tssr91918Chr9:116004244-116004253 (-)182 bp
Tssr91917Chr9:116004208-116004221 (-)216 bp
Tssr91916Chr9:116002170-116002174 (-)2,259 bp
Tssr91915Chr9:115999463-115999468 (-)4,965 bp
Tssr91914Chr9:115919235-115919246 (-)85,190 bp
Tssr91913Chr9:115918615-115918634 (-)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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.		 last database update
03/25/2025
MGI 6.24		The Jackson Laboratory
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