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Tgfbr2 Gene Detail
Summary
  • Symbol
    Tgfbr2
  • Name
    transforming growth factor, beta receptor II
  • Synonyms
    1110020H15Rik, TbetaRII, TbetaR-II, TBR-II
  • Feature Type
    protein coding gene
  • IDs
    MGI:98729
    NCBI Gene: 21813
  • Gene Overview
    MyGene.info: TGFBR2
Location & Maps
more
  • Sequence Map
    Chr9:116087698-116175363 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      87666 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 68.39 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    TGFBR2, transforming growth factor beta receptor 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TGFBR2, transforming growth factor beta receptor 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TGFbeta-RII, TGFR-2
  • Links
    NCBI Gene ID: 7048
    neXtProt AC: NX_P37173

  • Chr Location
    3p24.1; chr3:30606493-30694142 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Tgfbr2 mouse models; 3 with human TGFBR2 associations

Human Disease Mouse Models
       Loeys-Dietz Syndrome 2; LDS2   OMIM: 610168 View 1 model
       Cleft Soft Palate   OMIM: 119570 View 1 model
DiGeorge Syndrome; DGS   OMIM: 188400 View 1 model
Prostate Cancer   OMIM: 176807 View 1 model
       Colorectal Cancer, Hereditary Nonpolyposis, Type 6; HNPCC6   OMIM: 614331
Esophageal Cancer   OMIM: 133239
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    149 phenotypes from 11 alleles in 19 genetic backgrounds
    85 phenotypes from multigenic genotypes
    270 phenotype references
Phenotype Overview

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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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.
Expression
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Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032440 Ensembl Gene Model | MGI Sequence Detail 87666 C57BL/6J ±  kb
transcript ENSMUST00000061101 Ensembl | MGI Sequence Detail 4785 Not Applicable  
polypeptide ENSMUSP00000062333 Ensembl | MGI Sequence Detail 592 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    672 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 131
    Genomic 1
    cDNA 122
    Primer pair 8

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-15071, MGI:1923554, MGI:2143233
References
more
  • Summaries
    All 338
    Developmental Gene Expression 84
    Diseases 6
    Gene Ontology 27
    Phenotypes 270
  • Earliest
    J:1339 Massague J, Receptors for the TGF-beta family. Cell. 1992 Jun 26;69(7):1067-70
  • Latest
    J:235622 Parsa R, et al., TGFbeta regulates persistent neuroinflammation by controlling Th1 polarization and ROS production via monocyte-derived dendritic cells. Glia. 2016 Nov;64(11):1925-37

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory