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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
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:116087695-116175363 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      87669 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, TBR-ii, TBRII, TGFbeta-RII, TGFR-2
  • Links
    NCBI Gene ID: 7048
    neXtProt AC: NX_P37173
    UniProt: P37173

  • Chr Location
    3p24.1; chr3:30606490-30694142 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    151 phenotypes from 11 alleles in 19 genetic backgrounds
    131 phenotypes from multigenic genotypes
    322 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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21813 NCBI Gene Model | MGI Sequence Detail 87669 C57BL/6J ±  kb
    transcript NM_009371 RefSeq | MGI Sequence Detail 4803 C57BL/6  
    polypeptide Q62312 UniProt | EBI | MGI Sequence Detail 592 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      672 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 135
      Genomic 1
      cDNA 125
      Primer pair 9

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-15071, MGI:1923554, MGI:2143233
    References
    more
    • Summaries
      All 484
      Developmental Gene Expression 94
      Diseases 9
      Gene Ontology 30
      Phenotypes 322
    • Earliest
      J:1339 Massague J, Receptors for the TGF-beta family. Cell. 1992 Jun 26;69(7):1067-70
    • Latest
      J:262618 Aldeiri B, et al., Abrogation of TGF-beta signalling in TAGLN expressing cells recapitulates Pentalogy of Cantrell in the mouse. Sci Rep. 2018 Feb 26;8(1):3658

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory