About   Help   FAQ
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
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:116087695-116175363 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 68.39 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    672 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98729
protein coding gene Chr9:116084293-116175363 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035400
protein coding gene Chr9:118657611-118751207 (-)
A/J MGP_AJ_G0035380
protein coding gene Chr9:114260878-114353108 (-)
AKR/J MGP_AKRJ_G0035313
protein coding gene Chr9:117205316-117295560 (-)
BALB/cJ MGP_BALBcJ_G0035376
protein coding gene Chr9:114063995-114154443 (-)
C3H/HeJ MGP_C3HHeJ_G0035084
protein coding gene Chr9:117708571-117801667 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035899
protein coding gene Chr9:121875876-121970840 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032782
protein coding gene Chr9:111526103-111613633 (-)
CAST/EiJ MGP_CASTEiJ_G0034389
protein coding gene Chr9:117593063-117687598 (-)
CBA/J MGP_CBAJ_G0035051
protein coding gene Chr9:126443925-126541066 (-)
DBA/2J MGP_DBA2J_G0035210
protein coding gene Chr9:113741783-113829932 (-)
FVB/NJ MGP_FVBNJ_G0035157
protein coding gene Chr9:112575981-112668597 (-)
LP/J MGP_LPJ_G0035289
protein coding gene Chr9:118985526-119079212 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035198
protein coding gene Chr9:127615463-127708595 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035918
protein coding gene Chr9:117576487-117666484 (-)
PWK/PhJ MGP_PWKPhJ_G0034095
protein coding gene Chr9:114036500-114154217 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033929
protein coding gene Chr9:117644156-117733432 (-)
WSB/EiJ MGP_WSBEiJ_G0034509
protein coding gene Chr9:117463440-117558186 (-)



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: HGNC, HomoloGene
  • 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; 1 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
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
less
  • Phenotype Summary
    161 phenotypes from 11 alleles in 21 genetic backgrounds
    126 phenotypes from multigenic genotypes
    336 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
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.
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 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.
Expression
less
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
    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 501
      Developmental Gene Expression 96
      Diseases 9
      Gene Ontology 32
      Phenotypes 336
    • Earliest
      J:1339 Massague J, Receptors for the TGF-beta family. Cell. 1992 Jun 26;69(7):1067-70
    • Latest
      J:265050 Chleilat E, et al., TGF-beta Signaling Regulates Development of Midbrain Dopaminergic and Hindbrain Serotonergic Neuron Subgroups. Neuroscience. 2018 Jun 15;381:124-137

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory