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Tgfbr2 Gene 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
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    2852 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98729
 protein coding gene Chr9:115913361-116004431 (-)
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
    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
    neXtProt AC: NX_P37173
    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 Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    168 phenotypes from 12 alleles in 23 genetic backgrounds
    55 phenotypes from multigenic genotypes
    407 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
less
  • All GO Annotations
    145
  • GO References
    37
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

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
    1419
  • Tissues
    444
  • cDNA Data
    126
  • Literature Summary
    118
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide Q62312 UniProt | EBI | MGI Sequence Detail 567 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • 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)
    Molecular
    Reagents
    less
    • All nucleic 151
      Genomic 1
      cDNA 126
      Primer pair 22
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-15071, MGI:1923554, MGI:2143233
    References
    more
    • Summaries
      All 611
      Developmental Gene Expression 118
      Diseases 5
      Gene Ontology 37
      Phenotypes 407
    • Earliest
      J:1339 Massague J, Receptors for the TGF-beta family. Cell. 1992 Jun 26;69(7):1067-70
    • Latest
      J:358260 Tsukui T, et al., Alveolar fibroblast lineage orchestrates lung inflammation and fibrosis. Nature. 2024 Jul;631(8021):627-634
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory