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Tgfb3 Gene Detail
Summary
  • Symbol
    Tgfb3
  • Name
    transforming growth factor, beta 3
  • Synonyms
    Tgfb-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:98727
    NCBI Gene: 21809
Location & Maps
more
  • Sequence Map
    Chr12:86056744-86079041 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22298 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 40.09 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    TGFB3, transforming growth factor beta 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TGFB3, transforming growth factor beta 3
    Orthology source: HomoloGene
  • Synonyms
    ARVD, ARVD1, LDS5, RNHF, TGF-beta3
  • Links
    NCBI Gene ID: 7043
    neXtProt AC: NX_P10600

  • Chr Location
    14q24; chr14:75958097-75982991 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human TGFB3 associations

Human Disease Mouse Models
       Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; ARVD1   OMIM: 107970
Loeys-Dietz Syndrome 5; LDS5   OMIM: 615582
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 7 alleles in 9 genetic backgrounds
    29 phenotypes from multigenic genotypes
    54 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.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Targeted
    9
  • Genomic Mutations
    1 involving Tgfb3
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit cleft palate, lung hypoplasia, hemothorax, impaired suckling, respiratory distress, and neonatal lethality.
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 ENSMUSG00000021253 Ensembl Gene Model | MGI Sequence Detail 22298 C57BL/6J ±  kb
transcript ENSMUST00000003687 Ensembl | MGI Sequence Detail 3384 Not Applicable  
polypeptide ENSMUSP00000003687 Ensembl | MGI Sequence Detail 412 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    131 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000000184 TGF-beta 3
  • InterPro Domains
    IPR029034 Cystine-knot cytokine
    IPR016319 Transforming growth factor-beta
    IPR015618 Transforming growth factor beta-3
    IPR017948 Transforming growth factor beta, conserved site
    IPR001839 Transforming growth factor-beta, C-terminal
    IPR001111 Transforming growth factor-beta, N-terminal
    IPR015615 Transforming growth factor-beta-related
Molecular
Reagents
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  • All nucleic 124
    cDNA 110
    Primer pair 7
    Other 7

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-15066, MGD-MRK-15069
References
more
  • Summaries
    All 216
    Developmental Gene Expression 125
    Gene Ontology 17
    Phenotypes 54
  • Earliest
    J:9636 Barton DE, et al., Chromosomal mapping of genes for transforming growth factors beta 2 and beta 3 in man and mouse: dispersion of TGF-beta gene family. Oncogene Res. 1988;3(4):323-31
  • Latest
    J:232434 Huang H, et al., Ablation of the Sox11 Gene Results in Clefting of the Secondary Palate Resembling the Pierre Robin Sequence. J Biol Chem. 2016 Mar 25;291(13):7107-18

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
07/19/2016
MGI 6.04
The Jackson Laboratory