Tgfb3 transforming growth factor, beta 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tgfb3provided by MGI
Official Full Name: transforming growth factor, beta 3provided by MGI
Primary source: MGI:MGI:98727
See related: Ensembl:ENSMUSG00000021253 AllianceGenome:MGI:98727
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tgfb-3; TGF-beta-3
Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Homozygous knockout mice for this gene exhibit cleft palate, delayed pulmonary development and neonatal death. [provided by RefSeq, Aug 2016]
Expression: Broad expression in limb E14.5 (RPKM 30.0), ovary adult (RPKM 18.2) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 D2; 12 40.09 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (86103517..86125815, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (86056743..86079041, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TGF-beta3 mediates mitochondrial dynamics through the p-Smad3/AMPK pathway.
Title: TGF-β3 mediates mitochondrial dynamics through the p-Smad3/AMPK pathway.
Lack of Elevated Expression of TGFbeta3 Contributes to the Delay of Epithelial Wound Healing in Diabetic Corneas.
Title: Lack of Elevated Expression of TGFβ3 Contributes to the Delay of Epithelial Wound Healing in Diabetic Corneas.
Up-regulation of CREB-1 regulates tendon adhesion in the injury tendon healing through the CREB-1/TGF-beta3 signaling pathway.
Title: Up-regulation of CREB-1 regulates tendon adhesion in the injury tendon healing through the CREB-1/TGF-β3 signaling pathway.
Latent transforming growth factor beta binding protein 3 controls adipogenesis.
Title: Latent transforming growth factor β binding protein 3 controls adipogenesis.
Upregulation of key genes Eln and Tgfb3 were associated with the severity of cardiac hypertrophy.
Title: Upregulation of key genes Eln and Tgfb3 were associated with the severity of cardiac hypertrophy.
Dedifferentiated Schwann cell-derived TGF-beta3 is essential for the neural system to promote wound healing.
Title: Dedifferentiated Schwann cell-derived TGF-β3 is essential for the neural system to promote wound healing.
Transforming growth factor beta3 deficiency promotes defective lipid metabolism and fibrosis in murine kidney.
Title: Transforming growth factor β3 deficiency promotes defective lipid metabolism and fibrosis in murine kidney.
Diverse Signaling by TGFbeta Isoforms in Response to Focal Injury is Associated with Either Retinal Regeneration or Reactive Gliosis.
Title: Diverse Signaling by TGFβ Isoforms in Response to Focal Injury is Associated with Either Retinal Regeneration or Reactive Gliosis.
SMAD2 overexpression rescues the TGF-beta3 null mutant mice cleft palate by increased apoptosis.
Title: SMAD2 overexpression rescues the TGF-β3 null mutant mice cleft palate by increased apoptosis.
the involvement of Socs3 in Runx1-Tgfb3 signaling might explain, at least in part, the anteriorly specific downregulation of Tgfb3 expression and Stat3 activity in Runx1 mutants. This is the first study to show that the novel Runx1-Stat3-Tgfb3 axis is essential in anterior palatogenesis.
Title: Runx1-Stat3-Tgfb3 signaling network regulating the anterior palatal development.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (8) 1 citation

General gene information

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Markers

RH94855 (e-PCR)
- UniSTS:120101

Tgfb3 (e-PCR), detects polymorphism
- UniSTS:496699

Tgfb3 (e-PCR), detects polymorphism
- UniSTS:480353

Tgfb3 (e-PCR), detects polymorphism
- UniSTS:536425

PMC135637P1 (e-PCR)
- UniSTS:270762

AW323130 (e-PCR)
- UniSTS:208843

Tgfb3 (e-PCR), detects polymorphism
- UniSTS:144613

M32745 (e-PCR)
- UniSTS:160240

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor binding	IEA Inferred from Electronic Annotation more info
enables type I transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables type II transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables type III transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell junction organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of hypoxia	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryo development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic neurocranium morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in face morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in face morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mammary gland development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of macrophage cytokine production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vascular associated smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of collagen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tight junction disassembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to estrogen	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in response to progesterone	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in secondary palate development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: transforming growth factor beta-3 proprotein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009368.3 → NP_033394.2 transforming growth factor beta-3 proprotein precursor

See identical proteins and their annotated locations for NP_033394.2

Status: REVIEWED

Source sequence(s)

AC134328, AK162560, AW122646, BC089347

Consensus CDS

CCDS49116.1

UniProtKB/TrEMBL

Q3UFN7, Q91YU7

Related

ENSMUSP00000003687.7, ENSMUST00000003687.8

Conserved Domains (2) summary

pfam00688
Location:24 → 230

TGFb_propeptide; TGF-beta propeptide

cd19386
Location:312 → 412

TGF_beta_TGFB3; transforming growth factor beta (TGF-beta) like domain found in transforming growth factor beta-3 (TGF-beta-3) and similar proteins