TGFB1 transforming growth factor beta 1
Gene ID: 7040, updated on 8-Oct-2024Gene type: protein coding
Also known as: CED; LAP; DPD1; TGFB; IBDIMDE; TGFbeta; TGF-beta1
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- Go to complete Gene record for TGFB1
- Go to Variation Viewer for TGFB1 variants
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 TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Cystic fibrosis | See labs |
Diaphyseal dysplasia | See labs |
Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available | |
Inflammatory bowel disease, immunodeficiency, and encephalopathy | See labs |
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (41330323..41353922, complement)
- Total number of exons:
- 7
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for TGFB1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TGFB1 homepage
- Variation ViewerRelated Variants
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