TGIF1 TGFB induced factor homeobox 1
Gene ID: 7050, updated on 27-Nov-2024Gene type: protein coding
Also known as: HPE4; TGIF
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- Go to complete Gene record for TGIF1
- Go to Variation Viewer for TGIF1 variants
Summary
The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. GeneReviews: Not available | |
| Holoprosencephaly 4 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-05-10) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-05-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 18p11.31
- Sequence:
- Chromosome: 18; NC_000018.10 (3412009..3459978)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TGIF1 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
- TGIF1 database
- Variation ViewerRelated Variants
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