TGIF1 Chromosome 18
TGFB induced factor homeobox 1
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What This Gene Does
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]
Gene Info
Gene Group
TALE class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
18p11.31
Ensembl
ENSG00000177426
Associated Conditions (3)
Holoprosencephaly 4
Disorder of sexual differentiation
TGIF1-related disorder
Key Variants
RS114912664
Conflicting classifications of pathogenicity
Holoprosencephaly 4, Holoprosencephaly 4
Health Risk
RS11571509
Conflicting classifications of pathogenicity
Disorder of sexual differentiation, Disorder of sexual differentiation
Health Risk
RS121909066
Conflicting classifications of pathogenicity
Holoprosencephaly 4, Holoprosencephaly 4
Health Risk
RS148390122
Conflicting classifications of pathogenicity
TGIF1-related disorder, Holoprosencephaly 4, TGIF1-related disorder
Health Risk
RS202123354
Conflicting classifications of pathogenicity
Holoprosencephaly 4, Holoprosencephaly 4
Health Risk
RS202189171
Conflicting classifications of pathogenicity
TGIF1-related disorder, Holoprosencephaly 4, TGIF1-related disorder
Health Risk
RS1555651112
Likely pathogenic
Health Risk
RS2510032473
Likely pathogenic
Holoprosencephaly 4, Holoprosencephaly 4
Health Risk
RS2510043843
Likely pathogenic
Holoprosencephaly 4, Holoprosencephaly 4
Health Risk
RS2510046143
Likely pathogenic
Health Risk
RS886041249
Likely pathogenic
Health Risk
RS1057517835
Pathogenic
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114912664 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 4, Holoprosencephaly 4 |
| RS11571509 | Health Risk | Conflicting classifications of pathogenicity | Disorder of sexual differentiation, Disorder of sexual differentiation |
| RS121909066 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 4, Holoprosencephaly 4 |
| RS148390122 | Health Risk | Conflicting classifications of pathogenicity | TGIF1-related disorder, Holoprosencephaly 4, TGIF1-related disorder |
| RS202123354 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 4, Holoprosencephaly 4 |
| RS202189171 | Health Risk | Conflicting classifications of pathogenicity | TGIF1-related disorder, Holoprosencephaly 4, TGIF1-related disorder |
| RS1555651112 | Health Risk | Likely pathogenic | — |
| RS2510032473 | Health Risk | Likely pathogenic | Holoprosencephaly 4, Holoprosencephaly 4 |
| RS2510043843 | Health Risk | Likely pathogenic | Holoprosencephaly 4, Holoprosencephaly 4 |
| RS2510046143 | Health Risk | Likely pathogenic | — |
| RS886041249 | Health Risk | Likely pathogenic | — |
| RS1057517835 | Health Risk | Pathogenic | — |
| RS121909067 | Health Risk | Pathogenic | Holoprosencephaly 4, Holoprosencephaly 4 |
| RS121909070 | Health Risk | Pathogenic | Holoprosencephaly 4, Holoprosencephaly 4 |
| RS1555650923 | Health Risk | Pathogenic | Holoprosencephaly 4, Holoprosencephaly 4 |
| RS2510045920 | Health Risk | Pathogenic | Holoprosencephaly 4, Holoprosencephaly 4 |