TULP3 Chromosome 12
TUB like protein 3
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What This Gene Does
This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
Associated Conditions (2)
Hepatorenocardiac degenerative fibrosis
Inborn genetic diseases
Key Variants
RS547315819
Conflicting classifications of pathogenicity
Hepatorenocardiac degenerative fibrosis, Inborn genetic diseases, Hepatorenocardiac degenerative fibrosis
Health Risk
RS201665307
Pathogenic
Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
Health Risk
RS202037575
Pathogenic
Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
Health Risk
RS2536387265
Pathogenic
Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
Health Risk
RS760523025
Pathogenic
Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
Health Risk
RS761172007
Pathogenic
Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
Health Risk
RS924744512
Pathogenic
Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS547315819 | Health Risk | Conflicting classifications of pathogenicity | Hepatorenocardiac degenerative fibrosis, Inborn genetic diseases, Hepatorenocardiac degenerative fibrosis |
| RS201665307 | Health Risk | Pathogenic | Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis |
| RS202037575 | Health Risk | Pathogenic | Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis |
| RS2536387265 | Health Risk | Pathogenic | Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis |
| RS760523025 | Health Risk | Pathogenic | Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis |
| RS761172007 | Health Risk | Pathogenic | Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis |
| RS924744512 | Health Risk | Pathogenic | Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis |