TUB Chromosome 11
TUB bipartite transcription factor
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What This Gene Does
This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Autism spectrum disorder
Retinal dystrophy
TUB-related disorder
Retinal dystrophy and obesity
Uterine corpus endometrial carcinoma
Cervical cancer
Key Variants
RS769088023
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1040410003
Conflicting classifications of pathogenicity
Retinal dystrophy, TUB-related disorder, Retinal dystrophy
Health Risk
RS150402974
Conflicting classifications of pathogenicity
Retinal dystrophy and obesity, TUB-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS189328202
Conflicting classifications of pathogenicity
TUB-related disorder, TUB-related disorder
Health Risk
RS756044431
Conflicting classifications of pathogenicity
Health Risk
RS757174356
Conflicting classifications of pathogenicity
TUB-related disorder, TUB-related disorder
Health Risk
RS766861656
Conflicting classifications of pathogenicity
TUB-related disorder, TUB-related disorder
Health Risk
RS776753352
Conflicting classifications of pathogenicity
Retinal dystrophy and obesity, Retinal dystrophy and obesity
Health Risk
RS2539296291
Likely pathogenic
Health Risk
RS1032858847
Pathogenic
Health Risk
RS1250737342
Pathogenic
Health Risk
RS1944064401
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769088023 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS1040410003 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, TUB-related disorder, Retinal dystrophy |
| RS150402974 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy and obesity, TUB-related disorder, Uterine corpus endometrial carcinoma |
| RS189328202 | Health Risk | Conflicting classifications of pathogenicity | TUB-related disorder, TUB-related disorder |
| RS756044431 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757174356 | Health Risk | Conflicting classifications of pathogenicity | TUB-related disorder, TUB-related disorder |
| RS766861656 | Health Risk | Conflicting classifications of pathogenicity | TUB-related disorder, TUB-related disorder |
| RS776753352 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy and obesity, Retinal dystrophy and obesity |
| RS2539296291 | Health Risk | Likely pathogenic | — |
| RS1032858847 | Health Risk | Pathogenic | — |
| RS1250737342 | Health Risk | Pathogenic | — |
| RS1944064401 | Health Risk | Pathogenic | — |
| RS2133852526 | Health Risk | Pathogenic | — |
| RS2539288898 | Health Risk | Pathogenic | — |
| RS727502810 | Health Risk | Pathogenic | Retinal dystrophy and obesity, Retinal dystrophy and obesity |
| RS759016192 | Health Risk | Pathogenic | — |
| RS759921094 | Health Risk | Pathogenic | — |
| RS1589996458 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy and obesity, Retinal dystrophy and obesity |