TTLL5 Chromosome 14
Tubulin tyrosine ligase like 5
Upload your DNA to see your personal genotypes for variants in TTLL5.
What This Gene Does
This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Tubulin tyrosine ligase family
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119685
Associated Conditions (9)
Cone-rod dystrophy 19
Inborn genetic diseases
Retinal dystrophy
TTLL5-related disorder
Ovarian serous cystadenocarcinoma
Cone-rod dystrophy
Colon adenocarcinoma
Central areolar choroidal dystrophy
Retinitis pigmentosa
Key Variants
RS142169707
Conflicting classifications of pathogenicity
Health Risk
RS142465256
Conflicting classifications of pathogenicity
Cone-rod dystrophy 19, Cone-rod dystrophy 19
Health Risk
RS17849666
Conflicting classifications of pathogenicity
Health Risk
RS185326652
Conflicting classifications of pathogenicity
Health Risk
RS189135452
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2503347872
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS573319891
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753057666
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS765401548
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772723003
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778408194
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781316021
Conflicting classifications of pathogenicity
TTLL5-related disorder, Retinal dystrophy, TTLL5-related disorder
Health Risk
All Variants (98)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1891670149 | Health Risk | Pathogenic | — |
| RS199882533 | Health Risk | Pathogenic | Cone-rod dystrophy 19, Cone-rod dystrophy 19, Retinal dystrophy |
| RS2030231685 | Health Risk | Pathogenic | — |
| RS2030237603 | Health Risk | Pathogenic | — |
| RS2139945350 | Health Risk | Pathogenic | — |
| RS2140023956 | Health Risk | Pathogenic | — |
| RS2140122597 | Health Risk | Pathogenic | — |
| RS2140236907 | Health Risk | Pathogenic | — |
| RS2140258948 | Health Risk | Pathogenic | — |
| RS2140319419 | Health Risk | Pathogenic | — |
| RS2140331365 | Health Risk | Pathogenic | — |
| RS2140331555 | Health Risk | Pathogenic | — |
| RS2503009266 | Health Risk | Pathogenic | — |
| RS2503122941 | Health Risk | Pathogenic | — |
| RS2503134264 | Health Risk | Pathogenic | — |
| RS2503278888 | Health Risk | Pathogenic | — |
| RS2503347922 | Health Risk | Pathogenic | — |
| RS2503652732 | Health Risk | Pathogenic | — |
| RS2504215863 | Health Risk | Pathogenic | Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS2504323828 | Health Risk | Pathogenic | — |
| RS367693933 | Health Risk | Pathogenic | — |
| RS377702881 | Health Risk | Pathogenic | — |
| RS541400148 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS587777469 | Health Risk | Pathogenic | Cone-rod dystrophy 19, Cone-rod dystrophy, Cone-rod dystrophy 19 |
| RS587777470 | Health Risk | Pathogenic | Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS587777471 | Health Risk | Pathogenic | Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS746069709 | Health Risk | Pathogenic | — |
| RS754048173 | Health Risk | Pathogenic | — |
| RS754950305 | Health Risk | Pathogenic | — |
| RS757823284 | Health Risk | Pathogenic | — |
| RS759929075 | Health Risk | Pathogenic | — |
| RS760158148 | Health Risk | Pathogenic | — |
| RS768090063 | Health Risk | Pathogenic | — |
| RS770811029 | Health Risk | Pathogenic | — |
| RS774889687 | Health Risk | Pathogenic | Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS775585293 | Health Risk | Pathogenic | — |
| RS777359273 | Health Risk | Pathogenic | Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS778784486 | Health Risk | Pathogenic | — |
| RS924419805 | Health Risk | Pathogenic | — |
| RS1439202144 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS1555344661 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1595168879 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1887576038 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS745934202 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy |
| RS753018563 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS769845921 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS772656461 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS781415819 | Health Risk | Pathogenic/Likely pathogenic | TTLL5-related disorder, TTLL5-related disorder |