TMEM138 Chromosome 11
Transmembrane protein 138
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What This Gene Does
This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Associated Conditions (6)
Joubert syndrome 16
Inborn genetic diseases
TMEM138-related disorder
Joubert syndrome and related disorders
Meckel-Gruber syndrome
Uterine corpus endometrial carcinoma
Key Variants
RS141029883
Conflicting classifications of pathogenicity
Joubert syndrome 16, Inborn genetic diseases, Joubert syndrome 16
Health Risk
RS145939072
Conflicting classifications of pathogenicity
Joubert syndrome 16, Joubert syndrome 16
Health Risk
RS147966742
Conflicting classifications of pathogenicity
Joubert syndrome 16, Joubert syndrome 16
Health Risk
RS149327827
Conflicting classifications of pathogenicity
Joubert syndrome 16, Joubert syndrome 16
Health Risk
RS201318247
Conflicting classifications of pathogenicity
Joubert syndrome 16, TMEM138-related disorder, Joubert syndrome 16
Health Risk
RS2135158146
Conflicting classifications of pathogenicity
Joubert syndrome 16, Joubert syndrome 16
Health Risk
RS387907135
Conflicting classifications of pathogenicity
Joubert syndrome 16, Joubert syndrome and related disorders, Joubert syndrome 16
Health Risk
RS548368196
Conflicting classifications of pathogenicity
Joubert syndrome 16, Joubert syndrome 16
Health Risk
RS569659022
Conflicting classifications of pathogenicity
Joubert syndrome 16, Inborn genetic diseases, Joubert syndrome 16
Health Risk
RS775913576
Conflicting classifications of pathogenicity
Joubert syndrome 16, Joubert syndrome 16
Health Risk
RS2539860779
Likely pathogenic
Health Risk
RS886039804
Likely pathogenic
Meckel-Gruber syndrome, Meckel-Gruber syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141029883 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Inborn genetic diseases, Joubert syndrome 16 |
| RS145939072 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Joubert syndrome 16 |
| RS147966742 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Joubert syndrome 16 |
| RS149327827 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Joubert syndrome 16 |
| RS201318247 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, TMEM138-related disorder, Joubert syndrome 16 |
| RS2135158146 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Joubert syndrome 16 |
| RS387907135 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Joubert syndrome and related disorders, Joubert syndrome 16 |
| RS548368196 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Joubert syndrome 16 |
| RS569659022 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Inborn genetic diseases, Joubert syndrome 16 |
| RS775913576 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 16, Joubert syndrome 16 |
| RS2539860779 | Health Risk | Likely pathogenic | — |
| RS886039804 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Meckel-Gruber syndrome |
| RS146264153 | Health Risk | Pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS1554970010 | Health Risk | Pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS2135153244 | Health Risk | Pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS2135163033 | Health Risk | Pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS387907134 | Health Risk | Pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS774110963 | Health Risk | Pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS2539869968 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS387907132 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS387907133 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS771224190 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 16, Joubert syndrome 16 |
| RS917404097 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 16, Joubert syndrome and related disorders, Uterine corpus endometrial carcinoma |