TCTN2 Chromosome 12
Tectonic family member 2
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What This Gene Does
This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Tectonic proteins|MKS complex"
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000168778
Associated Conditions (12)
Joubert syndrome 24
Meckel syndrome
type 8
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
TCTN2-related disorder
Sarcoma
Lung cancer
Uveal melanoma
type 6
Joubert syndrome and related disorders
Key Variants
RS116845100
Conflicting classifications of pathogenicity
Joubert syndrome 24, Meckel syndrome, type 8
Health Risk
RS117614122
Conflicting classifications of pathogenicity
Meckel syndrome, type 8, Joubert syndrome 24
Health Risk
RS1331215787
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome
Health Risk
RS137939978
Conflicting classifications of pathogenicity
Joubert syndrome 24, Meckel syndrome, type 8
Health Risk
RS139927033
Conflicting classifications of pathogenicity
Meckel syndrome, type 8, Joubert syndrome 24
Health Risk
RS141768405
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS144567556
Conflicting classifications of pathogenicity
Joubert syndrome 24, Meckel syndrome, type 8
Health Risk
RS146698907
Conflicting classifications of pathogenicity
Joubert syndrome 24, Meckel syndrome, type 8
Health Risk
RS147485641
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 24
Health Risk
RS149430216
Conflicting classifications of pathogenicity
Joubert syndrome 24, Meckel syndrome, type 8
Health Risk
RS151318349
Conflicting classifications of pathogenicity
Joubert syndrome 24, Meckel syndrome, type 8
Health Risk
RS1593828714
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 24
Health Risk
All Variants (82)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1216783170 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1306876740 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1955746650 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1956235509 | Health Risk | Pathogenic | Meckel syndrome, type 8, Joubert syndrome 24 |
| RS2135834102 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2135840135 | Health Risk | Pathogenic | — |
| RS2135847212 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2541746245 | Health Risk | Pathogenic | — |
| RS2541792114 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2541806985 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS748951253 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS757123597 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS774994149 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS786204788 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS797046040 | Health Risk | Pathogenic | Meckel syndrome, type 8, Meckel syndrome |
| RS863225221 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS863225222 | Health Risk | Pathogenic | Joubert syndrome, Meckel syndrome, type 8 |
| RS863225425 | Health Risk | Pathogenic | Joubert syndrome 24, Joubert syndrome 24 |
| RS863225426 | Health Risk | Pathogenic | Joubert syndrome 24, Joubert syndrome, Meckel-Gruber syndrome |
| RS915737037 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS924674737 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1408997904 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 24 |
| RS1956234424 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome and related disorders, Meckel syndrome, type 8 |
| RS2541798281 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome and related disorders, Meckel syndrome, type 8 |
| RS374349989 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 8, TCTN2-related disorder |
| RS746186338 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS754048525 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS754596743 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 8, Joubert syndrome 24 |
| RS757485757 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 24 |
| RS760034947 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 24 |
| RS760830696 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 8, Joubert syndrome 24 |
| RS863225220 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 24 |