DACT1 Chromosome 14
Dishevelled binding antagonist of beta catenin 1
Upload your DNA to see your personal genotypes for variants in DACT1.
What This Gene Does
The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Dishevelled binding antagonist of beta catenin family
Locus Type
gene with protein product
Location
14q23.1
Ensembl
ENSG00000165617
Associated Conditions (4)
Townes-Brocks syndrome 2
DACT1-related disorder
Townes syndrome
DACT1-related neural tube defects
Key Variants
RS139223977
Conflicting classifications of pathogenicity
Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
Health Risk
RS141135250
Conflicting classifications of pathogenicity
DACT1-related disorder, Townes syndrome, DACT1-related disorder
Health Risk
RS143444064
Conflicting classifications of pathogenicity
DACT1-related disorder, DACT1-related disorder
Health Risk
RS147190910
Conflicting classifications of pathogenicity
Townes syndrome, Townes syndrome
Health Risk
RS564164674
Conflicting classifications of pathogenicity
Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
Health Risk
RS749354343
Conflicting classifications of pathogenicity
Health Risk
RS750573800
Conflicting classifications of pathogenicity
Health Risk
RS754474567
Conflicting classifications of pathogenicity
Health Risk
RS1555329832
Likely pathogenic
DACT1-related neural tube defects, DACT1-related neural tube defects
Health Risk
RS2140219280
Likely pathogenic
Health Risk
RS1064797092
Pathogenic
Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
Health Risk
RS1215157114
Pathogenic
Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139223977 | Health Risk | Conflicting classifications of pathogenicity | Townes-Brocks syndrome 2, Townes-Brocks syndrome 2 |
| RS141135250 | Health Risk | Conflicting classifications of pathogenicity | DACT1-related disorder, Townes syndrome, DACT1-related disorder |
| RS143444064 | Health Risk | Conflicting classifications of pathogenicity | DACT1-related disorder, DACT1-related disorder |
| RS147190910 | Health Risk | Conflicting classifications of pathogenicity | Townes syndrome, Townes syndrome |
| RS564164674 | Health Risk | Conflicting classifications of pathogenicity | Townes-Brocks syndrome 2, Townes-Brocks syndrome 2 |
| RS749354343 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750573800 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754474567 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555329832 | Health Risk | Likely pathogenic | DACT1-related neural tube defects, DACT1-related neural tube defects |
| RS2140219280 | Health Risk | Likely pathogenic | — |
| RS1064797092 | Health Risk | Pathogenic | Townes-Brocks syndrome 2, Townes-Brocks syndrome 2 |
| RS1215157114 | Health Risk | Pathogenic | Townes-Brocks syndrome 2, Townes-Brocks syndrome 2 |
| RS201251394 | Health Risk | Pathogenic | Townes-Brocks syndrome 2, Townes-Brocks syndrome 2 |
| RS2544733362 | Health Risk | Pathogenic | Townes-Brocks syndrome 2, Townes-Brocks syndrome 2 |
| RS369268433 | Health Risk | Pathogenic | Townes-Brocks syndrome 2, Townes-Brocks syndrome 2 |