SCYL2 Chromosome 12
SCY1 like pseudokinase 2
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What This Gene Does
The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
"SCY1 like pseudokinases|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
12q23.1
Ensembl
ENSG00000136021
Associated Conditions (4)
Arthrogryposis multiplex congenita 4
neurogenic
with agenesis of the corpus callosum
Inborn genetic diseases
Key Variants
RS2135832560
Likely pathogenic
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
Health Risk
RS2135832798
Likely pathogenic
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
Health Risk
RS2500080530
Likely pathogenic
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
Health Risk
RS1474619680
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2096362304
Pathogenic
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
Health Risk
RS2500017861
Pathogenic
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
Health Risk
RS760124743
Pathogenic
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135832560 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |
| RS2135832798 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |
| RS2500080530 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |
| RS1474619680 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2096362304 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |
| RS2500017861 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |
| RS760124743 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |