EXOC3L2
exocyst complex component 3 like 2
- Ensembl:
- ENSG00000283632
- UniProt:
- Q2M3D2
- OMIM:
- 616927
- Synonyms:
- FLJ36147, XTP7
Cilia effects upon perturbation of EXOC3L2
Ciliogenesis screen results (1 screen)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse phenotype:
- increased circulating iron level; abnormal incisor morphology; abnormal tooth morphology; abnormal embryo size; decreased grip strength; preweaning lethality; complete penetrance; impaired glucose tolerance; increased circulating serum albumin level; decreased heart weight; abnormal snout morphology
- Mouse ciliopathy phenotype:
- abnormal cranium morphology
- Human ciliopathy phenotype:
- brain malformation renal syndrome
Ciliopathy associations
- Dandy-Walker Malformation
Subcellular localization
flagella, golgi apparatus, mid piece, nucleoli, nucleoplasm, vesicles
Functional category
- RTK/FGF signaling
Function
Mutations in EXOC3L2 cause Dandy–Walker malformation, (PMID: 30327448). EXOC3L2 has located in flagella.