EXOC3L2

exocyst complex component 3 like 2

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000283632
UniProt:: Q2M3D2
OMIM:: 616927
Synonyms:: FLJ36147, XTP7

Ciliogenesis screen results (1 screens)

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
Human ciliopathy phenotype:: brain malformation renal syndrome

Ciliopathy associations

Dandy-Walker Malformation

References: PMID:30327448

Subcellular localization

flagella, golgi apparatus, mid piece, nucleoli, nucleoplasm, vesicles

References: PMID:25613900

Functional category

RTK/FGF signaling

Function

Mutations in EXOC3L2 cause Dandy–Walker malformation, (PMID: 30327448). EXOC3L2 has located in flagella.

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