Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Covered on Genetics Home Reference: Meckel syndromeJoubert syndromeFrom NCBI Gene: COACH syndromeJoubert syndrome 9Meckel syndrome type 6From UniProt: Meckel syndrome 6 (MKS6): A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. [MIM:612284] Joubert syndrome 9 (JBTS9): A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. [MIM:612285] COACH syndrome (COACHS): A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. [MIM:216360]

     From NCBI Gene: This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] From UniProt: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• CUTL1
• RORalpha2
• Nkx2-2
• Cdc5
• Nkx3-1 v1
• Nkx3-1

Tissue specificity:

Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart.

Developmental stage:

At Carnagie stage 13 (CS13, after 4 weeks of development) and CS14 CC2D2A is ubiquitously expressed, with a distinct signal in the spinal cord and limb buds. At CS17 CC2D2A continue to be widely expressedin particular throughout the central nervous system (CNS), lung, and digestive tract epithelia. At CS22 expression continues to be intense within the CNS, where strong and specific expression is observed in the eye and in external granular layer of cerebellum. CC2D2A expression is also observed in the costal perichondrium.

Biological Processes:

• Axoneme Assembly
• Camera-Type Eye Development
• Cilium Assembly
• Determination Of Left/Right Symmetry
• Embryonic Brain Development
• Heart Development
• Motile Cilium Assembly
• Neural Tube Closure
• Protein Localization To Ciliary Transition Zone
• Smoothened Signaling Pathway

*synonyms