CC2D2A

coiled-coil and C2 domain containing 2A

The information on this page was automatically extracted from online scientific databases.

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • COACH syndrome
  • Joubert syndrome 9
  • Meckel syndrome type 6

From 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]

Cytogenetic Location: 4p15.32, which is the short (p) arm of chromosome 4 at position 15.32

Molecular Location: base pairs 15,468,660 to 15,601,971 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4p15.32, which is the short (p) arm of chromosome 4 at position 15.32
  • JBTS9
  • MKS6