CC2D2A sirna

CC2D2A siRNA (Human)

Cat. Num. AAA8203541

• Gene Names: CC2D2A; MKS6; JBTS9
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: CC2D2A; CC2D2A siRNA (Human); KIAA1345; Coiled-coil and C2 domain-containing protein 2A; CC2D2A sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: CC2D2A siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 1620

• Applicable Applications for CC2D2A sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human CC2D2A gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for CC2D2A sirna

siRNA to inhibit CC2D2A expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 197209974
• NCBI GeneID: 57545
• NCBI Accession #: NP_001073991.2
• NCBI GenBank Nucleotide #: NM_001080522.2
• UniProt Accession #: Q9P2K1; Q3SYP3; Q9H8A7; A6ND97; B3FW08; D6RB72; E7EP21; E9PEV5
• Molecular Weight: 12,607 Da
• NCBI Official Full Name: coiled-coil and C2 domain-containing protein 2A isoform a
• NCBI Official Synonym Full Names: coiled-coil and C2 domain containing 2A
• NCBI Official Symbol: CC2D2A
• NCBI Official Synonym Symbols: MKS6; JBTS9
• NCBI Protein Information: coiled-coil and C2 domain-containing protein 2A
• UniProt Protein Name: Coiled-coil and C2 domain-containing protein 2A
• Protein Family: Coiled-coil and C2 domain-containing protein
• UniProt Gene Name: CC2D2A
• UniProt Synonym Gene Names: KIAA1345
• UniProt Entry Name: C2D2A_HUMAN

NCBI Description

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]

Uniprot Description

CC2D2A: 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. Defects in CC2D2A are the cause of Meckel syndrome type 6 (MKS6). MKS is an autosomal recessive 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. Defects in CC2D2A are the cause of Joubert syndrome type 9 (JBTS9). JBTS is an autosomal recessive 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. Defects in CC2D2A are a cause of COACH syndrome (COACHS). It is 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 4p15.32

Cellular Component: cytoskeleton; cytosol

Biological Process: smoothened signaling pathway; organelle organization and biogenesis; cilium biogenesis

Disease: Meckel Syndrome, Type 6; Coach Syndrome; Joubert Syndrome 9