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Gene ID: 57545 | CC2D2A Antibody Resource


CC2D2A Antibody Resource
Gene Full Name: 
coiled-coil and C2 domain containing 2A
Uniprot: 
Q9P2K1
Protein Name: 
coiled-coil and C2 domain-containing protein 2A
Nucleotide: 
NM_001080522
Alias: 
MKS6;JBTS9;
Ensembl: 
ENSG00000048342
Location: 
4p15.32
HPRD: 
NCBI Gene: 
57545
MIM: 
612013

Summary: 
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]
Function: 
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 .
Subcellular location: 
Cytoplasm. Cytoplasm › cytoskeleton › cilium basal body. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme .
PTM: 
Disease: 
Meckel syndrome 6 (MKS6) [MIM:612284]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Joubert syndrome 9 (JBTS9) [MIM:612285]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. COACH syndrome (COACHS) [MIM:216360]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP65635_P050 CC2D2A Antibody - N-terminal region (ARP65635_P050) Human WB 50ug $289 Details
Polyclonal Antibody ARP65636_P050 CC2D2A Antibody (ARP65636_P050) Polyclonal Human Not tested 50 ug $125 Details

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Product Images
CC2D2A Antibody - N-terminal region (ARP65635_P050) in Human MDA-MB-435S cells using Western Blot

Sample Type: Human MDA-MB-435S


CC2D2A Protocols
Publications

Related Gene Trend Categories
Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP38800 Bovine CC2D2A antibody; Bos taurus CC2D2A antibody E1B8U8 100.0%
ARP38800 Bovine CC2D2A antibody; Bos taurus CC2D2A antibody G3MZR0 100.0%
ARP65635 Chimpanzee CC2D2A antibody; Pan troglodytes CC2D2A antibody H2QP87 100.0%
ARP65635 Chimpanzee CC2D2A antibody; Pan troglodytes CC2D2A antibody K7DJD4 100.0%
ARP42857 Chimpanzee CC2D2A antibody; Pan troglodytes CC2D2A antibody H2QP87 91.0%
ARP42857 Chimpanzee CC2D2A antibody; Pan troglodytes CC2D2A antibody K7DJD4 91.0%
ARP65635 Human CC2D2A antibody; Homo sapiens CC2D2A antibody D6R9V3 100.0%
ARP65635 Human CC2D2A antibody; Homo sapiens CC2D2A antibody Q9P2K1-5 100.0%
ARP65636 Human CC2D2A antibody; Homo sapiens CC2D2A antibody Q9P2K1-5 100.0%
ARP65635 Human CC2D2A antibody; Homo sapiens CC2D2A antibody Q9P2K1-6 100.0%
ARP65635 Human CC2D2A antibody; Homo sapiens CC2D2A antibody Q9P2K1 100.0%
ARP50307 Human CC2D2A antibody; Homo sapiens CC2D2A antibody Q9P2K1-6 91.0%
ARP65635 Mouse CC2D2A antibody; Mus musculus CC2D2A antibody Q8CFW7 92.0%
ARP65635 Northern white-cheeked gibbon CC2D2A antibody; Nomascus leucogenys CC2D2A antibody G1S2T0 92.0%
ARP65636 Rhesus macaque CC2D2A antibody; Macaca mulatta CC2D2A antibody F7DRA4 91.0%
ARP52423 Western clawed frog CC2D2A antibody; Xenopus tropicalis CC2D2A antibody F6WIC2 86.0%
ARP52426 Western clawed frog CC2D2A antibody; Xenopus tropicalis CC2D2A antibody F6WIC2 86.0%
ARP62381 Western clawed frog CC2D2A antibody; Xenopus tropicalis CC2D2A antibody F6WIC2 85.0%
ARP65635 White-tufted-ear marmoset CC2D2A antibody; Callithrix jacchus CC2D2A antibody F7IPV4 100.0%
ARP65635 White-tufted-ear marmoset CC2D2A antibody; Callithrix jacchus CC2D2A antibody U3C6K0 92.0%
ARP65635 White-tufted-ear marmoset CC2D2A antibody; Callithrix jacchus CC2D2A antibody U3DBA4 92.0%

Tissue & Cell Line Gene Expression Data