Sign in or Register   Sign in or Register
  |  

Mouse Anti-CEP290 Recombinant Antibody (2C10G2) (CBMAB-XB0244-YC)

Provided herein is a Mouse Recombinant Antibody against Centrosomal Protein 290. The antibody can be used for immunoassay techniques, such as IHC, IF, WB.
See all CEP290 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
2C10G2
Antibody Isotype
IgG2b
Application
IHC, IF, WB

Basic Information

Immunogen
CEP290 Fusion Protein Ag17457
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG2b
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Antibody
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Centrosomal Protein 290
Introduction
CEP290 is a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer.
Entrez Gene ID
80184
UniProt ID
O15078
Alternative Names
Centrosomal Protein 290; Cancer/Testis Antigen 87; Bardet-Biedl Syndrome 14 Protein; Centrosomal Protein 290kDa; Meckel Syndrome, Type 4; Tumor Antigen Se2-2; Nephrocystin-6; BBS14; NPHP6; CT87; POC3 Centriolar Protein Homolog (Chlamydomonas); Recombinant Antibody 3H11 Antigen; POC3 Centriolar Protein Homolog; Centrosomal Protein Of 290 KDa; Prostate Cancer Antigen T21;
Function
Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559).
May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332).
Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity).
Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300).
In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity).
Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655).
Activates ATF4-mediated transcription (PubMed:16682973).
Biological Process
Ciliary basal body-plasma membrane docking Source: Reactome
Cilium assembly Source: UniProtKB
Eye photoreceptor cell development Source: HGNC-UCL
G2/M transition of mitotic cell cycle Source: Reactome
Hindbrain development Source: HGNC-UCL
Neutrophil degranulation Source: Reactome
Otic vesicle formation Source: HGNC-UCL
Positive regulation of intracellular protein transport Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: HGNC-UCL
Pronephros development Source: HGNC-UCL
Protein transport Source: UniProtKB
Regulation of establishment of protein localization Source: MGI
Regulation of G2/M transition of mitotic cell cycle Source: Reactome
Cellular Location
Nucleus; Centrosome; Centriolar satellite; Cilium basal body; Centriole; Cilium; Cytoplasmic vesicle. Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (PubMed:24121310). Found in the connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells (By similarity). Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:23943788). Localization at the ciliary transition zone as well as at centriolar satellites is BBsome-dependent (PubMed:23943788).
Involvement in disease
Joubert syndrome 5 (JBTS5): 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. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
Senior-Loken syndrome 6 (SLSN6): A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
Leber congenital amaurosis 10 (LCA10):
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Meckel syndrome 4 (MKS4): 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.
Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population.
Bardet-Biedl syndrome 14 (BBS14): A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
PTM
Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause it displacement from centriolar satellites.

Wu, Z., Pang, N., Zhang, Y., Chen, H., Peng, Y., Fu, J., & Wei, Q. (2020). CEP290 is essential for the initiation of ciliary transition zone assembly. PLoS Biology, 18(12), e3001034.

Zhang, R., Chen, S., Han, P., Chen, F., Kuang, S., Meng, Z., ... & Banerjee, S. (2020). Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. Journal of cellular and molecular medicine, 24(2), 1906-1916.

Datta, P., Hendrickson, B., Brendalen, S., Ruffcorn, A., & Seo, S. (2019). The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors. Journal of Biological Chemistry, 294(50), 19119-19136.

Lessieur, E. M., Song, P., Nivar, G. C., Piccillo, E. M., Fogerty, J., Rozic, R., & Perkins, B. D. (2019). Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. PloS one, 14(4), e0213960.

Itoh, M., Ide, S., Iwasaki, Y., Saito, T., Narita, K., Dai, H., ... & Arima, M. (2018). Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. Brain and Development, 40(4), 259-267.

Kilander, M. B., Wang, C. H., Chang, C. H., Nestor, J. E., Herold, K., Tsai, J. W., ... & Lin, Y. C. (2018). A rare human CEP290 variant disrupts the molecular integrity of the primary cilium and impairs Sonic Hedgehog machinery. Scientific reports, 8(1), 1-14.

Duijkers, L., Van den Born, L. I., Neidhardt, J., Bax, N. M., Pierrache, L. H., Klevering, B. J., ... & Garanto, A. (2018). Antisense oligonucleotide-based splicing correction in individuals with Leber congenital amaurosis due to compound heterozygosity for the c. 2991+ 1655A> G mutation in CEP290. International journal of molecular sciences, 19(3), 753.

Ask a question We look forward to hearing from you.
0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Loading...
Have you used Mouse Anti-CEP290 Recombinant Antibody (2C10G2)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon $30 eGift Card
Submit a review
Loading...
For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

Online Inquiry

Documents

Contact us

  • Tel: (USA)
  • (UK)
  • Fax:
  • Email:

Submit A Review

Go to
Compare