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Mouse Anti-DCDC2 Recombinant Antibody (E-11) (CBMAB-D0339-YC)

Provided herein is a Mouse monoclonal antibody, which binds to Doublecortin Domain Containing 2 (DCDC2). The antibody can be used for immunoassay techniques, such as WB, IP, IF, ELISA.
See all DCDC2 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
E-11
Antibody Isotype
IgG
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
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!]

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
DOUBLECORTIN DOMAIN CONTAINING 2
Introduction
DCDC2 is a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene.
Entrez Gene ID
Human51473
Mouse195208
Rat291130
UniProt ID
HumanQ9UHG0
MouseQ5DU00
RatD3ZR10
Alternative Names
Doublecortin Domain Containing 2; RU2; Doublecortin Domain-Containing Protein 2; Deafness, Autosomal Recessive 66; Protein RU2S; KIAA1154;
Function
Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784).

May be involved in neuronal migration during development of the cerebral neocortex (By similarity).

Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779).
Biological Process
Cellular defense response Source: ProtInc
Cilium assembly Source: UniProtKB
Dendrite morphogenesis Source: GO_Central
Intracellular signal transduction Source: InterPro
Neuron migration Source: UniProtKB
Positive regulation of smoothened signaling pathway Source: GO_Central
Regulation of cilium assembly Source: UniProtKB
Regulation of Wnt signaling pathway Source: UniProtKB
Sensory perception of sound Source: UniProtKB
Cellular Location
Cilium axoneme; Cytoskeleton; Cilium; Kinocilium. Localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner.
Involvement in disease
Dyslexia 2 (DYX2):
A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.
Nephronophthisis 19 (NPHP19):
A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis.
Deafness, autosomal recessive, 66 (DFNB66):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Sclerosing cholangitis, neonatal (NSC):
An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities.

Syryn, H., Hoorens, A., Grammatikopoulos, T., Deheragoda, M., Symoens, S., Vande Velde, S., ... & De Bruyne, R. (2021). Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review. Clinical Genetics, 100(4), 447-452.

Perani, D., Scifo, P., Cicchini, G. M., Rosa, P. D., Banfi, C., Mascheretti, S., ... & Morrone, M. C. (2021). White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant. Experimental Brain Research, 239(9), 2725-2740.

Gabel, L. A., Voss, K., Johnson, E., Lindström, E. R., Truong, D. T., Murray, E. M., ... & Gruen, J. R. (2021). Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children. Developmental Neuroscience, 43(2), 116-133.

Vogel, G. F., Maurer, E., Entenmann, A., Straub, S., Knisely, A. S., Janecke, A. R., & Müller, T. (2020). Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation. European Journal of Human Genetics, 28(6), 840-844.

Riva, V., Mozzi, A., Forni, D., Trezzi, V., Giorda, R., Riva, S., ... & Mascheretti, S. (2019). The influence of DCDC2 risk genetic variants on reading: Testing main and haplotypic effects. Neuropsychologia, 130, 52-58.

Rendall, A. R., Perrino, P. A., LoTurco, J. J., & Fitch, R. H. (2019). Evaluation of visual motion perception ability in mice with knockout of the dyslexia candidate susceptibility gene Dcdc2. Genes, Brain and Behavior, 18(5), e12450.

DeMille, M. M., Tang, K., Mehta, C. M., Geissler, C., Malins, J. G., Powers, N. R., ... & Gruen, J. R. (2018). Worldwide distribution of the DCDC2 READ1 regulatory element and its relationship with phoneme variation across languages. Proceedings of the National Academy of Sciences, 115(19), 4951-4956.

Li, J. Q., Lu, Y., Qiu, Y. L., & Wang, J. S. (2018). Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review. Zhonghua er ke za zhi= Chinese Journal of Pediatrics, 56(8), 623-627.

Scerri, T. S., Macpherson, E., Martinelli, A., Wa, W. C., Monaco, A. P., Stein, J., ... & Paracchini, S. (2017). The DCDC2 deletion is not a risk factor for dyslexia. Translational psychiatry, 7(7), e1182-e1182.

Chen, Y., Zhao, H., Zhang, Y. X., & Zuo, P. X. (2017). DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children. Neural regeneration research, 12(2), 259.

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For research use only. Not intended for any clinical use.

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