Anti-Caspr2/CNTNAP2 Antibody Picoband® Fluoro488 Conjugated

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene. This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is ly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability.

Cell Biology, Co-Activators/Co-Repressors, Epigenetics and Nuclear Signaling, Nuclear Receptors, Nuclear Signaling Pathways, Proteasome / Ubiquitin, Proteolysis/Ubiquitin, Transcription, Transcription Factors, Ubiquitin & Ubiquitin Like Modifiers

Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway and the steroid hormone signaling pathway. Involved in regulating STAT3 signaling via inhibiting STAT3 DNA-binding and suppressing cell growth. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation (PubMed:21965678, PubMed:9388184) . Sumoylates CCAR2 which promotes its interaction with SIRT1 (PubMed:25406032) . Diminishes the sumoylation of ZFHX3 by preventing the colocalization of ZFHX3 with SUMO1 in the nucleus (PubMed:24651376) .

1. Abrahams, B. S., Tentler, D., Perederiy, J. V., Oldham, M. C., Coppola, G., Geschwind, D. H. Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc. Nat. Acad. Sci. 104: 17849-17854, 2007. 2. Alarcon, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., Nelson, S. F., Cantor, R. M., Geschwind, D. H. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82: 150-159, 2008. 3. Arking, D. E., Cutler, D. J., Brune, C. W., Teslovich, T. M., West, K., Ikeda, M., Rea, A., Guy, M., Lin, S., Cook, E. H., Jr., Chakravarti, A. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am. J. Hum. Genet. 82: 160-164, 2008.