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Validated All-in-One™ qPCR Primer for GJD2(NM_020660.3) Search again
Product ID:
HQP179901
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CX36, GJA9
Gene Description:
gap junction protein delta 2
Target Gene Accession:
NM_020660.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene is a member of the connexin gene family that is expressed predominantly in mammalian neurons. Connexins associate in groups of 6 and are organized radially around a central pore to form connexons. Each gap junction intercellular channel is formed by the conjunction of 2 connexons. [provided by RefSeq].
Gene References into function
- Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
- connexin 36 expression is regulated by the transcriptional repressor NRSF/REST
- 35delG mutation of the GJB2 gne is a risk for deafness
- Results of reporter gene analysis of Cx36 expression in transgenic mice suggest that Cx36 has functional roles not only in several types of neurons in the retina and central nervous system but also in excitable cells of the pancreas and adrenal gland.
- significant association between juvenile myoclonic epilepsy and a Polymorphism, Single Nucleotide within exon 2 of CX36.
- Intercellular coupling occurs between neuronal and microglial populations through Cx36 gap junctions; This has important implications for normal neural physiology and microglial responses in neuronopathology in the mammalian CNS.
- The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with juvenile myoclonic epilepsy.
- These data do not suggest that Panx2 or Cx36 could increase the risk of schizophrenia in the Japanese population.
- Beta cells are extensively coupled within pancreatic islets via exchanges of mostly positively charged molecules across Cx36 channels.
- The data show that Cx36 is a native protein of human pancreatic islets, which mediates the coupling of the insulin-producing beta-cells, and contributes to control beta-cell function by modulating gene expression.
- CaMKII and Cx36 were shown to be significantly colocalized in the inferior olive, a brainstem nucleus highly enriched in electrical synapses, indicating physical proximity of these proteins