Recombinant Human Contactin-Associated Protein-Like 2 (CNTNAP2) Protein (His)

Name: Recombinant Human Contactin-Associated Protein-Like 2 (CNTNAP2) Protein (His)
Brand: Beta LifeScience
SKU: BLC-07793P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Contactin-Associated Protein-Like 2 (CNTNAP2) Protein (His) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	Q9UHC6
Target Symbol	CNTNAP2
Synonyms	Cell recognition molecule Caspr2
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His
Target Protein Sequence	CDEPLVSGLPHGAFSSSSSISGSYSPGYAKINKRGGAGGWSPSDSDHYQWLQVDFGNRKQISAIATQGRYSSSDWVTQYRMLYSDTGRNWKPYHQDGNIWAFPGNINSDGVVRHELQHPVIARYVRVVPLDWNGEGRIGLRIEVYGC
Expression Range	35-181aa
Protein Length	Partial
Mol. Weight	20.4 kDa
Research Area	Neuroscience
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.
Subcellular Location	Membrane; Single-pass type I membrane protein. Cell projection, axon. Cell junction, paranodal septate junction.
Protein Families	Neurexin family
Database References	HGNC: 13830 OMIM: 604569 KEGG: hsa:26047 STRING: 9606.ENSP00000354778 UniGene: PMID: 30017804 Study screened 28 autosomal dominant epilepsy with auditory features (ADEAF) families for mutations in CNTNAP2 by next generation sequencing and copy number variation analyses and found no likely pathogenic mutations segregating with the disease. CNTNAP2 should be screened in genetically unsolved ADEAF families, but causative mutations are expected to be infrequent in this gene. PMID: 29179159 This study evaluated a possible association between ASD and the presence of five single nucleotide polymorph-isms (rs7794745, rs10500171, rs2710105,rs2710102, and rs2538989 ) in CNTNAP2in the Korean population. The genetic variants in CNTNAP2 do not play a role in ASD affection possibility in this study, but evidence suggests that one SNP(rs10500171) might be associated with sociality-relatedphenotypes in Koreans PMID: 27574960 In utero CASPR2-IgG exposed neonates achieved milestones similarly to healthy control-IgG exposed but, when adult, the CASPR2-IgG exposed progeny showed marked social interaction deficits, abnormally located glutamatergic neurons in layers V-VI of the somatosensory cortex, a 16% increase in activated microglia, and a 15-52% decrease in glutamatergic synapses in layers of the prefrontal and somatosensory cortices. PMID: 28755208 the selective distribution of Caspr2 and TAG-1 may be regulated, allowing them to modulate the strategic function of the Kv1 complex along axons PMID: 28533267 The clinical phenotypes of anti-LGI1 encephalitis and anti-Caspr2 encephalitis have been described in more detail including data on treatment and long-term follow-up. Lumping patients with anti-LGI1, anti-Caspr2 antibodies or lacking both, should be considered obsolete--{REVIEW} PMID: 28248701 Subjects with greater left dorsolateral prefrontal cortex (DLPFC) surface area had better cognitive performance. Importantly, the left DLPFC surface area mediated the association between the CNTNAP2 rs4726946 genotype and cognitive performance. This study provides the first evidence for associations among the CNTNAP2 gene, left DLPFC structure, and cognitive control. PMID: 27916731 associations of a common CNTNAP2 polymorphism (rs7794745) with variation in grey matter in a region in the dorsal visual stream PMID: 27059522 Bi-allelic aberrations (mutations and copy number variants) in CNTNAP2 in eight individuals with intellectual disability and epilepsy were reported. PMID: 27439707 Older age is a strong predictor of CNS involvement in patients seropositive for CASPR2-IgG or LGI1-IgG. Pain, peripheral manifestations, and stereotypic paroxysmal dizziness spells are common with LGI1-IgG. PMID: 28628235 Caspr2 antibodies associate with a treatable disorder that predominantly affects elderly men. The resulting syndrome may vary among patients but it usually includes a set of well-established symptoms. PMID: 27371488 The molecular shape and dimensions of CNTNAP2 place constraints on how CNTNAP2 integrates in the cleft of axo-glial and neuronal contact sites and how it functions as an organizing and adhesive molecule. PMID: 27621318 A significant association was found between rs7794745 CNTNAP2 gene polymorphism and autism in an Iranian population. PMID: 28284582 rs7794745 in the CNTNAP2 gene was associated with autistic spectrum disorder in Brazilian patients. PMID: 26909962 we could not detect any significant association with the CNTNAP2 gene and high functioning autism PMID: 26559825 CNTNAP2 is transcriptionally regulated by FOXP2. PMID: 26497390 Structurally, CASPR2 is highly glycosylated and has an overall compact architecture. CASPR2 associates with micromolar affinity with CNTN1 but, under the same conditions, it does not interact with any of the other members of the contactin family. PMID: 26721881 Results indicate that the CNTNAP2 gene may confer vulnerability to speech sound disorder PMID: 25895914 The study of zebrafish mutants of the ASD risk gene, CNTNAP2, and its differential responses to psychoactive agents reveals the strength of this approach to identify molecular mechanisms PMID: 26833134 Deletions within CNTNAP2 were found in two children with CAS but not in any of the children with SLI. These findings suggest that genetic variation within CNTNAP2 may be related to speech production deficits. PMID: 26097074 A genetic and functional characterization study of the CNTNAP2 promoter in autism spectrum disorders PMID: 25224256 A new male-specific association with aging is reported for a CNV in the CNTNAP2 gene. esv11910 ins allele was inversely associated with healthy aging in men. PMID: 25139204 We find no evidence for statistically significant association of rare heterozygous mutations in any of the CNTN or CNTNAP genes, including CNTNAP2, placing marked limits on the scale of their plausible contribution to risk. PMID: 25621974 Encompassing CNTNAP2 exon 3. PMID: 25045150 Study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering PMID: 24807205 The role of CNTNAP2 in diverse neurological disorders. [Review] PMID: 23714751 Widespread cortex DNA methylation changes in CNTNAP2 since the human-chimpanzee split, supporting a role for CNTNAP2 fine-regulation in human-specific language and communication traits. PMID: 24434791 In demyelinating disease, major lesions in the three anti-contactin-associated protein 2 Ab-positive subjects were infratentorial, including one co-carrying anti-AQP4 Abs. PMID: 25027061 CNTNAP2 gene decreases the risk of alcohol addiction in female. PMID: 25041903 study suggests that although CNTNAP2 dysregulation plays a role in some cases, its population contribution to autism susceptibility is limited. PMID: 24147096 Homozygous deletions or gene mutations in CNTNAP2 and SMARCB1 associated with malignant rhabdoid tumors. PMID: 24418192 This study presented new evidence about the effects of CNTNAP2 on brain connectivity, whose disruption has been hypothesized to be central to schizophrenia pathophysiology. PMID: 23871450 The results of this study found that the genotypes of rs17236239 were significantly associated with schizophrenia and the alleles of rs2710102 and rs2710117 were significantly associated with major depression PMID: 23123147 No evidence for the association of FOXP2 and CNTNAP2 genes with language traits was observed in this analysis. PMID: 23277129 CNTNAP2 expression is downregulated by STOX1A in the hippocampus of Alzheimer's disease patients. PMID: 22728895 While both AA homozygotes and T-carriers showed a standard N400 effect to semantic anomalies, the response to subject-verb agreement violations differed across CNTNAP2 genotype groups PMID: 23115634 CASPR2 immunoglobulin G (IgG) seropositivity was associated with peripheral motor excitability. PMID: 23407760 these data indicate that CASPR2-D1129H has severe trafficking abnormalities and CASPR2-1253* is a secreted soluble protein, suggesting that the structural or signaling functions of the membrane tethered form are lost PMID: 22872700 We investigated the association between the SNPs rs2107856 and rs2141388 and PEX in Polish population. PMID: 22429864 Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints. PMID: 22948383 In graph theory analyses young adults with autism who are homozygous for the risk allele in CNTNAP2 have lower characteristic path length, greater small-worldness and global efficiency in whole brain analyses and greater eccentricity in regional analyses. PMID: 22500773 data suggest that in addition to the previously described role of CASPR2 in mature neurons, where CASPR2 organizes nodal microdomains of myelinated axons PMID: 23074245 The variants, rs1404699 and rs7803992, of CNTNAP2 are associated with exfoliation syndrome in the Japanese population. PMID: 22690117 Neurobiological, genetic, and imaging data provide strong evidence for the CNTNAP2 gene as a risk factor for ASD and related neurodevelopmental disorders. [Review] PMID: 22365836 risk associated variation in the CNTNAP2 gene impacts on brain activation in healthy non-autistic individuals during a language processing task providing evidence of the effect of genetic variation in CNTNAP2 on a core feature of autism spectrum disorders PMID: 21987501 The mutational testing found heterozygous splice-site, frameshift mutation and stop mutations in CNTNAP2 in four patients. PMID: 21827697 Our study suggests that common variants in the exon 13-15 region of CNTNAP2 influence early language acquisition, as assessed at age 2, in the general population. PMID: 21310003 For a number of genes affected by de novo copy number variants (CNVs) in autism (CNTNAP2, ZNF214, ARID1B, Proline Dehydrogenase), reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment. PMID: 21448237 These findings suggest a partially shared etiology between autism spectrum disorders and selective mutism with at least some aspects being influenced by CNTNAP2. PMID: 21193173 Caspr2 is an autoantigen of encephalitis and peripheral nerve hyperexcitability previously attributed to voltage-gated potassium channels antibodies. PMID: 21387375

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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