Recombinant Human Contactin-associated protein-like 2 (CNTNAP2), partial

Code CSB-YP887030HU
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Source Yeast
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Code CSB-EP887030HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP887030HU
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Source Baculovirus
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Code CSB-MP887030HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
CNTNAP2
Uniprot No.
Alternative Names
AUTS15; CDFE; Cell recognition molecule Caspr2; CNTNAP2; CNTP2; CNTP2_HUMAN; Contactin-associated protein-like 2; Homolog of Drosophila neurexin IV; NRXN4; PTHSL1
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

Customer Reviews and Q&A

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Target Background

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.
Gene References into Functions
  1. After adjustment for the false discovery rate (FDR), two SNPs (rs3779031, rs987456) of CNTNAP2 were associated with developmental dyslexia risk in females but not in males. PMID: 30017804
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. associations of a common CNTNAP2 polymorphism (rs7794745) with variation in grey matter in a region in the dorsal visual stream PMID: 27059522
  9. Bi-allelic aberrations (mutations and copy number variants) in CNTNAP2 in eight individuals with intellectual disability and epilepsy were reported. PMID: 27439707
  10. 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
  11. 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
  12. 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
  13. A significant association was found between rs7794745 CNTNAP2 gene polymorphism and autism in an Iranian population. PMID: 28284582
  14. rs7794745 in the CNTNAP2 gene was associated with autistic spectrum disorder in Brazilian patients. PMID: 26909962
  15. we could not detect any significant association with the CNTNAP2 gene and high functioning autism PMID: 26559825
  16. CNTNAP2 is transcriptionally regulated by FOXP2. PMID: 26497390
  17. 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
  18. Results indicate that the CNTNAP2 gene may confer vulnerability to speech sound disorder PMID: 25895914
  19. 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
  20. 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
  21. A genetic and functional characterization study of the CNTNAP2 promoter in autism spectrum disorders PMID: 25224256
  22. 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
  23. 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
  24. Encompassing CNTNAP2 exon 3. PMID: 25045150
  25. 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
  26. The role of CNTNAP2 in diverse neurological disorders. [Review] PMID: 23714751
  27. 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
  28. 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
  29. CNTNAP2 gene decreases the risk of alcohol addiction in female. PMID: 25041903
  30. study suggests that although CNTNAP2 dysregulation plays a role in some cases, its population contribution to autism susceptibility is limited. PMID: 24147096
  31. Homozygous deletions or gene mutations in CNTNAP2 and SMARCB1 associated with malignant rhabdoid tumors. PMID: 24418192
  32. 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
  33. 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
  34. No evidence for the association of FOXP2 and CNTNAP2 genes with language traits was observed in this analysis. PMID: 23277129
  35. CNTNAP2 expression is downregulated by STOX1A in the hippocampus of Alzheimer's disease patients. PMID: 22728895
  36. 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
  37. CASPR2 immunoglobulin G (IgG) seropositivity was associated with peripheral motor excitability. PMID: 23407760
  38. 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
  39. We investigated the association between the SNPs rs2107856 and rs2141388 and PEX in Polish population. PMID: 22429864
  40. Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints. PMID: 22948383
  41. 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
  42. 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
  43. The variants, rs1404699 and rs7803992, of CNTNAP2 are associated with exfoliation syndrome in the Japanese population. PMID: 22690117
  44. 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
  45. 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
  46. The mutational testing found heterozygous splice-site, frameshift mutation and stop mutations in CNTNAP2 in four patients. PMID: 21827697
  47. 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
  48. 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
  49. 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
  50. Caspr2 is an autoantigen of encephalitis and peripheral nerve hyperexcitability previously attributed to voltage-gated potassium channels antibodies. PMID: 21387375

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Involvement in disease
Autism 15 (AUTS15); Pitt-Hopkins-like syndrome 1 (PTHSL1)
Subcellular Location
Membrane; Single-pass type I membrane protein. Cell projection, axon. Cell junction, paranodal septate junction.
Protein Families
Neurexin family
Tissue Specificity
Predominantly expressed in nervous system.
Database Links

HGNC: 13830

OMIM: 604569

KEGG: hsa:26047

STRING: 9606.ENSP00000354778

UniGene: Hs.655684

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