| Tbio | Contactin-2 |
In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.
This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]
This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6685 | 2.39447337534648E-79 |
| atypical teratoid/rhabdoid tumor | 1095 | 5.78761144630944E-8 |
| oligodendroglioma | 2849 | 2.52256369658711E-6 |
| group 4 medulloblastoma | 1875 | 4.03943745333793E-6 |
| pituitary cancer | 1972 | 1.15853101858362E-5 |
| ependymoma | 2514 | 1.23633988104088E-5 |
| pediatric high grade glioma | 2712 | 1.41223941653212E-4 |
| pilocytic astrocytoma | 3086 | 4.33766719421951E-4 |
| glioblastoma | 5572 | 7.75369468872513E-4 |
| subependymal giant cell astrocytoma | 2287 | 0.00116717811879669 |
| astrocytic glioma | 2241 | 0.0458134270784274 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cancer | 2346 | 3.624 | 1.8 |
| Demyelinating polyneuropathy | 7 | 3.607 | 1.8 |
| Encephalitis | 54 | 3.263 | 1.6 |
| Tropical spastic paraparesis | 17 | 3.192 | 1.6 |
| Spinal cord disease | 22 | 3.009 | 1.5 |
| Disease | Target Count |
|---|---|
| Benign adult familial myoclonic epilepsy | 2 |
| Epilepsy, familial adult myoclonic, 5 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | -2.400 | 0.046 |
| glioblastoma | -1.900 | 0.001 |
| oligodendroglioma | -1.700 | 0.000 |
| ependymoma | -2.600 | 0.000 |
| group 4 medulloblastoma | -3.900 | 0.000 |
| atypical teratoid/rhabdoid tumor | -3.900 | 0.000 |
| pediatric high grade glioma | -2.500 | 0.000 |
| pilocytic astrocytoma | -2.000 | 0.000 |
| subependymal giant cell astrocytoma | -4.597 | 0.001 |
| pituitary cancer | -1.700 | 0.000 |
| psoriasis | -1.800 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Chicken | OMA Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG |
| PMID | Text |
|---|---|
| 26718491 | RACK1 interacts with CNTN2, and the effects of RACK1 on glioma cell growth and differentiation are mediated by CNTN2. |
| 24405708 | Our results clearly demonstrate that mouse and human contactin-2 are physiological substrates for BACE1 |
| 23518707 | A single nucleotide deletion in exon 6 of CNTN2 results in a frameshift mutation, segregating in a recessive manner in a consanguineous Egyptian family with epilepsy. |
| 22462668 | The single-nucleotide polymorphism (SNP) rs2275697 in the TAG-) gene was not associated with treatment responsiveness, treatment dependence, disability, or mortality in chronic inflammatory demyelinating polyneuropathy |
| 22003931 | allelic variation in TAG-1 does not play a major role in determining multifocal motor neuropathy susceptibility. |
| 21696500 | single nucleotide polymorphisms in TAG-1 are related to the IVIg responsiveness of Chronic inflammatory demyelinating polyneuropathy patients. |
| 19776380 | Observational study of gene-disease association. (HuGE Navigator) |
| 19451620 | immune response to CNTN2 and possible involvement in multiple sclerosis and EAE [REVIEW] |
| 19416878 | Contactin-2 is expressed by various neuronal populations and sequestered in the juxtaparanodal domain of myelinated axons both at the axonal and myelin sides; is an autoantigen targeted by T cells and autoantibodies in MS. |
| 19086053 | Observational study of gene-disease association. (HuGE Navigator) |
| More... |
MGTATRRKPHLLLVAAVALVSSSAWSSALGSQTTFGPVFEDQPLSVLFPEESTEEQVLLACRARASPPAT 1 - 70 YRWKMNGTEMKLEPGSRHQLVGGNLVIMNPTKAQDAGVYQCLASNPVGTVVSREAILRFGFLQEFSKEER 71 - 140 DPVKAHEGWGVMLPCNPPAHYPGLSYRWLLNEFPNFIPTDGRHFVSQTTGNLYIARTNASDLGNYSCLAT 141 - 210 SHMDFSTKSVFSKFAQLNLAAEDTRLFAPSIKARFPAETYALVGQQVTLECFAFGNPVPRIKWRKVDGSL 211 - 280 SPQWTTAEPTLQIPSVSFEDEGTYECEAENSKGRDTVQGRIIVQAQPEWLKVISDTEADIGSNLRWGCAA 281 - 350 AGKPRPTVRWLRNGEPLASQNRVEVLAGDLRFSKLSLEDSGMYQCVAENKHGTIYASAELAVQALAPDFR 351 - 420 LNPVRRLIPAARGGEILIPCQPRAAPKAVVLWSKGTEILVNSSRVTVTPDGTLIIRNISRSDEGKYTCFA 421 - 490 ENFMGKANSTGILSVRDATKITLAPSSADINLGDNLTLQCHASHDPTMDLTFTWTLDDFPIDFDKPGGHY 491 - 560 RRTNVKETIGDLTILNAQLRHGGKYTCMAQTVVDSASKEATVLVRGPPGPPGGVVVRDIGDTTIQLSWSR 561 - 630 GFDNHSPIAKYTLQARTPPAGKWKQVRTNPANIEGNAETAQVLGLTPWMDYEFRVIASNILGTGEPSGPS 631 - 700 SKIRTREAAPSVAPSGLSGGGGAPGELIVNWTPMSREYQNGDGFGYLLSFRRQGSTHWQTARVPGADAQY 701 - 770 FVYSNESVRPYTPFEVKIRSYNRRGDGPESLTALVYSAEEEPRVAPTKVWAKGVSSSEMNVTWEPVQQDM 771 - 840 NGILLGYEIRYWKAGDKEAAADRVRTAGLDTSARVSGLHPNTKYHVTVRAYNRAGTGPASPSANATTMKP 841 - 910 PPRRPPGNISWTFSSSSLSIKWDPVVPFRNESAVTGYKMLYQNDLHLTPTLHLTGKNWIEIPVPEDIGHA 911 - 980 LVQIRTTGPGGDGIPAEVHIVRNGGTSMMVENMAVRPAPHPGTVISHSVAMLILIGSLEL 981 - 1040 //
| PMID | Year | Title |
|---|---|---|
| 27621318 | 2016 | Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2). |
| 26718491 | 2016 | RACK1 affects glioma cell growth and differentiation through the CNTN2-mediated RTK/Ras/MAPK pathway. |
| 24405708 | 2014 | BACE1 activity regulates cell surface contactin-2 levels. |
| 24026423 | 2014 | A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. |
| 23518707 | 2013 | Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. |
| 22462668 | 2012 | Single-nucleotide polymorphism of transient axonal glycoprotein-1 and its correlation with clinical features and prognosis in chronic inflammatory demyelinating polyneuropathy. |
| 22003931 | 2011 | Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes. |
| 21696500 | 2011 | Polymorphism of transient axonal glycoprotein-1 in chronic inflammatory demyelinating polyneuropathy. |
| 19776380 | 2009 | Single nucleotide polymorphism of TAG-1 influences IVIg responsiveness of Japanese patients with CIDP. |
| 19451620 | 2009 | The gray aspects of white matter disease in multiple sclerosis. |
| More... |
