| 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 | Z-score | Confidence |
|---|---|---|---|
| Epilepsy, familial adult myoclonic, 5 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6694 | 2.4e-79 |
| oligodendroglioma | 2850 | 2.5e-06 |
| ependymoma | 4679 | 4.8e-06 |
| pituitary cancer | 1972 | 1.2e-05 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.7e-05 |
| Astrocytoma, Pilocytic | 3081 | 4.5e-04 |
| glioblastoma | 5792 | 7.8e-04 |
| subependymal giant cell astrocytoma | 2287 | 1.7e-03 |
| group 3 medulloblastoma | 4104 | 2.2e-03 |
| adult high grade glioma | 3801 | 2.9e-03 |
| astrocytic glioma | 2597 | 4.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Demyelinating polyneuropathy | 6 | 3.764 | 1.9 |
| Cancer | 2499 | 3.658 | 1.8 |
| Tropical spastic paraparesis | 15 | 3.408 | 1.7 |
| Encephalitis | 64 | 3.328 | 1.7 |
| Spinal cord disease | 25 | 3.204 | 1.6 |
| Disease | Target Count |
|---|---|
| Benign adult familial myoclonic epilepsy | 2 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -2.500 | 2.9e-03 |
| astrocytic glioma | -2.400 | 4.6e-02 |
| Astrocytoma, Pilocytic | -2.000 | 4.5e-04 |
| atypical teratoid / rhabdoid tumor | -1.100 | 1.7e-05 |
| ependymoma | -1.100 | 4.8e-06 |
| glioblastoma | -1.900 | 7.8e-04 |
| group 3 medulloblastoma | -1.500 | 2.2e-03 |
| oligodendroglioma | -1.700 | 2.5e-06 |
| pituitary cancer | -1.700 | 1.2e-05 |
| psoriasis | -1.800 | 2.4e-79 |
| subependymal giant cell astrocytoma | -1.815 | 1.7e-03 |
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 //
