CNTN2 - contactin 2 Gene
Also Known as AXT; TAX; TAX1; FAME5; TAG-1
Species: Homo sapiens
About CNTN2
This gene has 33 transcripts (splice variants), 222 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 36.2) and testis (RPKM 4.9).
Summary
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]
CNTN2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001346083.2 | NP_001333012.1 | contactin-2 precursor |
| NM_005076.5 | NP_005067.1 | contactin-2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in presynaptic membrane organization |
IMP
IMP: Inferred from mutant phenotype
|
23518707 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in postsynaptic membrane |
IDA
IDA: Inferred from direct assay
|
26217189 | GOA |
| is active in postsynaptic membrane |
IMP
IMP: Inferred from mutant phenotype
|
26217189 | GOA |
CNTN2 Protein Structure
Ig_2: Immunoglobulin domain (52 - 126)
Ig_3: Immunoglobulin domain (147 - 211)
I-set: Immunoglobulin I-set domain (247 - 318)
I-set: Immunoglobulin I-set domain (330 - 412)
I-set: Immunoglobulin I-set domain (431 - 505)
I-set: Immunoglobulin I-set domain (510 - 604)
fn3: Fibronectin type III domain (610 - 697)
fn3: Fibronectin type III domain (713 - 800)
fn3: Fibronectin type III domain (815 - 900)
- 0
- 200
- 400
- 600
- 800
- 1040 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
contactin-2 |
|
Recombinant CNTN2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70054 | Contactin-2/CNTN2 Protein, Human (HEK293, His) | Q02246 (S31-N1012) | ≥ 95%, as determined by reducing SDS-PAGE. |
CNTN2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82230 | CNTN2 Antibody (YA1975) | WB, ICC/IF, FC | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Epilepsy, Familial Adult Myoclonic, 5 |
|
|
| Familial Adult Myoclonic Epilepsy |
|
|
| Tropical Spastic Paraparesis |
|
|
| Glioblastoma |
|
|
| Myelopathy, Htlv-1-Associated |
|
|
| Adult T-Cell Leukemia/Lymphoma |
|
|
| Mild Cognitive Impairment |
|
|
| Non-Invasive Bladder Papillary Urothelial Neoplasm |
|
|
| Epilepsy |
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
|
| Bladder Papillary Transitional Cell Neoplasm |
|
|
| Urinary Tract Papillary Transitional Cell Benign Neoplasm |
|
|
| Tremor |
|
|
| T-Cell Large Granular Lymphocyte Leukemia |
|
|
| Pitt-Hopkins-Like Syndrome 1 |
|
|
| T-Cell Adult Acute Lymphocytic Leukemia |
|
|
| Radiation Cystitis |
|
|
| Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
|
|
| Papillary Transitional Carcinoma |
|
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| Demyelinating Polyneuropathy |
|
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| Immune Deficiency Disease |
|
|
| Microcephaly |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | CNTN2 | VGNC | VGNC:71284 |
| Bos taurus | CNTN2 | VGNC | VGNC:27537 |
| Mus musculus | CNTN2 | MGD | MGI:104518 |
| Felis catus | CNTN2 | VGNC | VGNC:61037 |
| Rattus norvegicus | CNTN2 | RGD | RGD:3821 |
| Canis familiaris | CNTN2 | VGNC | VGNC:39433 |
| Others | CNTN2 | NCBI |