CNTNAP2 - contactin associated protein 2 Gene
Also Known as CDFE; NRXN4; AUTS15; CASPR2; PTHSL1
Species: Homo sapiens
About CNTNAP2
This gene has 24 transcripts (splice variants), 1 gene allele, 298 orthologues, 35 paralogues and is associated with 114 phenotypes. Biased expression in brain (RPKM 12.9), prostate (RPKM 4.1) and 7 other tissues.
Summary
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like Other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]
CNTNAP2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_014141.6 | NP_054860.1 | contactin-associated protein-like 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
19166515 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
22872700 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in adult behavior |
IMP
IMP: Inferred from mutant phenotype
|
18179893 | GOA |
| involved in cell population proliferation |
IDA
IDA: Inferred from direct assay
|
29028946 | GOA |
| involved in cerebral cortex development |
IEP
IEP: Inferred from expression pattern
|
18179893 | GOA |
| involved in learning |
IMP
IMP: Inferred from mutant phenotype
|
18179893 | GOA |
| involved in limbic system development |
IEP
IEP: Inferred from expression pattern
|
18179895 | GOA |
| involved in positive regulation of gap junction assembly |
IMP
IMP: Inferred from mutant phenotype
|
33238150 | GOA |
| involved in social behavior |
IMP
IMP: Inferred from mutant phenotype
|
18179893 | GOA |
| involved in striatum development |
IEP
IEP: Inferred from expression pattern
|
18179893 | GOA |
| involved in superior temporal gyrus development |
IEP
IEP: Inferred from expression pattern
|
18179893 | GOA |
| involved in thalamus development |
IEP
IEP: Inferred from expression pattern
|
18179893 | GOA |
| involved in vocal learning |
IMP
IMP: Inferred from mutant phenotype
|
19896112 | GOA |
| involved in vocalization behavior |
IMP
IMP: Inferred from mutant phenotype
|
18179893 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
19166515 | GOA |
| located in axolemma |
IDA
IDA: Inferred from direct assay
|
19706678 | GOA |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
19706678 | GOA |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
19706678 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
10624965 | GOA |
| part of voltage-gated potassium channel complex |
IDA
IDA: Inferred from direct assay
|
10624965 | GOA |
CNTNAP2 Protein Structure
F5_F8_type_C: F5/8 type C domain (49 - 178)
Laminin_G_2: Laminin G domain (216 - 344)
Laminin_G_2: Laminin G domain (401 - 529)
EGF: EGF-like domain (558 - 588)
Laminin_G_2: Laminin G domain (827 - 944)
Laminin_G_2: Laminin G domain (1055 - 1186)
- 0
- 300
- 600
- 900
- 1200
- 1331 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
contactin-associated protein-like 2 |
|
CNTNAP2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CNTNAP2 | Q9UHC6 | POLR2G | Homo sapiens | P62487 | 32296183 | |
|
Intra
|
CNTNAP2 | Q9UHC6 | POLR2G | Homo sapiens | P62487 | 32296183 | |
|
Intra
|
CNTNAP2 | Q9UHC6 | CNTN1 | Homo sapiens | Q12860 | 26721881 | |
|
Intra
|
CNTNAP2 | Q9UHC6 | CNTN1 | Homo sapiens | Q12860 | 26721881 | |
|
Intra
|
CNTNAP2 | Q9UHC6 | GORASP2 | Homo sapiens | Q9H8Y8 | 32296183 | |
|
Intra
|
CNTNAP2 | Q9UHC6 | GORASP2 | Homo sapiens | Q9H8Y8 | 32296183 | |
|
Intra
|
CNTNAP2 | Q9UHC6 | MEOX2 | Homo sapiens | P50222 | 25416956 |
CNTNAP2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83225 | Caspr2 Antibody (YA2970) | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Pitt-Hopkins-Like Syndrome 1 |
|
|
| Autism 15 |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Gilles De La Tourette Syndrome |
|
|
| Autism |
|
|
| Pitt-Hopkins Syndrome |
|
|
| Mutism |
|
|
| Autism Spectrum Disorder |
|
|
| Pitt-Hopkins-Like Syndrome |
|
|
| Specific Language Impairment |
|
|
| Pervasive Developmental Disorder |
|
|
| Autoimmune Epilepsy |
|
|
| Speech And Communication Disorders |
|
|
| La Crosse Encephalitis |
|
|
| Stuttering |
|
|
| Echolalia |
|
|
| Postinfectious Encephalitis |
|
|
| Exfoliation Syndrome |
|
|
| Acute Disseminated Encephalomyelitis |
|
|
| Tic Disorder |
|
|
| Lingual-Facial-Buccal Dyskinesia |
|
|
| Reading Disorder |
|
|
| Childhood Disintegrative Disease |
|
|
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
|
| Obsessive-Compulsive Disorder |
|
|
| Encephalitis |
|
|
| Epilepsy |
|
|
| Limbic Encephalitis |
|
|
| Speech Disorder |
|
|
| Autoimmune Disease Of Peripheral Nervous System |
|
|
| Schizophrenia |
|
|
| Stiff-Person Syndrome |
|
|
| Chorea Gravidarum |
|
|
| Transverse Myelitis |
|
|
| Transient Tic Disorder |
|
|
| Anterograde Amnesia |
|
|
| Von Economo'S Disease |
|
|
| Amnestic Disorder |
|
|
| Thymus Gland Disease |
|
|
| Miller Fisher Syndrome |
|
|
| Articulation Disorder |
|
|
| Autoimmune Neuropathy |
|
|
| Chronic Tic Disorder |
|
|
| Thymus Cancer |
|
|
| Viral Encephalitis |
|
|
| Developmental Coordination Disorder |
|
|
| Dissociative Amnesia |
|
|
| Pitt-Hopkins-Like Syndrome 2 |
|
|
| Auditory Agnosia |
|
|
| Polyradiculopathy |
|
|
| Learning Disability |
|
|
| Drug Psychosis |
|
|
| Drug-Induced Mental Disorder |
|
|
| Phelan-Mcdermid Syndrome |
|
|
| Choreatic Disease |
|
|
| Partial Motor Epilepsy |
|
|
| Specific Developmental Disorder |
|
|
| Hereditary Spastic Paraplegia 51 |
|
|
| Epilepsy, Familial Temporal Lobe, 1 |
|
|
| Expressive Language Disorder |
|
|
| Episodic Ataxia |
|
|
| Thymic Carcinoma |
|
|
| Demyelinating Polyneuropathy |
|
|
| Transient Global Amnesia |
|
|
| Bipolar Disorder |
|
|
| Focal Epilepsy |
|
|
| Meier-Gorlin Syndrome 2 |
|
|
| Epilepsy, Idiopathic Generalized 9 |
|
|
| Hyperekplexia |
|
|
| Gummatous Syphilis |
|
|
| Gallbladder Small Cell Carcinoma |
|
|
| Scoliosis |
|
|
| Dyslexia |
|
|
| Meningovascular Neurosyphilis |
|
|
| Episodic Ataxia, Type 8 |
|
|
| Autoimmune Disease Of Central Nervous System |
|
|
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
|
| Psychotic Disorder |
|
|
| Optic Nerve Disease |
|
|
| Distal Arthrogryposis |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Movement Disease |
|
|
| Cerebellar Disease |
|
|
| Velocardiofacial Syndrome |
|
|
| Dravet Syndrome |
|
|
| Childhood Absence Epilepsy |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| West Syndrome |
|
|
| Peripheral Nervous System Disease |
|
|
| Congenital Nervous System Abnormality |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | CNTNAP2 | VGNC | VGNC:71174 |
| Mus musculus | CNTNAP2 | MGD | MGI:1914047 |
| Rattus norvegicus | CNTNAP2 | RGD | RGD:1307076 |
| Felis catus | CNTNAP2 | VGNC | VGNC:102028 |
| Others | CNTNAP2 | NCBI |