Free for academic non-profit institutions. Other users need a Commercial license
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 (Contactin Associated Protein Like 2) is a Protein Coding gene. Diseases associated with CNTNAP2 include Pitt-Hopkins-Like Syndrome 1 and Autism 15. Among its related pathways are Neuroscience and Cell adhesion molecules (CAMs). Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is CNTNAP5.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J146115 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 750.6 | +0.8 | 798 | 2.4 | ZBTB40 CTBP1 DACH1 SP1 ZNF384 EGR1 ZNF704 GLIS2 REST ZNF639 | CNTNAP2 piR-32314-021 | |
GH07J146146 | Enhancer | 0.4 | Ensembl | 11.3 | +31.0 | 30999 | 1.2 | FOXA2 JUND SOX5 | CNTNAP2 piR-55194-376 piR-32314-021 | |
GH07J146150 | Enhancer | 0.2 | FANTOM5 | 19.7 | +34.3 | 34303 | 0.6 | CNTNAP2 piR-55194-376 piR-32314-021 | ||
GH07J146357 | Enhancer | 0.2 | FANTOM5 | 17.1 | +241.5 | 241496 | 0.5 | CNTNAP2 AC007027 ENSG00000274118 lnc-TPK1-4 | ||
GH07J146235 | Enhancer | 0.3 | FANTOM5 | 8 | +119.8 | 119752 | 0.4 | POLR2A | HSALNG0062049 CNTNAP2 ENSG00000274127 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0019899 | enzyme binding | IPI | 19166515 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005769 | early endosome | IDA | 19706678 |
GO:0005794 | Golgi apparatus | IDA | 19166515 |
GO:0008076 | voltage-gated potassium channel complex | NAS | 10624965 |
GO:0009986 | cell surface | IDA | 19706678 |
GO:0016020 | membrane | IDA | 10624965 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neuroscience | ||
2 | Cell adhesion molecules (CAMs) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA | -- |
GO:0007420 | brain development | TAS | 10624965 |
GO:0007612 | learning | IMP | 18179893 |
GO:0008038 | neuron recognition | NAS | 10624965 |
GO:0019226 | transmission of nerve impulse | NAS | 11352571 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CNTNAP2 32 |
|
||
dog (Canis familiaris) |
Mammalia | CNTNAP2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CNTNAP2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Cntnap2 32 |
|
||
mouse (Mus musculus) |
Mammalia | Cntnap2 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | CNTNAP2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CNTNAP2 32 |
|
||
tropical clawed frog (Silurana tropicalis) |
Amphibia | cntnap2 32 |
|
||
Str.12894 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | cntnap2a 32 |
|
||
CNTNAP2 33 |
|
OneToMany | |||
Dr.16289 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Nrx-IV 32 |
|
||
Nrx 34 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007545 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1015511874 | uncertain-significance, Pitt-Hopkins-like syndrome 1 | 147,121,085(+) | C/G | coding_sequence_variant, missense_variant | |
rs10240482 | benign, likely-benign, not specified, Pitt-Hopkins-like syndrome 1, Pitt-Hopkins-like syndrome, not provided | 147,977,856(+) | A/G/T | genic_downstream_transcript_variant, intron_variant | |
rs10240503 | benign, not specified, Pitt-Hopkins-like syndrome 1, Pitt-Hopkins-like syndrome, History of neurodevelopmental disorder | 147,977,886(+) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
rs10243309 | benign, Pitt-Hopkins-like syndrome 1, Pitt-Hopkins-like syndrome | 148,418,537(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs10251347 | benign, Pitt-Hopkins-like syndrome, Pitt-Hopkins-like syndrome 1 | 148,420,354(+) | C/G | 3_prime_UTR_variant, genic_downstream_transcript_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
pitt-hopkins-like syndrome 1 |
|
|
autism 15 |
|
|
pitt-hopkins-like syndrome |
|
|
pitt-hopkins syndrome |
|
|
gilles de la tourette syndrome |
|