======= CNTNAP2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CNTNAP2
  * **<color #00a2e8>Official Name</color>**: contactin associated protein 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=26047|26047]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UHC6|Q9UHC6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CNTNAP2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CNTNAP2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604569|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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 (FOXP2), 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 mental retardation.[provided by RefSeq, Mar 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction. {ECO:0000250|UniProtKB:Q9CPW0}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Laminin G 1|
|F5 F8 type C|
|Laminin G 2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|superior temporal gyrus development|
|clustering of voltage-gated potassium channels|
|protein localization to juxtaparanode region of axon|
|imitative learning|
|vocal learning|
|paranodal junction|
|observational learning|
|protein localization to axon|
|juxtaparanode region of axon|
|learned vocalization behavior or vocal learning|
|neuronal ion channel clustering|
|thalamus development|
|auditory behavior|
|axolemma|
|mechanosensory behavior|
|striatum development|
|vocalization behavior|
|subpallium development|
|response to auditory stimulus|
|neuron maturation|
|neuron recognition|
|social behavior|
|intraspecies interaction between organisms|
|transmission of nerve impulse|
|multi-organism behavior|
|diencephalon development|
|voltage-gated potassium channel complex|
|limbic system development|
|cerebral cortex development|
|perikaryon|
|anatomical structure maturation|
|multicellular organismal signaling|
|adult behavior|
|learning|
|cell maturation|
|pallium development|
|response to mechanical stimulus|
|cell recognition|
|developmental maturation|
|early endosome|
|telencephalon development|
|learning or memory|
|axon|
|cognition|
|enzyme binding|
|neuronal cell body|
|forebrain development|
|dendrite|
|neuron projection morphogenesis|
|plasma membrane bounded cell projection morphogenesis|
|cell projection morphogenesis|
|cell part morphogenesis|
|behavior|
|cell surface|
|neuron projection development|
|cell morphogenesis|
|brain development|
|head development|
|neuron development|
|cellular component morphogenesis|
|membrane organization|
|cell adhesion|
|biological adhesion|
|central nervous system development|
|Golgi apparatus|
|neuron differentiation|
|plasma membrane bounded cell projection organization|
|response to abiotic stimulus|
|cell projection organization|
|nervous system process|
|generation of neurons|
|cellular protein localization|
|cellular macromolecule localization|
|neurogenesis|
|cell development|
|system process|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp300|VE-822 0.04μM R06 exp300]]|-1.78|
|[[:results:exp525|Sulforaphane 9μM R08 exp525]]|1.73|
|[[:results:exp156|UNC2400 2μM R03 exp156]]|1.73|
|[[:results:exp318|ABT-702 5μM R07 exp318]]|1.76|
|[[:results:exp400|Senexin-A 25μM R07 exp400]]|1.78|
|[[:results:exp340|BN82002 4μM R07 exp340]]|1.88|
|[[:results:exp16|DABN 2μM R00 exp16]]|2.21|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.428|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 5970
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.21 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CNTNAP2 Expression in NALM6 Cells: 1.21'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>