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Aliases for CNTNAP2 Gene

Aliases for CNTNAP2 Gene

  • Contactin Associated Protein-Like 2 2 3
  • CASPR2 3 4 6
  • Cell Recognition Molecule Caspr2 3 4
  • AUTS15 3 6
  • PTHSL1 3 6
  • NRXN4 3 6
  • CDFE 3 6
  • Contactin-Associated Protein-Like 2 3
  • Homolog Of Drosophila Neurexin IV 3
  • KIAA0868 4

External Ids for CNTNAP2 Gene

Summaries for CNTNAP2 Gene

Entrez Gene Summary for CNTNAP2 Gene

  • 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]

GeneCards Summary for CNTNAP2 Gene

CNTNAP2 (Contactin Associated Protein-Like 2) is a Protein Coding gene. Diseases associated with CNTNAP2 include cortical dysplasia-focal epilepsy syndrome and autism susceptibility 15. Among its related pathways are Neuroscience and Cell adhesion molecules (CAMs). GO annotations related to this gene include enzyme binding. An important paralog of this gene is CNTNAP1.

UniProtKB/Swiss-Prot for CNTNAP2 Gene

  • May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction (By similarity).

Gene Wiki entry for CNTNAP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTNAP2 Gene

Genomics for CNTNAP2 Gene

Genomic Location for CNTNAP2 Gene

Start:
146,116,361 bp from pter
End:
148,420,998 bp from pter
Size:
2,304,638 bases
Orientation:
Plus strand

Genomic View for CNTNAP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNTNAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTNAP2 Gene

Regulatory Elements for CNTNAP2 Gene

Proteins for CNTNAP2 Gene

  • Protein details for CNTNAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHC6-CNTP2_HUMAN
    Recommended name:
    Contactin-associated protein-like 2
    Protein Accession:
    Q9UHC6
    Secondary Accessions:
    • D3DWG2
    • Q14DG2
    • Q52LV1
    • Q5H9Q7
    • Q9UQ12

    Protein attributes for CNTNAP2 Gene

    Size:
    1331 amino acids
    Molecular mass:
    148167 Da
    Quaternary structure:
    • Interacts (via C-terminus) with KCNA2.
    SequenceCaution:
    • Sequence=BAA74891.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CNTNAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTNAP2 Gene

Proteomics data for CNTNAP2 Gene at MOPED

Post-translational modifications for CNTNAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn289, Asn346, Asn363, Asn379, Asn436, Asn506, Asn507, Asn546, Asn630, Asn735, Asn1116, and Asn1198

Other Protein References for CNTNAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNTNAP2 Gene

Domains for CNTNAP2 Gene

UniProtKB/Swiss-Prot:

CNTP2_HUMAN
Domain:
  • Contains 2 EGF-like domains.:
    • Q9UHC6
  • Contains 1 F5/8 type C domain.:
    • Q9UHC6
  • Contains 1 fibrinogen C-terminal domain.:
    • Q9UHC6
  • Contains 4 laminin G-like domains.:
    • Q9UHC6
Family:
  • Belongs to the neurexin family.:
    • Q9UHC6
genes like me logo Genes that share domains with CNTNAP2: view

No data available for Gene Families for CNTNAP2 Gene

Function for CNTNAP2 Gene

Molecular function for CNTNAP2 Gene

UniProtKB/Swiss-Prot Function: May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction (By similarity).

Gene Ontology (GO) - Molecular Function for CNTNAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019899 enzyme binding IPI 19166515
genes like me logo Genes that share ontologies with CNTNAP2: view
genes like me logo Genes that share phenotypes with CNTNAP2: view

Animal Models for CNTNAP2 Gene

MGI Knock Outs for CNTNAP2:

miRNA for CNTNAP2 Gene

miRTarBase miRNAs that target CNTNAP2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CNTNAP2 Gene

Localization for CNTNAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTNAP2 Gene

Membrane; Single-pass type I membrane protein. Cell projection, axon.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTNAP2 Gene COMPARTMENTS Subcellular localization image for CNTNAP2 gene
Compartment Confidence
endosome 4
golgi apparatus 4
plasma membrane 4
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CNTNAP2 Gene

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 IDA 10624965
GO:0009986 cell surface IDA 19706678
GO:0016020 membrane IDA 10624965
genes like me logo Genes that share ontologies with CNTNAP2: view

Pathways for CNTNAP2 Gene

genes like me logo Genes that share pathways with CNTNAP2: view

Pathways by source for CNTNAP2 Gene

1 Cell Signaling Technology pathway for CNTNAP2 Gene
1 KEGG pathway for CNTNAP2 Gene

Gene Ontology (GO) - Biological Process for CNTNAP2 Gene

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
genes like me logo Genes that share ontologies with CNTNAP2: view

Compounds for CNTNAP2 Gene

(1) Novoseek inferred chemical compound relationships for CNTNAP2 Gene

Compound -log(P) Hits PubMed IDs
potassium 35.1 4
genes like me logo Genes that share compounds with CNTNAP2: view

Transcripts for CNTNAP2 Gene

mRNA/cDNA for CNTNAP2 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CNTNAP2 Gene

Contactin associated protein-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNTNAP2 Gene

No ASD Table

Relevant External Links for CNTNAP2 Gene

GeneLoc Exon Structure for
CNTNAP2
ECgene alternative splicing isoforms for
CNTNAP2

Expression for CNTNAP2 Gene

mRNA expression in normal human tissues for CNTNAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNTNAP2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (8.1), Brain - Cortex (5.8), Brain - Anterior cingulate cortex (BA24) (5.7), Brain - Spinal cord (cervical c-1) (5.3), and Brain - Amygdala (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CNTNAP2 Gene

SOURCE GeneReport for Unigene cluster for CNTNAP2 Gene Hs.655684

mRNA Expression by UniProt/SwissProt for CNTNAP2 Gene

Q9UHC6-CNTP2_HUMAN
Tissue specificity: Predominantly expressed in nervous system.
genes like me logo Genes that share expressions with CNTNAP2: view

Orthologs for CNTNAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNTNAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNTNAP2 36
  • 99.17 (n)
  • 99.55 (a)
cow
(Bos Taurus)
Mammalia CNTNAP2 36
  • 89.21 (n)
  • 94.67 (a)
CNTNAP2 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNTNAP2 36
  • 90.23 (n)
  • 95.19 (a)
CNTNAP2 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntnap2 36
  • 87.78 (n)
  • 93.76 (a)
Cntnap2 16
Cntnap2 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTNAP2 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntnap2 36
  • 88.11 (n)
  • 94.5 (a)
chicken
(Gallus gallus)
Aves CNTNAP2 36
  • 76.69 (n)
  • 82.77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cntnap2 36
  • 72.44 (n)
  • 77.94 (a)
Str.12894 36
zebrafish
(Danio rerio)
Actinopterygii CNTNAP2 37
  • 64 (a)
OneToMany
cntnap2a 36
  • 69.72 (n)
  • 71.83 (a)
Dr.16289 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007545 36
  • 46 (n)
  • 35.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nrx-IV 36
  • 46.98 (n)
  • 36.09 (a)
Nrx 38
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 32 (a)
OneToOne
Species with no ortholog for CNTNAP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CNTNAP2 Gene

ENSEMBL:
Gene Tree for CNTNAP2 (if available)
TreeFam:
Gene Tree for CNTNAP2 (if available)

Paralogs for CNTNAP2 Gene

Paralogs for CNTNAP2 Gene

genes like me logo Genes that share paralogs with CNTNAP2: view

Variants for CNTNAP2 Gene

Sequence variations from dbSNP and Humsavar for CNTNAP2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs3194 -- 148,417,173(-) AAACC(G/T)CCTCT utr-variant-3-prime
rs16654 -- 146,395,971(+) GGAGA(A/T)TATCA intron-variant
rs37045 -- 146,712,279(-) catat(A/T)tgtat intron-variant
rs37046 -- 146,712,198(-) CATAT(A/T)TGTAT intron-variant
rs37047 -- 146,712,156(-) aagat(A/G)tgtat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNTNAP2 Gene

Variant ID Type Subtype PubMed ID
nsv889384 CNV Gain 21882294
nsv889386 CNV Loss 21882294
nsv889387 CNV Gain 21882294
nsv5992 CNV Loss 18451855
esv6241 CNV Gain 19470904
nsv5993 CNV Loss 18451855
nsv889388 CNV Loss 21882294
nsv524528 CNV Loss 19592680
nsv889389 CNV Loss 21882294
esv1388043 CNV Insertion 17803354
nsv889390 CNV Loss 21882294
esv2665985 CNV Deletion 23128226
nsv5994 CNV Loss 18451855
esv2522287 CNV Deletion 19546169
esv2028241 CNV Deletion 18987734
esv2491993 CNV Loss 19546169
esv21898 CNV Loss 19812545
esv2665938 CNV Deletion 23128226
nsv514456 CNV Loss 21397061
esv2421508 CNV Deletion 20811451
nsv442075 CNV CNV 18776908
nsv889391 CNV Loss 21882294
nsv465186 CNV Gain 19166990
esv2670530 CNV Deletion 23128226
esv2735298 CNV Deletion 23290073
nsv515777 CNV Gain+Loss 19592680
dgv843n27 CNV Gain 19166990
esv1148307 CNV Insertion 17803354
esv1314998 CNV Insertion 17803354
esv2656543 CNV Deletion 23128226
esv2663251 CNV Deletion 23128226
nsv889392 CNV Loss 21882294
esv2735299 CNV Deletion 23290073
esv2677971 CNV Deletion 23128226
nsv526330 CNV Loss 19592680
nsv889393 CNV Loss 21882294
nsv889394 CNV Loss 21882294
nsv824368 CNV Gain 20364138
esv27243 CNV Gain 19812545
esv270701 CNV Insertion 20981092
nsv470397 CNV Loss 18288195
esv271866 CNV Insertion 20981092
esv271881 CNV Insertion 20981092
nsv525283 CNV Loss 19592680
esv2735300 CNV Deletion 23290073
esv1669432 CNV Insertion 17803354
nsv5995 CNV Insertion 18451855
nsv522917 CNV Loss 19592680
esv2735301 CNV Deletion 23290073
nsv521212 CNV Loss 19592680
nsv818568 CNV Loss 17921354
nsv517352 CNV Loss 19592680
nsv818569 CNV Loss 17921354
esv2524864 CNV Deletion 19546169
nsv507426 CNV Insertion 20534489
nsv523284 CNV Loss 19592680
nsv519590 CNV Gain 19592680
nsv522426 CNV Gain 19592680
esv2735302 CNV Deletion 23290073
esv2735303 CNV Deletion 23290073
esv1726659 CNV Insertion 17803354
nsv889395 CNV Loss 21882294
nsv889396 CNV Gain 21882294
nsv521548 CNV Loss 19592680
esv2735304 CNV Deletion 23290073
esv2735305 CNV Deletion 23290073
esv2667437 CNV Deletion 23128226
nsv5996 CNV Loss 18451855
esv33975 CNV Loss 17666407
esv999216 CNV Gain 20482838
nsv526693 CNV Gain 19592680
dgv177e180 CNV Loss 20482838
dgv1246e199 CNV Deletion 23128226
esv26187 CNV Loss 19812545
dgv1142n67 CNV Loss 20364138
esv1003793 CNV Gain 20482838
esv2735307 CNV Deletion 23290073
esv2735308 CNV Deletion 23290073
nsv5997 CNV Insertion 18451855
esv270321 CNV Insertion 20981092
esv273229 CNV Insertion 20981092
esv2735309 CNV Deletion 23290073
nsv517892 CNV Gain 19592680
esv22733 CNV Loss 19812545
esv22430 CNV Loss 19812545
nsv824372 CNV Loss 20364138
esv272196 CNV Insertion 20981092
esv270385 CNV Insertion 20981092
esv22075 CNV Gain 19812545
esv2735310 CNV Deletion 23290073
esv2735311 CNV Deletion 23290073
nsv365559 CNV Loss 16902084
esv2735312 CNV Deletion 23290073
nsv507427 CNV Insertion 20534489
dgv434n21 CNV Loss 19592680
esv2658548 CNV Deletion 23128226
esv2735313 CNV Deletion 23290073
nsv824373 CNV Loss 20364138
esv275461 CNV Loss 21479260
nsv510119 CNV Loss 20534489
nsv889397 CNV Loss 21882294
nsv366964 CNV Loss 16902084
nsv365313 CNV Loss 16902084
nsv465193 CNV Loss 19166990
esv2614694 CNV Deletion 19546169
esv2735314 CNV Deletion 23290073
nsv889398 CNV Loss 21882294
esv270463 CNV Insertion 20981092
esv272410 CNV Insertion 20981092
dgv7528n71 CNV Loss 21882294
nsv523350 CNV Loss 19592680
esv268420 CNV Insertion 20981092
esv1335099 CNV Insertion 17803354
esv2558199 CNV Deletion 19546169
esv2670699 CNV Deletion 23128226
nsv366532 CNV Loss 16902084
nsv428189 CNV Loss 18775914
nsv509223 CNV Insertion 20534489
nsv366677 CNV Loss 16902084
nsv5998 CNV Insertion 18451855
esv2313395 CNV Deletion 18987734
esv2735315 CNV Deletion 23290073
esv2735316 CNV Deletion 23290073
esv2735318 CNV Deletion 23290073
esv2735319 CNV Deletion 23290073
esv6780 CNV Loss 19470904
esv1524405 CNV Insertion 17803354
esv1283707 CNV Insertion 17803354
nsv6000 CNV Loss 18451855
nsv819325 CNV Loss 19587683
esv2735320 CNV Deletion 23290073
esv1417163 CNV Deletion 17803354
esv2735321 CNV Deletion 23290073
nsv511371 CNV Loss 21212237
nsv436545 CNV Deletion 17901297
esv993123 CNV Deletion 20482838
nsv511997 CNV Loss 21212237
esv4983 CNV Deletion 18987735
esv2735322 CNV Deletion 23290073
esv2662776 CNV Deletion 23128226
nsv499446 CNV Loss 21111241
nsv366797 CNV Loss 16902084
esv991390 CNV Deletion 20482838
esv7713 CNV Loss 19470904
dgv1143n67 CNV Loss 20364138
nsv820722 CNV Deletion 20802225
nsv819835 CNV Gain 19587683
esv26161 CNV Gain 19812545
dgv1144n67 CNV Loss 20364138
nsv514457 CNV Loss 21397061
esv32966 CNV Loss 17666407
nsv824383 CNV Loss 20364138
dgv1145n67 CNV Loss 20364138
dgv1247e199 CNV Deletion 23128226
esv2441804 CNV Deletion 19546169
esv2735323 CNV Deletion 23290073
esv1309761 CNV Deletion 17803354
esv2735324 CNV Deletion 23290073
esv1961157 CNV Deletion 18987734

Relevant External Links for CNTNAP2 Gene

HapMap Linkage Disequilibrium report
CNTNAP2
Human Gene Mutation Database (HGMD)
CNTNAP2
Locus Specific Mutation Databases (LSDB)
CNTNAP2

Disorders for CNTNAP2 Gene

(2) OMIM Diseases for CNTNAP2 Gene (604569)

UniProtKB/Swiss-Prot

CNTP2_HUMAN
  • Cortical dysplasia-focal epilepsy syndrome (CDFES) [MIM:610042]: A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop. {ECO:0000269 PubMed:16571880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Autism 15 (AUTS15) [MIM:612100]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.

(1) Novoseek inferred disease relationships for CNTNAP2 Gene

Disease -log(P) Hits PubMed IDs
tourette syndrome 55 4

Relevant External Links for CNTNAP2

Genetic Association Database (GAD)
CNTNAP2
Human Genome Epidemiology (HuGE) Navigator
CNTNAP2
genes like me logo Genes that share disorders with CNTNAP2: view

Publications for CNTNAP2 Gene

  1. The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. (PMID: 11352571) Nakabayashi K. … Scherer S.W. (Genomics 2001) 3 4 23
  2. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. (PMID: 16571880) Strauss K.A. … Morton D.H. (N. Engl. J. Med. 2006) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  4. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. (PMID: 10624965) Poliak S. … Peles E. (Neuron 1999) 2 3 4
  5. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. (PMID: 18179893) AlarcA^n M. … Geschwind D.H. (Am. J. Hum. Genet. 2008) 3 23 49

Products for CNTNAP2 Gene

  • antibodies-online peptides for CNTNAP2
  • antibodies-online antibodies for CNTNAP2
  • antibodies-online kits for CNTNAP2

Sources for CNTNAP2 Gene

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