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CNTNAP2 Gene(Protein Coding)

Contactin Associated Protein Like 2

GCID:
GC07P146116
GIFtS:
53
Genes Participants
UDN Logo

Aliases for CNTNAP2 Gene

Aliases for CNTNAP2 Gene

  • Contactin Associated Protein Like 2 2 3 5
  • Cell Recognition Molecule Caspr2 3 4
  • CASPR2 3 4
  • Contactin-Associated Protein-Like 2 3
  • Homolog Of Drosophila Neurexin IV 3
  • KIAA0868 4
  • AUTS15 3
  • PTHSL1 3
  • NRXN4 3
  • CDFE 3

External Ids for CNTNAP2 Gene

Previous GeneCards Identifiers for CNTNAP2 Gene

  • GC07P144718
  • GC07P145128
  • GC07P145863
  • GC07P145205
  • GC07P145251
  • GC07P145444
  • GC07P139891

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, 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]

GeneCards Summary for CNTNAP2 Gene

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.

UniProtKB/Swiss-Prot for CNTNAP2 Gene

  • 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.

Gene Wiki entry for CNTNAP2 Gene

Additional gene information for CNTNAP2 Gene

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

Genomics for CNTNAP2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CNTNAP2 Gene

Promoters and enhancers for CNTNAP2 Gene
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
GH07I146115 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.4 439 1.4 HDAC1 RB1 KLF17 SIN3A ZBTB40 CHAMP1 ZNF335 ZNF766 GLIS2 EGR1 CNTNAP2 ENSG00000274127
GH07I146150 Enhancer 0.3 FANTOM5 19.7 +34.3 34303 0.6 CNTNAP2 ENSG00000274127
GH07I146357 Enhancer 0.3 FANTOM5 17.1 +241.5 241496 0.5 CNTNAP2 GC07M146323 GC07M146416 GC07M146417
GH07I146235 Enhancer 0.3 FANTOM5 8 +119.8 119752 0.4 POLR2A CNTNAP2 PIR61650 GC07M146204
GH07I146277 Enhancer 0.2 FANTOM5 9.6 +161.5 161485 0.3 GC07M146275 CNTNAP2 GC07M146280
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CNTNAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNTNAP2 gene promoter:

Genomic Locations for CNTNAP2 Gene

Genomic Locations for CNTNAP2 Gene
chr7:146,116,002-148,420,998
(GRCh38/hg38)
Size:
2,304,997 bases
Orientation:
Plus strand
chr7:145,813,453-148,118,090
(GRCh37/hg19)

Genomic View for CNTNAP2 Gene

Genes around CNTNAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTNAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTNAP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CNTNAP2 Gene

Proteins for CNTNAP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNTNAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTNAP2 Gene

Protein Expression for CNTNAP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CNTNAP2 Gene

  • Glycosylation at posLast=289289, Asn346, posLast=363363, Asn379, Asn436, posLast=506506, Asn507, Asn546, Asn630, posLast=735735, posLast=11161116, and Asn1198
  • Modification sites at PhosphoSitePlus

Other Protein References for CNTNAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CNTNAP2
  • Santa Cruz Biotechnology (SCBT) Antibodies for CNTNAP2

No data available for DME Specific Peptides for CNTNAP2 Gene

Domains & Families for CNTNAP2 Gene

Gene Families for CNTNAP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CNTNAP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CNTNAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHC6

UniProtKB/Swiss-Prot:

CNTP2_HUMAN :
  • Belongs to the neurexin family.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with CNTNAP2: view

Function for CNTNAP2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CNTNAP2 Gene

UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for CNTNAP2 Gene

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

Human Phenotype Ontology for CNTNAP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNTNAP2 Gene

MGI Knock Outs for CNTNAP2:

Animal Model Products

  • Taconic Biosciences Mouse Models for CNTNAP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Cell junction, paranodal septate junction. Note=Expressed in the juxtaparadonal region. {ECO:0000250 UniProtKB:Q9CPW0}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNTNAP2 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
endosome 4
extracellular 2
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 NAS 10624965
GO:0009986 cell surface IDA 19706678
GO:0016020 membrane IDA,IEA 10624965
genes like me logo Genes that share ontologies with CNTNAP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTNAP2 Gene

Pathways & Interactions for CNTNAP2 Gene

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

Pathways by source for CNTNAP2 Gene

1 KEGG pathway for CNTNAP2 Gene
1 Cell Signaling Technology 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

No data available for SIGNOR curated interactions for CNTNAP2 Gene

Drugs & Compounds for CNTNAP2 Gene

Products:

  1. Drug

(1) Drugs for CNTNAP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CNTNAP2: view

Transcripts for CNTNAP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CNTNAP2 Gene

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

Unigene Clusters for CNTNAP2 Gene

Contactin associated protein-like 2:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNTNAP2 Gene

mRNA expression in normal human tissues for CNTNAP2 Gene
mRNA expression by BioGPS for CNTNAP2 GenemRNA expression by GTEx 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) (x8.1), Brain - Cortex (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.7), Brain - Spinal cord (cervical c-1) (x5.3), and Brain - Amygdala (x4.6).

Protein differential expression in normal tissues from HIPED for CNTNAP2 Gene

This gene is overexpressed in Frontal cortex (41.2), Fetal Brain (9.7), and Brain (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CNTNAP2 Gene



Protein tissue co-expression partners for CNTNAP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNTNAP2 Gene:

CNTNAP2

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.

Evidence on tissue expression from TISSUES for CNTNAP2 Gene

  • Nervous system(4.9)
  • Eye(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTNAP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • lip
  • mouth
  • salivary gland
  • tongue
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns 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 33
  • 99.17 (n)
dog
(Canis familiaris)
 Mammalia CNTNAP2 33 34
  • 90.23 (n)
cow
(Bos Taurus)
 Mammalia CNTNAP2 33 34
  • 89.21 (n)
rat
(Rattus norvegicus)
 Mammalia Cntnap2 33
  • 88.11 (n)
mouse
(Mus musculus)
 Mammalia Cntnap2 33 16 34
  • 87.78 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CNTNAP2 34
  • 87 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CNTNAP2 33
  • 76.69 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia cntnap2 33
  • 72.44 (n)
Str.12894 33
zebrafish
(Danio rerio)
 Actinopterygii cntnap2a 33
  • 69.72 (n)
CNTNAP2 34
  • 64 (a)
 OneToMany
Dr.16289 33
fruit fly
(Drosophila melanogaster)
 Insecta Nrx-IV 33
  • 46.98 (n)
Nrx 35
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007545 33
  • 46 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 32 (a)
 OneToOne
Species where no ortholog for CNTNAP2 was found in the sources mined by GeneCards:
  • 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

Variants for CNTNAP2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CNTNAP2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1006934527 uncertain-significance, Pitt-Hopkins-like syndrome, Cortical dysplasia-focal epilepsy syndrome 146,116,742(+) G/A 5_prime_UTR_variant
rs1022464988 uncertain-significance, Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins-like syndrome 148,416,056(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10240482 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins-like syndrome 147,977,856(+) A/G/T genic_downstream_transcript_variant, intron_variant
rs10240503 conflicting-interpretations-of-pathogenicity, benign, not specified, Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins-like syndrome 147,977,886(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs10243309 benign, Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins-like syndrome 148,418,537(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1142n67 CNV loss 20364138
dgv1143n67 CNV loss 20364138
dgv1144n67 CNV loss 20364138
dgv1145n67 CNV loss 20364138
dgv11702n54 CNV loss 21841781
dgv11703n54 CNV gain 21841781
dgv11704n54 CNV gain 21841781
dgv11705n54 CNV loss 21841781
dgv11706n54 CNV loss 21841781
dgv11707n54 CNV loss 21841781
dgv11708n54 CNV gain 21841781
dgv11709n54 CNV loss 21841781
dgv11710n54 CNV gain+loss 21841781
dgv11711n54 CNV gain 21841781
dgv1246e199 CNV deletion 23128226
dgv1247e199 CNV deletion 23128226
dgv1333e214 CNV loss 21293372
dgv153e203 CNV loss 21179565
dgv177e180 CNV loss 20482838
dgv1979e212 CNV gain 25503493
dgv1980e212 CNV loss 25503493
dgv1981e212 CNV loss 25503493
dgv1982e212 CNV loss 25503493
dgv1983e212 CNV loss 25503493
dgv1984e212 CNV loss 25503493
dgv1985e212 CNV loss 25503493
dgv1986e212 CNV loss 25503493
dgv1987e212 CNV loss 25503493
dgv1988e212 CNV loss 25503493
dgv1989e212 CNV loss 25503493
dgv1990e212 CNV loss 25503493
dgv1991e212 CNV loss 25503493
dgv1992e212 CNV loss 25503493
dgv1993e212 CNV loss 25503493
dgv3688n106 CNV duplication 24896259
dgv3689n106 CNV deletion 24896259
dgv3690n106 CNV deletion 24896259
dgv434n21 CNV loss 19592680
dgv455e215 CNV deletion 23714750
dgv6746n100 CNV loss 25217958
dgv6747n100 CNV gain 25217958
dgv6748n100 CNV gain 25217958
dgv6749n100 CNV gain 25217958
dgv6750n100 CNV gain 25217958
dgv843n27 CNV gain 19166990
esv1003793 CNV gain 20482838
esv1148307 CNV insertion 17803354
esv1283707 CNV insertion 17803354
esv1309761 CNV deletion 17803354
esv1314998 CNV insertion 17803354
esv1335099 CNV insertion 17803354
esv1388043 CNV insertion 17803354
esv1417163 CNV deletion 17803354
esv1524405 CNV insertion 17803354
esv1669432 CNV insertion 17803354
esv1726659 CNV insertion 17803354
esv1961157 CNV deletion 18987734
esv2028241 CNV deletion 18987734
esv21898 CNV loss 19812545
esv22075 CNV gain 19812545
esv22430 CNV loss 19812545
esv22733 CNV loss 19812545
esv2313395 CNV deletion 18987734
esv2421508 CNV deletion 20811451
esv2441804 CNV deletion 19546169
esv2491993 CNV loss 19546169
esv2522287 CNV deletion 19546169
esv2524864 CNV deletion 19546169
esv2558199 CNV deletion 19546169
esv2614694 CNV deletion 19546169
esv26161 CNV gain 19812545
esv26187 CNV loss 19812545
esv2656543 CNV deletion 23128226
esv2658548 CNV deletion 23128226
esv2662776 CNV deletion 23128226
esv2663251 CNV deletion 23128226
esv2665938 CNV deletion 23128226
esv2665985 CNV deletion 23128226
esv2667437 CNV deletion 23128226
esv2670530 CNV deletion 23128226
esv2670699 CNV deletion 23128226
esv2677971 CNV deletion 23128226
esv27243 CNV gain 19812545
esv2735298 CNV deletion 23290073
esv2735299 CNV deletion 23290073
esv2735300 CNV deletion 23290073
esv2735301 CNV deletion 23290073
esv2735302 CNV deletion 23290073
esv2735303 CNV deletion 23290073
esv2735304 CNV deletion 23290073
esv2735305 CNV deletion 23290073
esv2735307 CNV deletion 23290073
esv2735308 CNV deletion 23290073
esv2735309 CNV deletion 23290073
esv2735310 CNV deletion 23290073
esv2735311 CNV deletion 23290073
esv2735312 CNV deletion 23290073
esv2735313 CNV deletion 23290073
esv2735314 CNV deletion 23290073
esv2735315 CNV deletion 23290073
esv2735316 CNV deletion 23290073
esv2735318 CNV deletion 23290073
esv2735319 CNV deletion 23290073
esv2735320 CNV deletion 23290073
esv2735321 CNV deletion 23290073
esv2735322 CNV deletion 23290073
esv2735323 CNV deletion 23290073
esv2735324 CNV deletion 23290073
esv275461 CNV loss 21479260
esv2761376 CNV loss 21179565
esv2761378 CNV loss 21179565
esv2761379 CNV loss 21179565
esv2761380 CNV gain 21179565
esv2762709 CNV loss 21179565
esv3275718 CNV deletion 24192839
esv32966 CNV loss 17666407
esv3306044 CNV mobile element insertion 20981092
esv3306108 CNV mobile element insertion 20981092
esv3306425 CNV mobile element insertion 20981092
esv3307592 CNV mobile element insertion 20981092
esv3307607 CNV mobile element insertion 20981092
esv3307922 CNV mobile element insertion 20981092
esv3308956 CNV mobile element insertion 20981092
esv3344454 CNV insertion 20981092
esv3352963 CNV insertion 20981092
esv3375379 CNV insertion 20981092
esv3380128 CNV insertion 20981092
esv3380933 CNV insertion 20981092
esv3384319 CNV insertion 20981092
esv3396108 CNV insertion 20981092
esv33975 CNV loss 17666407
esv3414177 CNV insertion 20981092
esv3425525 CNV insertion 20981092
esv3430170 CNV duplication 20981092
esv3430900 CNV insertion 20981092
esv3542591 CNV deletion 23714750
esv3542594 CNV deletion 23714750
esv3542602 CNV deletion 23714750
esv3542604 CNV deletion 23714750
esv3542617 CNV deletion 23714750
esv3542618 CNV deletion 23714750
esv3572233 CNV loss 25503493
esv3572234 CNV loss 25503493
esv3572237 CNV loss 25503493
esv3572238 CNV loss 25503493
esv3572240 CNV loss 25503493
esv3572241 CNV loss 25503493
esv3572244 CNV loss 25503493
esv3572245 CNV loss 25503493
esv3572252 CNV loss 25503493
esv3572254 CNV loss 25503493
esv3572262 CNV loss 25503493
esv3572266 CNV loss 25503493
esv3572267 CNV loss 25503493
esv3572268 CNV loss 25503493
esv3572279 CNV loss 25503493
esv3572287 CNV loss 25503493
esv3572291 CNV loss 25503493
esv3576474 CNV gain 25503493
esv3576476 CNV gain 25503493
esv3576477 CNV gain 25503493
esv3576478 CNV gain 25503493
esv3576479 CNV gain 25503493
esv3615363 CNV loss 21293372
esv3615364 CNV loss 21293372
esv3615365 CNV loss 21293372
esv3615366 CNV loss 21293372
esv3615367 CNV gain 21293372
esv3615368 CNV loss 21293372
esv3615369 CNV gain 21293372
esv3615370 CNV loss 21293372
esv3615371 CNV loss 21293372
esv3615372 CNV gain 21293372
esv3615373 CNV loss 21293372
esv3615374 CNV loss 21293372
esv3615375 CNV loss 21293372
esv3615376 CNV loss 21293372
esv3615377 CNV loss 21293372
esv3615378 CNV loss 21293372
esv3615379 CNV loss 21293372
esv3615380 CNV loss 21293372
esv3615381 CNV loss 21293372
esv3615384 CNV loss 21293372
esv3615386 CNV loss 21293372
esv3615387 CNV loss 21293372
esv3615392 CNV loss 21293372
esv3615393 CNV loss 21293372
esv3615396 CNV gain 21293372
esv3615398 CNV loss 21293372
esv3615399 CNV loss 21293372
esv3615401 CNV loss 21293372
esv3615402 CNV loss 21293372
esv3615403 CNV loss 21293372
esv3615406 CNV loss 21293372
esv3615407 CNV loss 21293372
esv3615408 CNV loss 21293372
esv3615409 CNV loss 21293372
esv3615411 CNV loss 21293372
esv3615412 CNV loss 21293372
esv3615413 CNV loss 21293372
esv3891227 CNV loss 25118596
esv3891228 CNV loss 25118596
esv3891229 CNV loss 25118596
esv3891230 CNV loss 25118596
esv3891231 CNV loss 25118596
esv4983 CNV loss 18987735
esv6241 CNV gain 19470904
esv6780 CNV loss 19470904
esv7713 CNV loss 19470904
esv991390 CNV deletion 20482838
esv993123 CNV deletion 20482838
esv999216 CNV gain 20482838
nsv1016943 CNV loss 25217958
nsv1018605 CNV loss 25217958
nsv1019300 CNV loss 25217958
nsv1021542 CNV loss 25217958
nsv1021923 CNV loss 25217958
nsv1022058 CNV loss 25217958
nsv1022547 CNV loss 25217958
nsv1023913 CNV loss 25217958
nsv1024540 CNV gain 25217958
nsv1024679 CNV loss 25217958
nsv1024692 CNV loss 25217958
nsv1026360 CNV gain 25217958
nsv1026834 CNV loss 25217958
nsv1027561 CNV loss 25217958
nsv1029946 CNV gain 25217958
nsv1033398 CNV loss 25217958
nsv1034346 CNV loss 25217958
nsv1034510 CNV loss 25217958
nsv1034528 CNV loss 25217958
nsv1074697 CNV deletion 25765185
nsv1075069 CNV deletion 25765185
nsv1075070 CNV deletion 25765185
nsv1076012 CNV deletion 25765185
nsv1076013 CNV deletion 25765185
nsv1109922 CNV deletion 24896259
nsv1115023 CNV deletion 24896259
nsv1115024 CNV deletion 24896259
nsv1115025 CNV deletion 24896259
nsv1117766 CNV deletion 24896259
nsv1117767 CNV deletion 24896259
nsv1119144 CNV deletion 24896259
nsv1120164 OTHER inversion 24896259
nsv1124279 CNV deletion 24896259
nsv1125262 CNV insertion 24896259
nsv1125927 CNV tandem duplication 24896259
nsv1132092 CNV deletion 24896259
nsv1132093 CNV deletion 24896259
nsv1132094 CNV deletion 24896259
nsv1132095 CNV deletion 24896259
nsv1132661 CNV duplication 24896259
nsv1137303 CNV deletion 24896259
nsv1147555 CNV deletion 26484159
nsv1152142 CNV insertion 26484159
nsv1152566 CNV duplication 26484159
nsv365313 CNV deletion 16902084
nsv365559 CNV deletion 16902084
nsv366532 CNV deletion 16902084
nsv366677 CNV deletion 16902084
nsv366797 CNV deletion 16902084
nsv366964 CNV deletion 16902084
nsv428189 CNV loss 18775914
nsv436545 CNV deletion 17901297
nsv442075 CNV gain+loss 18776908
nsv465186 CNV gain 19166990
nsv465193 CNV loss 19166990
nsv470397 CNV loss 18288195
nsv472448 CNV novel sequence insertion 20440878
nsv474603 CNV novel sequence insertion 20440878
nsv475959 CNV novel sequence insertion 20440878
nsv477821 CNV novel sequence insertion 20440878
nsv479178 CNV novel sequence insertion 20440878
nsv479819 CNV novel sequence insertion 20440878
nsv480297 CNV novel sequence insertion 20440878
nsv499446 CNV loss 21111241
nsv507426 OTHER sequence alteration 20534489
nsv507427 OTHER sequence alteration 20534489
nsv509223 CNV insertion 20534489
nsv510119 OTHER sequence alteration 20534489
nsv511371 CNV loss 21212237
nsv511997 CNV loss 21212237
nsv514456 CNV loss 21397061
nsv514457 CNV loss 21397061
nsv515777 CNV gain+loss 19592680
nsv517352 CNV loss 19592680
nsv517892 CNV gain 19592680
nsv519590 CNV gain 19592680
nsv521212 CNV loss 19592680
nsv521548 CNV loss 19592680
nsv522426 CNV gain 19592680
nsv522917 CNV loss 19592680
nsv523284 CNV loss 19592680
nsv523350 CNV loss 19592680
nsv524528 CNV loss 19592680
nsv525283 CNV loss 19592680
nsv526330 CNV loss 19592680
nsv526693 CNV gain 19592680
nsv5992 CNV deletion 18451855
nsv5993 CNV deletion 18451855
nsv5994 CNV deletion 18451855
nsv5995 CNV insertion 18451855
nsv5996 CNV deletion 18451855
nsv5997 CNV insertion 18451855
nsv5998 CNV insertion 18451855
nsv6000 CNV deletion 18451855
nsv608927 CNV loss 21841781
nsv608928 CNV loss 21841781
nsv608932 CNV loss 21841781
nsv608939 CNV loss 21841781
nsv608940 CNV loss 21841781
nsv608941 CNV gain 21841781
nsv608942 CNV loss 21841781
nsv608943 CNV loss 21841781
nsv608953 CNV loss 21841781
nsv608954 CNV gain 21841781
nsv608960 CNV gain 21841781
nsv608963 CNV loss 21841781
nsv608964 CNV loss 21841781
nsv608965 CNV loss 21841781
nsv608966 CNV loss 21841781
nsv818568 CNV loss 17921354
nsv818569 CNV loss 17921354
nsv819325 CNV loss 19587683
nsv819835 CNV gain 19587683
nsv820722 CNV deletion 20802225
nsv824368 CNV gain 20364138
nsv824372 CNV loss 20364138
nsv824373 CNV loss 20364138
nsv824383 CNV loss 20364138
nsv955989 CNV deletion 24416366
nsv957008 CNV deletion 24416366
nsv957030 CNV deletion 24416366
nsv957035 CNV deletion 24416366
nsv957585 CNV deletion 24416366
nsv970958 CNV duplication 23825009

Variation tolerance for CNTNAP2 Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 50.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNTNAP2 Gene

Human Gene Mutation Database (HGMD)
CNTNAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTNAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTNAP2 Gene

Disorders for CNTNAP2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for CNTNAP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CNTP2_HUMAN
  • 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. {ECO:0000269 PubMed:18179895}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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.
  • 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.
  • Pitt-Hopkins-like syndrome 1 (PTHSL1) [MIM:610042]: A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones. {ECO:0000269 PubMed:19896112}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CNTNAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CNTNAP2: view

No data available for Genatlas for CNTNAP2 Gene

Publications for CNTNAP2 Gene

  1. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. (PMID: 19896112) Zweier C … Rauch A (American journal of human genetics 2009) 3 4 22 58
  2. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. (PMID: 18179893) Alarcón M … Geschwind DH (American journal of human genetics 2008) 3 22 44 58
  3. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. (PMID: 18179894) Arking DE … Chakravarti A (American journal of human genetics 2008) 3 22 44 58
  4. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. (PMID: 18179895) Bakkaloglu B … State MW (American journal of human genetics 2008) 3 4 22 58
  5. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. (PMID: 16571880) Strauss KA … Morton DH (The New England journal of medicine 2006) 3 4 22 58

Products for CNTNAP2 Gene

Sources for CNTNAP2 Gene

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