Aliases for CNTNAP2 Gene
Aliases for CNTNAP2 Gene
External Ids for CNTNAP2 Gene
- HGNC: 13830
- Entrez Gene: 26047
- Ensembl: ENSG00000174469
- OMIM: 604569
- UniProtKB: Q9UHC6
Previous GeneCards Identifiers for CNTNAP2 Gene
- GC07P144718
- GC07P145128
- GC07P145863
- GC07P145205
- GC07P145251
- GC07P145444
- GC07P139891
Summaries 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.
Additional gene information for CNTNAP2 Gene
- Monarch Initiative
- Search for CNTNAP2 at DataMed
- Search for CNTNAP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTNAP2 Gene
Genomics for CNTNAP2 Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH07J146115 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE | 650.7 | +0.4 | 439 | 1.4 | HDAC1 RB1 KLF17 SIN3A ZBTB40 CHAMP1 ZNF335 ZNF766 GLIS2 EGR1 | CNTNAP2 ENSG00000274127 | |
| GH07J146150 | Enhancer | 0.3 | FANTOM5 | 19.7 | +34.3 | 34303 | 0.6 | CNTNAP2 ENSG00000274127 | ||
| GH07J146357 | Enhancer | 0.3 | FANTOM5 | 17.1 | +241.5 | 241496 | 0.5 | CNTNAP2 GC07M146323 GC07M146417 GC07M146416 | ||
| GH07J146235 | Enhancer | 0.3 | FANTOM5 | 8 | +119.8 | 119752 | 0.4 | POLR2A | CNTNAP2 PIR61650 GC07M146204 | |
| GH07J146277 | 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 from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CNTNAP2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CNTNAP2 gene promoter:
-
- NRSF form 2
- NRSF form 1
- IRF-2
- AP-1
- HOXA3
- GATA-1
- POU3F2
- POU3F2 (N-Oct-5a)
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)
- Size:
- 2,304,638 bases
- Orientation:
- Plus strand
Genomic View for CNTNAP2 Gene
Genes around CNTNAP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q35-q36.1 by Entrez Gene
- 7q35-q36.1 by HGNC
- 7q35 by Ensembl
CNTNAP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- 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};
Protein Expression for CNTNAP2 Gene
Post-translational modifications for CNTNAP2 Gene
Other Protein References for CNTNAP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CNTNAP2 (Caspr2)
-
Custom Antibody ServicesOriGene Antibodies for CNTNAP2
- Novus Biologicals Antibodies for CNTNAP2
-
Abcam antibodies for CNTNAP2
- Invitrogen Antibodies for CNTNAP2
- GeneTex CNTNAP2 Antibody for CNTNAP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CNTNAP2
- Sino Biological Antibodies for CNTNAP2
Protein Products
- R&D Systems Proteins and Enzymes for CNTNAP2 (Caspr2)
-
OriGene Purified Proteins for CNTNAP2
- Search Origene for MassSpec and Protein Over-expression Lysates for CNTNAP2
- Origene Custom Protein Services for CNTNAP2
- Sino Biological Cell Lysates for CNTNAP2
- Sino Biological Recombinant Proteins for CNTNAP2
- antibodies-online: Search results for 6 available CNTNAP2 Proteins ranked by validation data
- Compare Top CNTNAP2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for CNTNAP2
-
Abcam proteins for CNTNAP2
Assay Products
- antibodies-online: Search results for 7 available CNTNAP2 Elisa Kits ranked by validation data
- Compare Top CNTNAP2 Elisa Kits
-
Quality Products:
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
Suggested Antigen Peptide Sequences for CNTNAP2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UHC6- Family:
-
- Belongs to the neurexin family.
Function for CNTNAP2 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0019899 | enzyme binding | IPI | 19166515 |
Phenotypes for CNTNAP2 Gene
- MGI mutant phenotypes for CNTNAP2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CNTNAP2:
Animal Models for CNTNAP2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for CNTNAP2
- Cyagen custom Knockout/knockin (KOKI) mouse models for CNTNAP2
-
CRISPR Products
-
OriGene CRISPR knockouts for CNTNAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTNAP2
- genomics-online: gRNA clones - Search results for 76 available CNTNAP2 gene related products
- Overview of 76 available CNTNAP2 gene related products
- Applied Biological Materials CRISPR for CNTNAP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTNAP2
- GenScript: Design CRISPR guide RNA sequences for CNTNAP2
miRNA for CNTNAP2 Gene
- miRTarBase miRNAs that target CNTNAP2
-
- hsa-mir-218-5p (MIRT024222)
- hsa-mir-99b-5p (MIRT044172)
- hsa-mir-4444 (MIRT573926)
- hsa-mir-6079 (MIRT573927)
- hsa-mir-4644 (MIRT573928)
- hsa-mir-4306 (MIRT573929)
- hsa-mir-185-5p (MIRT573930)
- hsa-mir-6077 (MIRT573931)
- hsa-mir-7-5p (MIRT573932)
- hsa-mir-4428 (MIRT573933)
- hsa-mir-571 (MIRT573934)
- hsa-mir-8087 (MIRT573935)
- hsa-mir-7161-5p (MIRT573936)
- hsa-mir-548u (MIRT573937)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTNAP2
- Browse OriGene Inhibitory RNA Products For CNTNAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTNAP2
- genomics-online: shRNA clones - Search results for 76 available CNTNAP2 gene related products
- Overview of 76 available CNTNAP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CNTNAP2
- VectorBuilder custom plasmid, inducible vectors for CNTNAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CNTNAP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTNAP2
- Applied Biological Materials Clones for CNTNAP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CNTNAP2 (Caspr2)
Cell Line Products
-
Horizon Cell Lines for CNTNAP2
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 4 |
| endosome | 4 |
| extracellular | 2 |
| endoplasmic reticulum | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTNAP2 Gene
Pathways & Interactions for CNTNAP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell adhesion molecules (CAMs) | ||
| 2 | Neuroscience | ||
Pathways by source for CNTNAP2 Gene
1 KEGG pathway for CNTNAP2 Gene
1 Cell Signaling Technology pathway for CNTNAP2 Gene
Interacting Proteins for CNTNAP2 Gene
Selected Interacting proteins:
Q9UHC6-CNTP2_HUMAN
ENSP00000354778
for CNTNAP2 Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for CNTNAP2
| 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 |
No data available for SIGNOR curated interactions for CNTNAP2 Gene
Transcripts for CNTNAP2 Gene
mRNA/cDNA for CNTNAP2 Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (6) Selected AceView cDNA sequences:
- (24) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000625365 676 bps (uc064iyn.1)
- ENST00000361727 9896 bps (uc003weu.3)
- ENST00000637150 1767 bps
- ENST00000637105 100 bps
- ENST00000636561 1787 bps
Unigene Clusters for CNTNAP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CNTNAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTNAP2
- genomics-online: gRNA clones - Search results for 76 available CNTNAP2 gene related products
- Overview of 76 available CNTNAP2 gene related products
- Applied Biological Materials CRISPR for CNTNAP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTNAP2
- GenScript: Design CRISPR guide RNA sequences for CNTNAP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTNAP2
- Browse OriGene Inhibitory RNA Products For CNTNAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTNAP2
- genomics-online: shRNA clones - Search results for 76 available CNTNAP2 gene related products
- Overview of 76 available CNTNAP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CNTNAP2
- VectorBuilder custom plasmid, inducible vectors for CNTNAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CNTNAP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTNAP2
- Applied Biological Materials Clones for CNTNAP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CNTNAP2 (Caspr2)
Expression for CNTNAP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Hippocampus
- Cerebellum
- Cerebral Cortex
- Lateral Ventricle
- Inner Cell Mass (Early Embryonic Tissues)
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
- Retina
- Corneal Epithelium
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
- Dorsal forebrain-like neurons(Kriks S et. al. 2011)
-
Kidney (Urinary System)
- Ureteric Bud Tip Cells Ureteric Bud
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
- Thyroid (Endocrine System)
- Primitive Streak (Early Embryonic Tissues)
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).
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, MaxQB, and MOPED for CNTNAP2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CNTNAP2 Gene:
CNTNAP2SOURCE GeneReport for Unigene cluster for CNTNAP2 Gene:
Hs.655684mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for CNTNAP2
-
OriGene qPCR primer pairs for CNTNAP2
- genomics-online: primer clones - Search results for 76 available CNTNAP2 gene related products
- Overview of 76 available CNTNAP2 gene related products
Gene Expression Assay Products
Orthologs for CNTNAP2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CNTNAP2 33 |
|
||
| dog (Canis familiaris) |
Mammalia | CNTNAP2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CNTNAP2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cntnap2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cntnap2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CNTNAP2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CNTNAP2 33 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cntnap2 33 |
|
||
| Str.12894 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | cntnap2a 33 |
|
||
| CNTNAP2 34 |
|
OneToMany | |||
| Dr.16289 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Nrx-IV 33 |
|
||
| Nrx 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007545 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CNTNAP2: view image
Paralogs for CNTNAP2 Gene
Paralogs for CNTNAP2 Gene
(28) SIMAP similar genes for CNTNAP2 Gene using alignment to 21 proteins:
- CNTP2_HUMAN
- B7Z1Y6_HUMAN
- H0Y4J0_HUMAN
- O75852_HUMAN
- Q75LG9_HUMAN
- Q75M92_HUMAN
- Q75MA1_HUMAN
- Q75MD4_HUMAN
- Q75MF6_HUMAN
- Q75MF8_HUMAN
- Q75MQ9_HUMAN
- Q86UI8_HUMAN
- Q86UJ1_HUMAN
- Q86UL4_HUMAN
- Q86UL6_HUMAN
- Q86UL9_HUMAN
- Q96T77_HUMAN
- Q96T78_HUMAN
- Q96T79_HUMAN
- Q96T80_HUMAN
- Q9UDV4_HUMAN
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTNAP2 Gene
Disorders for CNTNAP2 Gene
(23) MalaCards diseases for CNTNAP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pitt-hopkins-like syndrome 1 |
|
|
| autism 15 |
|
|
| pitt-hopkins-like syndrome |
|
|
| benign epilepsy with centrotemporal spikes |
|
|
| pitt-hopkins syndrome |
|
|
Search CNTNAP2 in MalaCards
View complete list of genes associated with diseases
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.
- 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:16571880, 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
No data available for Genatlas for CNTNAP2 Gene
Publications for CNTNAP2 Gene
- 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
- 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
- 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
- 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
- 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
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Sources for CNTNAP2 Gene
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