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The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern bl... See more...
Aliases for CNTNAP1 Gene
Aliases for CNTNAP1 Gene
External Ids for CNTNAP1 Gene
- HGNC: 8011
- Entrez Gene: 8506
- Ensembl: ENSG00000108797
- OMIM: 602346
- UniProtKB: P78357
Previous HGNC Symbols for CNTNAP1 Gene
- NRXN4
Previous GeneCards Identifiers for CNTNAP1 Gene
- GC17P040350
- GC17P042999
- GC17P040743
- GC17P041207
- GC17P038088
- GC17P040835
- GC17P036601
Summaries for CNTNAP1 Gene
-
The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
GeneCards Summary for CNTNAP1 Gene
CNTNAP1 (Contactin Associated Protein 1) is a Protein Coding gene. Diseases associated with CNTNAP1 include Lethal Congenital Contracture Syndrome 7 and Neuropathy, Congenital Hypomyelinating, 3. Among its related pathways are Neuroscience and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is CNTNAP2.
UniProtKB/Swiss-Prot Summary for CNTNAP1 Gene
-
Required, with CNTNAP2, 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 paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.
Additional gene information for CNTNAP1 Gene
- HGNC(8011)
- Entrez Gene(8506)
- Ensembl(ENSG00000108797)
- OMIM(602346)
- UniProtKB(P78357)
- Open Targets Platform(ENSG00000108797)
- Monarch Initiative
- Search for CNTNAP1 at DataMed
- Search for CNTNAP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTNAP1 Gene
Genomics for CNTNAP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CNTNAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CNTNAP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTNAP1
- Top Transcription factor binding sites by QIAGEN in the CNTNAP1 gene promoter:
-
- AML1a
- ATF-2
- c-Jun
Genomic Locations for CNTNAP1 Gene
Genomic Locations for CNTNAP1 Gene
- chr17:42,679,767-42,699,993
- (GRCh38/hg38)
- Size:
- 20,227 bases
- Orientation:
- Plus strand
- chr17:40,834,631-40,852,011
- (GRCh37/hg19)
- Size:
- 17,381 bases
- Orientation:
- Plus strand
Genomic View for CNTNAP1 Gene
Genes around CNTNAP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by HGNC
- 17q21.2 by Entrez Gene
- 17q21.2 by Ensembl
CNTNAP1 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 CNTNAP1 Gene
Proteins for CNTNAP1 Gene
-
Protein details for CNTNAP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P78357-CNTP1_HUMAN
- Recommended name:
- Contactin-associated protein 1
- Protein Accession:
- P78357
Protein attributes for CNTNAP1 Gene
- Size:
- 1384 amino acids
- Molecular mass:
- 156267 Da
- Quaternary structure:
-
- Interacts with CNTN1/contactin in cis form.
Protein Expression for CNTNAP1 Gene
Post-translational modifications for CNTNAP1 Gene
Other Protein References for CNTNAP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CNTNAP1 Antibody
- Novus Biologicals Antibodies for CNTNAP1
-
Abcam antibodies for CNTNAP1
- Invitrogen Antibodies for CNTNAP1 (AFLGC-Cntnap1)
- antibodies-online: Show 6 available CNTNAP1 Antibodies ranked by validation data
- Compare Top CNTNAP1 Antibodies
-
Recommended
- 20 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 31 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-mouse)
- 9 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CNTNAP1
Protein Products
-
OriGene Purified Proteins for CNTNAP1
- Search Origene for MassSpec and Protein Over-expression Lysates for CNTNAP1
- Origene Custom Protein Services for CNTNAP1
-
Signalway Proteins for CNTNAP1
-
Abcam proteins for CNTNAP1
Assay Products
- Novus Biologicals ELISA Kits for CNTNAP1
- antibodies-online: Show 23 available CNTNAP1 Elisa Kits ranked by validation data
- Compare Top CNTNAP1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CNTNAP1 Gene
Domains & Families for CNTNAP1 Gene
Gene Families for CNTNAP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for CNTNAP1 Gene
- InterPro:
- Blocks:
-
- Coagulation factor 5/8 type C domain (FA58C)
- Type I EGF
- Laminin G
- Neurexin/syndecan/glycophorin C
- ProtoNet:
Suggested Antigen Peptide Sequences for CNTNAP1 Gene
- GenScript: Design optimal peptide antigens:
-
- p190 (CNTP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P78357- Family:
-
- Belongs to the neurexin family.
Function for CNTNAP1 Gene
Molecular function for CNTNAP1 Gene
- UniProtKB/Swiss-Prot Function:
- Required, with CNTNAP2, 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 paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.
Phenotypes From GWAS Catalog for CNTNAP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005070 | SH3/SH2 adaptor activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 17474147 |
| GO:0017124 | SH3 domain binding | ISS | -- |
| GO:0038023 | signaling receptor activity | TAS | 9118959 |
Phenotypes for CNTNAP1 Gene
- MGI mutant phenotypes for CNTNAP1:
- inferred from 10 alleles
- GenomeRNAi human phenotypes for CNTNAP1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Synthetic lethal with Ras
- Decreased transferrin (TF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Increased Salmonella enterica Typhimurium invasion
- Increased replication of vaccinia virus (VACV)
- Decreased viability in ovarian lineage
Animal Models for CNTNAP1 Gene
- MGI Knock Outs for CNTNAP1:
-
- Ccr10/Cntnap1 Ccr10/Cntnap1<tm1Bhat>
- Cntnap1 Cntnap1<tm1Bhat>
- Cntnap1 Cntnap1<tm1Pele>
- Cntnap1 Cntnap1<tm1b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CNTNAP1 - Select products 50% OFF >
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-
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miRNA for CNTNAP1 Gene
- miRTarBase miRNAs that target CNTNAP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTNAP1
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Clone Products
- Applied Biological Materials (abm): Clones for CNTNAP1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for CNTNAP1
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Cell Line Products
-
Horizon Cell Lines for CNTNAP1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CNTNAP1 Gene
Localization for CNTNAP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CNTNAP1 Gene
- Membrane. Single-pass type I membrane protein. Cell junction, paranodal septate junction.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 3 |
| nucleus | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005887 | integral component of plasma membrane | TAS | 9118959 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA,ISS | -- |
| GO:0030054 | cell junction | IEA | -- |
| GO:0030424 | axon | IEA | -- |
Pathways & Interactions for CNTNAP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology |
.51
|
|
| 2 | L1CAM interactions | ||
| 3 | Neuroscience | ||
| 4 | Cell adhesion molecules (CAMs) | ||
Pathways by source for CNTNAP1 Gene
4 Reactome pathways for CNTNAP1 Gene
1 KEGG pathway for CNTNAP1 Gene
1 Cell Signaling Technology pathway for CNTNAP1 Gene
Interacting Proteins for CNTNAP1 Gene
Selected Interacting proteins:
P78357-CNTP1_HUMAN
ENSP00000264638
for CNTNAP1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CNTNAP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002175 | protein localization to paranode region of axon | IEA,ISS | -- |
| GO:0007010 | cytoskeleton organization | IEA,ISS | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0007165 | signal transduction | TAS | 9118959 |
| GO:0009967 | positive regulation of signal transduction | IEA | -- |
No data available for SIGNOR curated interactions for CNTNAP1 Gene
Transcripts for CNTNAP1 Gene
mRNA/cDNA for CNTNAP1 Gene
- 1 REFSEQ mRNAs :
- 3 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264638 5537 nts (view in UCSC)
- ENST00000591662 4499 nts (view in UCSC)
- ENST00000586801 838 nts (view in UCSC)
- ENST00000585534 613 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CNTNAP1 - Select products 50% OFF >
- * CNTNAP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CNTNAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTNAP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTNAP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTNAP1
- Browse OriGene Inhibitory RNA Products For CNTNAP1
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Clone Products
- Applied Biological Materials (abm): Clones for CNTNAP1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CNTNAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTNAP1
Relevant External Links for CNTNAP1 Gene
- GeneLoc Exon Structure for
- CNTNAP1
Expression for CNTNAP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for CNTNAP1 Gene
This gene is overexpressed in Brain - Cortex (x4.4) and Brain - Cerebellum (x4.0).
This gene is overexpressed in Frontal cortex (44.1), Brain (10.0), and Spinal cord (9.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNTNAP1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNTNAP1
SOURCE GeneReport for Unigene cluster for CNTNAP1 Gene:
Hs.408730mRNA Expression by UniProt/SwissProt for CNTNAP1 Gene:
P78357-CNTP1_HUMAN
Tissue specificity:
Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis.
Evidence on tissue expression from TISSUES for CNTNAP1 Gene
- Nervous system(3.7)
- Eye(3.1)
- Skin(2.3)
- Heart(2.1)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTNAP1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- face
- head
Thorax:
- lung
Pelvis:
- placenta
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for CNTNAP1
Gene Expression Assay Products
Orthologs for CNTNAP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CNTNAP1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CNTNAP1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CNTNAP1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cntnap1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cntnap1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CNTNAP1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CNTNAP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CNTNAP1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CNTNAP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cntnap1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC566220 30 |
|
||
| CNTNAP1 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nrx-IV 31 |
|
OneToOne | |
| Nrx 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | nlr-1 31 |
|
OneToOne |
- Species where no ortholog for CNTNAP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- 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 Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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)
Evolution for CNTNAP1 Gene
- ENSEMBL:
- Gene Tree for CNTNAP1 (if available)
- TreeFam:
- Gene Tree for CNTNAP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CNTNAP1: view image
Paralogs for CNTNAP1 Gene
Paralogs for CNTNAP1 Gene
- CNTNAP2 5
- CNTNAP5 5
- CNTNAP4 5
- CNTNAP3B 5
- ENSG00000287694 5
- CNTNAP3 5
- NRXN2 5
- NRXN3 5
- NRXN1 5
- CNTNAP3C 5
- F5 5
- F8 5
- HEPHL1 5
- CUBN 5
- CP 5
- HEPH 5
- MEP1B 5
- MEP1A 5
- NRP1 5
- CUZD1 5
- NRP2 5
- BMP1 5
- TLL2 5
- TLL1 5
- ASTL 5
- DCBLD2 5
- CDCP2 5
- NETO1 5
- PDGFD 5
- MFRP 5
- PDGFC 5
- NETO2 5
- MFGE8 5
- PCOLCE 5
- PCOLCE2 5
- EDIL3 5
- ENSG00000286088 5
(9) SIMAP similar genes for CNTNAP1 Gene using alignment to 3 proteins:
- CNTP1_HUMAN
- K7EMM9_HUMAN
- L8E7H9_HUMAN
Variants for CNTNAP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTNAP1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 691418 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 42,679,933(+) | C/A | MISSENSE_VARIANT | |
| 692016 | Pathogenic: Lethal congenital contracture syndrome 7 | 42,692,636(+) | C/T | NONSENSE | |
| 692274 | Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita | 42,683,822(+) | C/G | NONSENSE | |
| 692275 | Likely Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita | 42,690,789(+) | G/A | MISSENSE_VARIANT | |
| 712209 | Benign: not provided | 42,693,523(+) | A/G | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1007587 | CNV | deletion | 20482838 |
| esv33998 | OTHER | inversion | 15654335 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv833450 | CNV | loss | 17160897 |
| nsv953899 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
0.735% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.83;
58.60% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CNTNAP1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTNAP1 Gene
Disorders for CNTNAP1 Gene
(17) MalaCards diseases for CNTNAP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lethal congenital contracture syndrome 7 |
|
|
| neuropathy, congenital hypomyelinating, 3 |
|
|
| hypomyelination neuropathy-arthrogryposis syndrome |
|
|
| distal arthrogryposis |
|
|
| arthrogryposis, distal, type 1a |
|
|
Search CNTNAP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CNTP1_HUMAN- Lethal congenital contracture syndrome 7 (LCCS7) [MIM:616286]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period. {ECO:0000269 PubMed:24319099, ECO:0000269 PubMed:27782105, ECO:0000269 PubMed:28254648, ECO:0000269 PubMed:28374019}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186]: A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN3 is a severe autosomal recessive form characterized by onset of neurogenic muscle impairment in utero. Affected individuals have profoundly impaired psychomotor development and may die in infancy or early childhood. {ECO:0000269 PubMed:27668699, ECO:0000269 PubMed:27818385, ECO:0000269 PubMed:28374019, ECO:0000269 PubMed:29511323}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CNTNAP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CNTNAP1 Gene
Publications for CNTNAP1 Gene
- Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions. (PMID: 9118959) Peles E … Schlessinger J (The EMBO journal 1997) 2 3 4
- Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. (PMID: 29511323) Low KJ … Smithson SF (European journal of human genetics : EJHG 2018) 3 4
- Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. (PMID: 28254648) Lakhani S … Ben-Omran T (European journal of medical genetics 2017) 3 4
- CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. (PMID: 28374019) Hengel H … Schöls L (Neurology. Genetics 2017) 3 4
- Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. (PMID: 27782105) Nizon M … Isidor B (European journal of human genetics : EJHG 2017) 3 4
ExternalLinks
Products for CNTNAP1 Gene
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- Custom Antibody Services
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- High-throughput Antibody Production Service
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- Novus Biologicals Antibodies for CNTNAP1
- Novus Biologicals proteins and lysates for CNTNAP1
- Novus Biologicals ELISA Kits for CNTNAP1
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- Abcam antibodies for CNTNAP1
- Abcam proteins for CNTNAP1
- Find your target
- Browse Primary Antibodies
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- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
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- Invitrogen Antibodies for CNTNAP1 (AFLGC-Cntnap1)
- VectorBuilder Custom and pre-made DNA vectors for CNTNAP1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CNTNAP1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CNTNAP1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CNTNAP1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CNTNAP1
- antibodies-online: Show 6 available CNTNAP1 Antibodies ranked by validation data
- Compare Top CNTNAP1 Antibodies
- Recommended
- 20 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 31 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-mouse)
- 9 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- antibodies-online: Show 23 available CNTNAP1 Elisa Kits ranked by validation data
- Compare Top CNTNAP1 Elisa Kits
- Quality Products:
- antibodies-online: Show 8 available CNTNAP1 Proteins ranked by validation data
- Compare Top CNTNAP1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for CNTNAP1
- Search Santa Cruz Biotechnology (SCBT) for CNTNAP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CNTNAP1
- Horizon Cell Lines for CNTNAP1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTNAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTNAP1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CNTNAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTNAP1
- Signalway Proteins for CNTNAP1
Sources for CNTNAP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB