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Aliases for CNTNAP4 Gene

Aliases for CNTNAP4 Gene

  • Contactin Associated Protein Like 4 2 3
  • Contactin Associated Protein-Like 4 2 3 5
  • Cell Recognition Molecule Caspr4 3 4
  • CASPR4 3 4
  • KIAA1763 4

External Ids for CNTNAP4 Gene

Previous GeneCards Identifiers for CNTNAP4 Gene

  • GC16P076123
  • GC16P074868
  • GC16P074901
  • GC16P062072

Summaries for CNTNAP4 Gene

Entrez Gene Summary for CNTNAP4 Gene

  • This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein 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, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]

GeneCards Summary for CNTNAP4 Gene

CNTNAP4 (Contactin Associated Protein Like 4) is a Protein Coding gene. An important paralog of this gene is CNTNAP1.

UniProtKB/Swiss-Prot for CNTNAP4 Gene

  • Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuating dopamine release through a presynaptic mechanism. Also participates in the GABAergic system (By similarity).

Gene Wiki entry for CNTNAP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTNAP4 Gene

Genomics for CNTNAP4 Gene

Regulatory Elements for CNTNAP4 Gene

Enhancers for CNTNAP4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CNTNAP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNTNAP4 Gene

Chromosome:
16
Start:
76,277,278 bp from pter
End:
76,560,884 bp from pter
Size:
283,607 bases
Orientation:
Plus strand

Genomic View for CNTNAP4 Gene

Genes around CNTNAP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTNAP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTNAP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTNAP4 Gene

Proteins for CNTNAP4 Gene

  • Protein details for CNTNAP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0A0-CNTP4_HUMAN
    Recommended name:
    Contactin-associated protein-like 4
    Protein Accession:
    Q9C0A0
    Secondary Accessions:
    • E9PFZ6
    • Q86YZ7

    Protein attributes for CNTNAP4 Gene

    Size:
    1308 amino acids
    Molecular mass:
    145274 Da
    Quaternary structure:
    • Interacts with TIAM1.
    SequenceCaution:
    • Sequence=BAB21854.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CNTNAP4 Gene

    Alternative splice isoforms for CNTNAP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTNAP4 Gene

Proteomics data for CNTNAP4 Gene at MOPED

Post-translational modifications for CNTNAP4 Gene

  • Glycosylation at Asn 260, Asn 285, Asn 359, Asn 538, Asn 574, Asn 602, Asn 625, Asn 637, Asn 706, Asn 748, Asn 1023, and Asn 1073
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNTNAP4 Gene

Domains & Families for CNTNAP4 Gene

Suggested Antigen Peptide Sequences for CNTNAP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9C0A0

UniProtKB/Swiss-Prot:

CNTP4_HUMAN :
  • Contains 2 EGF-like domains.
  • Belongs to the neurexin family.
Domain:
  • Contains 2 EGF-like domains.
  • Contains 1 F5/8 type C domain.
  • Contains 1 fibrinogen C-terminal domain.
  • Contains 4 laminin G-like domains.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with CNTNAP4: view

No data available for Gene Families for CNTNAP4 Gene

Function for CNTNAP4 Gene

Molecular function for CNTNAP4 Gene

UniProtKB/Swiss-Prot Function:
Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuating dopamine release through a presynaptic mechanism. Also participates in the GABAergic system (By similarity).
genes like me logo Genes that share phenotypes with CNTNAP4: view

Animal Models for CNTNAP4 Gene

MGI Knock Outs for CNTNAP4:

Animal Model Products

  • Taconic Biosciences Mouse Models for CNTNAP4

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CNTNAP4 Gene

Localization for CNTNAP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTNAP4 Gene

Cell junction, synapse, presynaptic cell membrane; Single-pass type I membrane protein. Note=Specifically present within the presynaptic compartment of synapses. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTNAP4 Gene COMPARTMENTS Subcellular localization image for CNTNAP4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNTNAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030054 cell junction IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with CNTNAP4: view

Pathways & Interactions for CNTNAP4 Gene

SuperPathways for CNTNAP4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNTNAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032228 regulation of synaptic transmission, GABAergic ISS --
GO:2000821 regulation of grooming behavior ISS --
genes like me logo Genes that share ontologies with CNTNAP4: view

No data available for Pathways by source and SIGNOR curated interactions for CNTNAP4 Gene

Drugs & Compounds for CNTNAP4 Gene

No Compound Related Data Available

Transcripts for CNTNAP4 Gene

Unigene Clusters for CNTNAP4 Gene

Contactin associated protein-like 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNTNAP4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - -
SP2: - - - -
SP3: -
SP4: -

ExUns: 24 ^ 25a · 25b · 25c
SP1:
SP2:
SP3:
SP4:

Relevant External Links for CNTNAP4 Gene

GeneLoc Exon Structure for
CNTNAP4
ECgene alternative splicing isoforms for
CNTNAP4

Expression for CNTNAP4 Gene

mRNA expression in normal human tissues for CNTNAP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNTNAP4 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x15.9), Brain - Substantia nigra (x7.1), Brain - Hippocampus (x4.2), and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for CNTNAP4 Gene

This gene is overexpressed in Serum (56.1) and Heart (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CNTNAP4 Gene



SOURCE GeneReport for Unigene cluster for CNTNAP4 Gene Hs.461389

genes like me logo Genes that share expression patterns with CNTNAP4: view

Protein tissue co-expression partners for CNTNAP4 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CNTNAP4 Gene

Orthologs for CNTNAP4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNTNAP4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CNTNAP4 35
  • 87.13 (n)
  • 88.23 (a)
CNTNAP4 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNTNAP4 35
  • 89.7 (n)
  • 90.44 (a)
CNTNAP4 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntnap4 35
  • 84.4 (n)
  • 86.47 (a)
Cntnap4 16
Cntnap4 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNTNAP4 35
  • 99.36 (n)
  • 99.01 (a)
CNTNAP4 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntnap4 35
  • 83.74 (n)
  • 85.47 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CNTNAP4 35
  • 74.14 (n)
  • 69.7 (a)
-- 36
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cntnap4 35
  • 67.48 (n)
  • 62.25 (a)
Str.12644 35
zebrafish
(Danio rerio)
Actinopterygii si:ch211-122m3.1 35
  • 60.03 (n)
  • 55.61 (a)
cntnap2b 36
  • 47 (a)
ManyToMany
Species with no ortholog for CNTNAP4:
  • A. gosspyii yeast (Ashbya 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for CNTNAP4 Gene

ENSEMBL:
Gene Tree for CNTNAP4 (if available)
TreeFam:
Gene Tree for CNTNAP4 (if available)

Paralogs for CNTNAP4 Gene

Paralogs for CNTNAP4 Gene

(9) SIMAP similar genes for CNTNAP4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CNTNAP4: view

Variants for CNTNAP4 Gene

Sequence variations from dbSNP and Humsavar for CNTNAP4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs6564343 - 76,467,407(+) TTTCA(C/G)GGATG reference, missense
rs7202925 - 76,553,305(+) CAGGA(G/T)ACTGC reference, missense
rs34198820 - 76,558,655(-) TTTCA(C/T)TGACT reference, missense
rs34251012 - 76,448,850(+) CAGTG(C/G)TCATC upstream-variant-2KB, reference, missense
rs12933808 - 76,498,686(+) CTGCC(A/G)GGGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CNTNAP4 Gene

Variant ID Type Subtype PubMed ID
nsv906935 CNV Gain 21882294
nsv906936 CNV Gain 21882294
nsv833285 CNV Gain 17160897
nsv833286 CNV Gain 17160897
esv271166 CNV Insertion 20981092
nsv518584 CNV Loss 19592680
esv268757 CNV Insertion 20981092
nsv906943 CNV Gain 21882294
nsv457537 CNV Loss 19166990
nsv457538 CNV Loss 19166990
nsv518437 CNV Loss 19592680
esv22369 CNV Loss 19812545
esv267508 CNV Insertion 20981092
nsv833287 CNV Gain 17160897
esv2677501 CNV Deletion 23128226
nsv1883 CNV Loss 18451855
nsv906944 CNV Gain 21882294
nsv511568 CNV Loss 21212237
nsv819599 CNV Loss 19587683
nsv511051 CNV Complex 20534489
esv990642 CNV Deletion 20482838
nsv512446 CNV Loss 21212237
esv4230 CNV Deletion 18987735
esv2714721 CNV Deletion 23290073
dgv505e199 CNV Deletion 23128226
dgv60e180 CNV Loss 20482838
esv29767 CNV Loss 19812545
esv8906 CNV Loss 19470904
dgv492n67 CNV Loss 20364138
nsv514815 CNV Loss 21397061
esv2422474 CNV Deletion 17116639
nsv906945 CNV Gain 21882294
esv2714722 CNV Deletion 23290073
esv2714723 CNV Deletion 23290073
nsv906946 CNV Gain 21882294

Variation tolerance for CNTNAP4 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.66; 91.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNTNAP4 Gene

Human Gene Mutation Database (HGMD)
CNTNAP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTNAP4 Gene

Disorders for CNTNAP4 Gene

Relevant External Links for CNTNAP4

Genetic Association Database (GAD)
CNTNAP4
Human Genome Epidemiology (HuGE) Navigator
CNTNAP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTNAP4

No disorders were found for CNTNAP4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CNTNAP4 Gene

Publications for CNTNAP4 Gene

  1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A. … Schmitz G. (PLoS Genet. 2012) 3 48 67
  2. Caspr3 and Caspr4, two novel members of the Caspr family are expressed in the nervous system and interact with PDZ domains. (PMID: 12093160) Spiegel I. … Peles E. (Mol. Cell. Neurosci. 2002) 2 3
  3. Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients. (PMID: 24811271) Kennedy R.B. … Poland G.A. (Immunogenetics 2014) 3
  4. A common copy number variation (CNV) polymorphism in the CNTNAP4 gene: association with aging in females. (PMID: 24223195) Iakoubov L. … Puzianowska-Kuznicka M. (PLoS ONE 2013) 3
  5. Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFI+ inhibitors in patients with rheumatoid arthritis. (PMID: 22569225) Krintel S.B. … Hetland M.L. (Pharmacogenet. Genomics 2012) 3

Products for CNTNAP4 Gene

Sources for CNTNAP4 Gene

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