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Aliases for CNTNAP4 Gene

Aliases for CNTNAP4 Gene

  • Contactin Associated Protein Like 4 2 3 5
  • Cell Recognition Molecule Caspr4 3 4
  • CASPR4 3 4
  • Contactin Associated Protein-Like 4 2
  • Contactin-Associated Protein-Like 4 3
  • 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 CNTNAP3.

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

Additional gene information for CNTNAP4 Gene

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

Genomics for CNTNAP4 Gene

GeneHancer (GH) Regulatory Elements for CNTNAP4 Gene

Promoters and enhancers for CNTNAP4 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
GH16I076277 Promoter/Enhancer 0.9 EPDnew ENCODE 550.8 +0.1 121 0.8 MXI1 POLR2A KLF9 CNTNAP4 RN7SKP233
GH16I076309 Promoter 0.6 EPDnew 550.3 +32.6 32555 0.1 POLR2A CNTNAP4 RN7SKP233 GC16P076441
GH16I076279 Enhancer 0.5 ENCODE 550.8 +1.9 1931 0.1 CTCF ATF4 ATF7 CEBPG RAD21 CNTNAP4 RN7SKP233
GH16I076444 Enhancer 0.2 ENCODE 6.1 +167.6 167621 1.1 CNTNAP4 GC16P076441 GC16M076469 ENSG00000252022
GH16I076532 Enhancer 1 FANTOM5 ENCODE 0.1 +255.5 255462 1.3 TFAP4 FOXA2 TAF1 MAX RAD21 YY1 HNF4G CREM HOMEZ MIXL1 ADAT1 ENSG00000261833 ENSG00000252022 GC16M076469 CNTNAP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CNTNAP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNTNAP4 gene promoter:

Genomic Locations for CNTNAP4 Gene

Genomic Locations for CNTNAP4 Gene
chr16:76,277,278-76,560,884
(GRCh38/hg38)
Size:
283,607 bases
Orientation:
Plus strand
chr16:76,311,176-76,593,135
(GRCh37/hg19)

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

Post-translational modifications for CNTNAP4 Gene

  • Glycosylation at posLast=260260, posLast=285285, posLast=359359, posLast=538538, Asn574, posLast=602602, posLast=625625, Asn637, Asn706, Asn748, posLast=10231023, and posLast=10731073
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNTNAP4 Gene

Domains & Families for CNTNAP4 Gene

Gene Families for CNTNAP4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CNTNAP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9C0A0

UniProtKB/Swiss-Prot:

CNTP4_HUMAN :
  • Belongs to the neurexin family.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with CNTNAP4: view

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).

Phenotypes From GWAS Catalog for CNTNAP4 Gene

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

Clone 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
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 CNTNAP4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CNTNAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0030425 dendrite IEA --
GO:0042734 presynaptic membrane ISS --
genes like me logo Genes that share ontologies with CNTNAP4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTNAP4 Gene

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:0007155 cell adhesion IEA --
GO:0032225 regulation of synaptic transmission, dopaminergic ISS --
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CNTNAP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNTNAP4 Gene:

CNTNAP4

SOURCE GeneReport for Unigene cluster for CNTNAP4 Gene:

Hs.461389

Evidence on tissue expression from TISSUES for CNTNAP4 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with CNTNAP4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CNTNAP4 33 34
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia CNTNAP4 33 34
  • 89.7 (n)
cow
(Bos Taurus)
Mammalia CNTNAP4 33 34
  • 87.13 (n)
mouse
(Mus musculus)
Mammalia Cntnap4 33 16 34
  • 84.4 (n)
rat
(Rattus norvegicus)
Mammalia Cntnap4 33
  • 83.74 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CNTNAP4 33
  • 74.14 (n)
-- 34
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cntnap4 33
  • 67.48 (n)
Str.12644 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-122m3.1 33
  • 60.03 (n)
cntnap2b 34
  • 47 (a)
ManyToMany
Species where no ortholog for CNTNAP4 was found in the sources mined by GeneCards:
  • 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

(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 Variation AA Info Type
rs1000005111 -- 76,435,420(+) C/A intron_variant
rs1000009421 -- 76,392,498(+) T/G intron_variant
rs1000010038 -- 76,370,307(+) G/A intron_variant
rs1000014940 -- 76,342,109(+) A/G intron_variant
rs1000022431 -- 76,356,270(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1369n106 CNV deletion 24896259
dgv17e209 CNV deletion 24192839
dgv492n67 CNV loss 20364138
dgv505e199 CNV deletion 23128226
dgv5192n54 CNV gain 21841781
dgv5195n54 CNV loss 21841781
dgv5196n54 CNV loss 21841781
dgv5197n54 CNV loss 21841781
dgv5198n54 CNV loss 21841781
dgv5199n54 CNV gain 21841781
dgv5200n54 CNV gain 21841781
dgv5201n54 CNV loss 21841781
dgv538e214 CNV gain 21293372
dgv60e180 CNV loss 20482838
dgv857e212 CNV loss 25503493
dgv858e212 CNV gain 25503493
esv22369 CNV loss 19812545
esv2422474 CNV deletion 17116639
esv2677501 CNV deletion 23128226
esv2714721 CNV deletion 23290073
esv2714722 CNV deletion 23290073
esv2714723 CNV deletion 23290073
esv2763142 CNV loss 21179565
esv29767 CNV loss 19812545
esv3303228 CNV mobile element insertion 20981092
esv3304479 CNV mobile element insertion 20981092
esv3408174 CNV insertion 20981092
esv3446807 CNV insertion 20981092
esv3553687 CNV deletion 23714750
esv3553688 CNV deletion 23714750
esv3553690 CNV deletion 23714750
esv3639124 CNV loss 21293372
esv3639125 CNV loss 21293372
esv3639126 CNV loss 21293372
esv3892895 CNV gain 25118596
esv4230 CNV loss 18987735
esv8906 CNV loss 19470904
esv990642 CNV deletion 20482838
nsv1059162 CNV gain 25217958
nsv1064607 CNV gain 25217958
nsv1065644 CNV gain 25217958
nsv1071014 CNV deletion 25765185
nsv1117168 CNV tandem duplication 24896259
nsv1883 CNV deletion 18451855
nsv457537 CNV loss 19166990
nsv457538 CNV loss 19166990
nsv511051 OTHER complex 20534489
nsv511568 CNV loss 21212237
nsv512446 CNV loss 21212237
nsv514815 CNV loss 21397061
nsv518437 CNV loss 19592680
nsv518584 CNV loss 19592680
nsv573021 CNV gain 21841781
nsv573022 CNV loss 21841781
nsv573023 CNV loss 21841781
nsv573024 CNV gain 21841781
nsv573027 CNV loss 21841781
nsv573031 CNV loss 21841781
nsv573039 CNV gain+loss 21841781
nsv573040 CNV gain 21841781
nsv573041 CNV gain 21841781
nsv573043 CNV gain 21841781
nsv573045 CNV gain+loss 21841781
nsv573046 CNV loss 21841781
nsv573047 CNV loss 21841781
nsv573049 CNV loss 21841781
nsv819599 CNV loss 19587683
nsv833285 CNV gain 17160897
nsv833286 CNV gain 17160897
nsv833287 CNV gain 17160897
nsv955364 CNV deletion 24416366
nsv955385 CNV deletion 24416366
nsv958816 CNV deletion 24416366

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)

Additional Variant Information for CNTNAP4 Gene

Human Gene Mutation Database (HGMD)
CNTNAP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTNAP4

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

Disorders for CNTNAP4 Gene

Additional Disease Information for CNTNAP4

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

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 … EUROSPAN consortium (PLoS genetics 2012) 3 44 58
  2. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z … Genest J (European journal of human genetics : EJHG 2010) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. (PMID: 18398821) Nordgard SH … Kristensen VN (Genes, chromosomes & cancer 2008) 3 44 58
  5. 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 (Molecular and cellular neurosciences 2002) 2 3 58

Products for CNTNAP4 Gene

Sources for CNTNAP4 Gene

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