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Aliases for CNTNAP3 Gene

Aliases for CNTNAP3 Gene

  • Contactin Associated Protein-Like 3 2 3 5
  • Cell Recognition Molecule Caspr3 3 4
  • CASPR3 3 4
  • Cell Recognition Molecule CASPR3 (FLJ14195 2
  • KIAA1714) 2
  • CNTNAP3A 3
  • KIAA1714 4

External Ids for CNTNAP3 Gene

Previous GeneCards Identifiers for CNTNAP3 Gene

  • GC09M039063
  • GC09M038813

Summaries for CNTNAP3 Gene

Entrez Gene Summary for CNTNAP3 Gene

  • The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for CNTNAP3 Gene

CNTNAP3 (Contactin Associated Protein-Like 3) is a Protein Coding gene. Diseases associated with CNTNAP3 include Cyclothymic Disorder. An important paralog of this gene is CNTNAP1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTNAP3 Gene

Genomics for CNTNAP3 Gene

Regulatory Elements for CNTNAP3 Gene

Enhancers for CNTNAP3 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 CNTNAP3 on UCSC Golden Path with GeneCards custom track

Promoters for CNTNAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CNTNAP3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNTNAP3 Gene

Chromosome:
9
Start:
39,070,195 bp from pter
End:
39,288,315 bp from pter
Size:
218,121 bases
Orientation:
Minus strand

Genomic View for CNTNAP3 Gene

Genes around CNTNAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTNAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTNAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTNAP3 Gene

Proteins for CNTNAP3 Gene

  • Protein details for CNTNAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZ76-CNTP3_HUMAN
    Recommended name:
    Contactin-associated protein-like 3
    Protein Accession:
    Q9BZ76
    Secondary Accessions:
    • B1AMA0
    • Q9C0E9

    Protein attributes for CNTNAP3 Gene

    Size:
    1288 amino acids
    Molecular mass:
    140690 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21805.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CNTNAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTNAP3 Gene

Proteomics data for CNTNAP3 Gene at MOPED

Post-translational modifications for CNTNAP3 Gene

  • Glycosylation at Asn 285, Asn 359, Asn 441, Asn 497, Asn 623, Asn 706, Asn 1023, Asn 1073, and Asn 1120
  • Modification sites at PhosphoSitePlus

Other Protein References for CNTNAP3 Gene

No data available for DME Specific Peptides for CNTNAP3 Gene

Domains & Families for CNTNAP3 Gene

Suggested Antigen Peptide Sequences for CNTNAP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZ76

UniProtKB/Swiss-Prot:

CNTP3_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 CNTNAP3: view

No data available for Gene Families for CNTNAP3 Gene

Function for CNTNAP3 Gene

Phenotypes for CNTNAP3 Gene

GenomeRNAi human phenotypes for CNTNAP3:
genes like me logo Genes that share phenotypes with CNTNAP3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CNTNAP3

CRISPR Products

miRNA for CNTNAP3 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNTNAP3 Gene

Localization for CNTNAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTNAP3 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTNAP3 Gene COMPARTMENTS Subcellular localization image for CNTNAP3 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNTNAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 12093160
genes like me logo Genes that share ontologies with CNTNAP3: view

Pathways & Interactions for CNTNAP3 Gene

SuperPathways for CNTNAP3 Gene

No Data Available

Interacting Proteins for CNTNAP3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000297668%0d%0a9606.ENSP00000265381%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000297668 Q9BZ76-CNTP3_HUMAN for CNTNAP3 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CNTNAP3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CNTNAP3 Gene

Drugs & Compounds for CNTNAP3 Gene

No Compound Related Data Available

Transcripts for CNTNAP3 Gene

Unigene Clusters for CNTNAP3 Gene

Contactin associated protein-like 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNTNAP3 Gene

No ASD Table

Relevant External Links for CNTNAP3 Gene

GeneLoc Exon Structure for
CNTNAP3
ECgene alternative splicing isoforms for
CNTNAP3

Expression for CNTNAP3 Gene

mRNA expression in normal human tissues for CNTNAP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNTNAP3 Gene

This gene is overexpressed in Whole Blood (x8.0) and Esophagus - Muscularis (x5.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CNTNAP3 Gene



SOURCE GeneReport for Unigene cluster for CNTNAP3 Gene Hs.128474

genes like me logo Genes that share expression patterns with CNTNAP3: view

Primer Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CNTNAP3 Gene

Orthologs for CNTNAP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNTNAP3 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Cntnap3 35
  • 78.49 (n)
  • 74.28 (a)
Cntnap3 16
Cntnap3 36
  • 74 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CNTNAP3 35
  • 99.09 (n)
  • 98.91 (a)
CNTNAP3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 47 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii cntnap2a 36
  • 47 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToMany
Species with no ortholog for CNTNAP3:
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CNTNAP3 Gene

ENSEMBL:
Gene Tree for CNTNAP3 (if available)
TreeFam:
Gene Tree for CNTNAP3 (if available)

Paralogs for CNTNAP3 Gene

Paralogs for CNTNAP3 Gene

genes like me logo Genes that share paralogs with CNTNAP3: view

Variants for CNTNAP3 Gene

Sequence variations from dbSNP and Humsavar for CNTNAP3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1758272 - 39,133,130(+) CGCGG(A/C)GTCTG intron-variant, nc-transcript-variant, reference, missense
rs7852039 - 39,103,746(+) TACCA(C/T)GCAGC nc-transcript-variant, reference, missense
rs914580 -- 39,143,904(+) TAAAA(G/T)TATGG intron-variant
rs914585 -- 39,145,820(+) GGCAG(C/T)TGGAG intron-variant
rs914589 -- 39,173,850(+) TGTCT(A/G)TTGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNTNAP3 Gene

Variant ID Type Subtype PubMed ID
dgv2316e1 CNV Complex 17122850
dgv2317e1 CNV Complex 17122850
nsv519835 CNV Gain 19592680
nsv820048 CNV Loss 19587683
dgv8171n71 CNV Gain 21882294
nsv831553 CNV Gain+Loss 17160897
dgv8172n71 CNV Gain 21882294
nsv893079 CNV Gain+Loss 21882294
nsv893080 CNV Gain 21882294
nsv515139 CNV Gain 21397061
nsv893081 CNV Loss 21882294
dgv2320e1 CNV Complex 17122850
dgv2321e1 CNV Complex 17122850
dgv2322e1 CNV Complex 17122850
dgv8173n71 CNV Gain 21882294
nsv893084 CNV Gain 21882294
nsv520007 CNV Gain+Loss 19592680
nsv818702 CNV Gain 17921354
dgv1217n67 CNV Gain 20364138
dgv8174n71 CNV Loss 21882294
nsv893088 CNV Loss 21882294
nsv893089 CNV Loss 21882294
nsv8450 CNV Gain+Loss 18304495
nsv471466 CNV Duplication 19718026
nsv831554 CNV Gain 17160897
esv2738444 CNV Deletion 23290073
nsv415608 CNV Loss 16902084
nsv893090 CNV Gain 21882294
nsv469512 CNV Gain 16826518
nsv893091 CNV Gain 21882294
esv29529 CNV Gain+Loss 19812545
nsv893092 CNV Gain 21882294
nsv893093 CNV Gain+Loss 21882294
nsv831555 CNV Gain 17160897
esv2665475 CNV Deletion 23128226
dgv2324e1 CNV Complex 17122850
nsv469801 CNV Gain 16826518
nsv469632 CNV Complex 16826518
nsv893094 CNV Gain 21882294
essv367 CNV CNV 17122850
nsv893095 CNV Loss 21882294

Variation tolerance for CNTNAP3 Gene

Gene Damage Index Score: 8.07; 84.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNTNAP3 Gene

Human Gene Mutation Database (HGMD)
CNTNAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTNAP3 Gene

Disorders for CNTNAP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNTNAP3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cyclothymic disorder
  • affective personality disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CNTNAP3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTNAP3
genes like me logo Genes that share disorders with CNTNAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNTNAP3 Gene

Publications for CNTNAP3 Gene

  1. 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 4 67
  2. CNTNAP3 associated ATG16L1 expression and Crohn's disease. (PMID: 25883416) Qiao Y.Q. … Shen J. (Mediators Inflamm. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Genomic screening of testicular germ cell tumors from monozygotic twins. (PMID: 25424124) Silveira S.M. … Rogatto S.R. (Orphanet J Rare Dis 2014) 3
  5. Identification of susceptibility loci at 7q31 and 9p13 for bipolar disorder in an isolated population. (PMID: 19851985) Palo O.M. … Peltonen L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 23

Products for CNTNAP3 Gene

Sources for CNTNAP3 Gene

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