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Aliases for CNTNAP5 Gene

Aliases for CNTNAP5 Gene

  • Contactin Associated Protein Like 5 2 3 5
  • Cell Recognition Molecule Caspr5 3 4
  • Caspr5 3 4
  • Contactin Associated Protein-Like 5 2
  • Contactin-Associated Protein-Like 5 3

External Ids for CNTNAP5 Gene

Previous GeneCards Identifiers for CNTNAP5 Gene

  • GC02P124879
  • GC02P124499
  • GC02P117103

Summaries for CNTNAP5 Gene

Entrez Gene Summary for CNTNAP5 Gene

  • This gene product belongs to the neurexin family, members of which function 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, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]

GeneCards Summary for CNTNAP5 Gene

CNTNAP5 (Contactin Associated Protein Like 5) is a Protein Coding gene. Diseases associated with CNTNAP5 include Mowat-Wilson Syndrome. An important paralog of this gene is CNTNAP4.

UniProtKB/Swiss-Prot for CNTNAP5 Gene

  • May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTNAP5 Gene

Genomics for CNTNAP5 Gene

Regulatory Elements for CNTNAP5 Gene


Promoters for CNTNAP5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001826896 -87 401 ZNF792 SUZ12 MIER1 MIER2 REST ZNF48 ZSCAN9 E2F1 ZGPAT GABPB1

Genomic Location for CNTNAP5 Gene

Chromosome:
2
Start:
124,025,287 bp from pter
End:
124,921,201 bp from pter
Size:
895,915 bases
Orientation:
Plus strand

Genomic View for CNTNAP5 Gene

Genes around CNTNAP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTNAP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTNAP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTNAP5 Gene

Proteins for CNTNAP5 Gene

  • Protein details for CNTNAP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYK1-CNTP5_HUMAN
    Recommended name:
    Contactin-associated protein-like 5
    Protein Accession:
    Q8WYK1
    Secondary Accessions:
    • Q4ZFW2
    • Q4ZG21
    • Q53R09
    • Q53RX1
    • Q53SG3
    • Q584P3
    • Q96MS7

    Protein attributes for CNTNAP5 Gene

    Size:
    1306 amino acids
    Molecular mass:
    145623 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CNTNAP5 Gene

Post-translational modifications for CNTNAP5 Gene

  • Glycosylation at Asn 282, Asn 355, Asn 496, Asn 571, and Asn 622
  • Modification sites at PhosphoSitePlus

Other Protein References for CNTNAP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNTNAP5 Gene

Domains & Families for CNTNAP5 Gene

Suggested Antigen Peptide Sequences for CNTNAP5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WYK1

UniProtKB/Swiss-Prot:

CNTP5_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 CNTNAP5: view

No data available for Gene Families for CNTNAP5 Gene

Function for CNTNAP5 Gene

Molecular function for CNTNAP5 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication.
genes like me logo Genes that share phenotypes with CNTNAP5: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNTNAP5 Gene

Localization for CNTNAP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTNAP5 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTNAP5 Gene COMPARTMENTS Subcellular localization image for CNTNAP5 gene
Compartment Confidence
plasma membrane 3
peroxisome 2
cytosol 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CNTNAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CNTNAP5: view

Pathways & Interactions for CNTNAP5 Gene

SuperPathways for CNTNAP5 Gene

No Data Available

Interacting Proteins for CNTNAP5 Gene

Selected Interacting proteins: Q8WYK1-CNTP5_HUMAN for CNTNAP5 Gene via IID

Gene Ontology (GO) - Biological Process for CNTNAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with CNTNAP5: view

No data available for Pathways by source and SIGNOR curated interactions for CNTNAP5 Gene

Transcripts for CNTNAP5 Gene

mRNA/cDNA for CNTNAP5 Gene

(4) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CNTNAP5 Gene

Contactin associated protein-like 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNTNAP5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1:
SP2:

Relevant External Links for CNTNAP5 Gene

GeneLoc Exon Structure for
CNTNAP5
ECgene alternative splicing isoforms for
CNTNAP5

Expression for CNTNAP5 Gene

mRNA expression in normal human tissues for CNTNAP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNTNAP5 Gene

This gene is overexpressed in Brain - Cortex (x6.6), Brain - Frontal Cortex (BA9) (x6.3), Brain - Anterior cingulate cortex (BA24) (x6.1), Brain - Hypothalamus (x5.6), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for CNTNAP5 Gene

This gene is overexpressed in Fetal Brain (31.7) and Frontal cortex (28.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNTNAP5 Gene



Protein tissue co-expression partners for CNTNAP5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNTNAP5 Gene:

CNTNAP5

SOURCE GeneReport for Unigene cluster for CNTNAP5 Gene:

Hs.660653
genes like me logo Genes that share expression patterns with CNTNAP5: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CNTNAP5 Gene

Orthologs for CNTNAP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNTNAP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNTNAP5 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia CNTNAP5 34 35
  • 90.55 (n)
cow
(Bos Taurus)
Mammalia CNTNAP5 34 35
  • 88.43 (n)
mouse
(Mus musculus)
Mammalia Cntnap5a 34 16 35
  • 84.25 (n)
Cntnap5c 35
  • 83 (a)
OneToMany
Cntnap5b 35
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CNTNAP5 35
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntnap5a 34
  • 82.81 (n)
oppossum
(Monodelphis domestica)
Mammalia CASPR5 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNTNAP5 34 35
  • 75.65 (n)
lizard
(Anolis carolinensis)
Reptilia CNTNAP5 35
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC569185 34
  • 61.58 (n)
cntnap5b 35
  • 57 (a)
OneToMany
cntnap5a 35
  • 56 (a)
OneToMany
CNTNAP5 35
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nlr-1 34
  • 40.77 (n)
Species where no ortholog for CNTNAP5 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CNTNAP5 Gene

ENSEMBL:
Gene Tree for CNTNAP5 (if available)
TreeFam:
Gene Tree for CNTNAP5 (if available)

Paralogs for CNTNAP5 Gene

(7) SIMAP similar genes for CNTNAP5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CNTNAP5: view

Variants for CNTNAP5 Gene

Sequence variations from dbSNP and Humsavar for CNTNAP5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10084191 -- 124,771,087(+) AATGC(A/G)GACTT intron-variant
rs10084271 -- 124,461,420(+) actat(C/T)gcaag intron-variant
rs10084356 -- 124,631,304(+) gtatc(A/G)tgcta intron-variant
rs10084437 -- 124,756,256(+) AAGCC(A/G)TGAAA intron-variant
rs10091881 -- 124,260,175(+) gtata(C/G)accaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNTNAP5 Gene

Variant ID Type Subtype PubMed ID
dgv62n68 CNV gain 17160897
esv1132457 CNV insertion 17803354
esv1460286 CNV insertion 17803354
esv1473492 CNV insertion 17803354
esv1651761 CNV deletion 17803354
esv1751956 CNV deletion 17803354
esv2152580 CNV deletion 18987734
esv21989 CNV loss 19812545
esv2401454 CNV deletion 18987734
esv2413609 CNV deletion 18987734
esv2421661 CNV deletion 20811451
esv2514577 CNV deletion 19546169
esv25452 CNV loss 19812545
esv2660051 CNV deletion 23128226
esv2667022 CNV deletion 23128226
esv2669295 CNV deletion 23128226
esv2675025 CNV deletion 23128226
esv2720689 CNV deletion 23290073
esv2720690 CNV deletion 23290073
esv2720691 CNV deletion 23290073
esv2720692 CNV deletion 23290073
esv2720693 CNV deletion 23290073
esv2720694 CNV deletion 23290073
esv27405 CNV loss 19812545
esv2760625 CNV loss 21179565
esv2762279 CNV gain 21179565
esv2864569 CNV insertion 24192839
esv28944 CNV loss 19812545
esv3302851 CNV tandem duplication 20981092
esv3306724 CNV mobile element insertion 20981092
esv3336826 CNV insertion 20981092
esv3357001 CNV insertion 20981092
esv3364729 CNV insertion 20981092
esv3584048 CNV loss 25503493
esv3584050 CNV loss 25503493
esv3584051 CNV loss 25503493
esv3592273 CNV gain 21293372
esv3592274 CNV loss 21293372
esv3592276 CNV loss 21293372
esv3592277 CNV loss 21293372
esv3592278 CNV loss 21293372
esv3592280 CNV loss 21293372
esv3592283 CNV loss 21293372
esv3592284 CNV gain 21293372
esv3592288 CNV loss 21293372
esv3592289 CNV loss 21293372
esv3592290 CNV loss 21293372
esv3893270 CNV loss 25118596
esv3893281 CNV loss 25118596
nsv1014610 CNV loss 25217958
nsv1078313 OTHER inversion 25765185
nsv1123380 CNV deletion 24896259
nsv1126150 CNV deletion 24896259
nsv1129399 OTHER inversion 24896259
nsv1136404 CNV deletion 24896259
nsv1136405 CNV deletion 24896259
nsv1153737 OTHER inversion 26484159
nsv1160851 CNV duplication 26073780
nsv214662 CNV insertion 16902084
nsv214838 CNV deletion 16902084
nsv2902 CNV insertion 18451855
nsv441780 CNV loss 18776908
nsv474510 CNV novel sequence insertion 20440878
nsv475795 CNV novel sequence insertion 20440878
nsv476366 CNV novel sequence insertion 20440878
nsv477600 CNV novel sequence insertion 20440878
nsv513642 OTHER inversion 21212237
nsv514089 CNV loss 21397061
nsv518449 CNV loss 19592680
nsv520468 CNV loss 19592680
nsv523244 CNV gain 19592680
nsv523624 CNV loss 19592680
nsv528674 CNV loss 19592680
nsv582883 CNV loss 21841781
nsv819837 CNV gain 19587683
nsv834357 CNV gain 17160897
nsv834359 CNV gain 17160897
nsv834360 CNV gain 17160897
nsv834361 CNV gain 17160897
nsv961506 CNV duplication 23825009
nsv979363 CNV deletion 23825009

Variation tolerance for CNTNAP5 Gene

Residual Variation Intolerance Score: 8.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.84; 58.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNTNAP5 Gene

Human Gene Mutation Database (HGMD)
CNTNAP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTNAP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTNAP5 Gene

Disorders for CNTNAP5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNTNAP5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mowat-wilson syndrome
  • hirschsprung disease mental retardation syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CNTNAP5

Genetic Association Database (GAD)
CNTNAP5
Human Genome Epidemiology (HuGE) Navigator
CNTNAP5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTNAP5
genes like me logo Genes that share disorders with CNTNAP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNTNAP5 Gene

Publications for CNTNAP5 Gene

  1. Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics. (PMID: 19721433) McClay J.L. … van den Oord E.J. (Mol. Psychiatry 2011) 3 46 64
  2. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber M.J. … Krauss R.M. (PLoS ONE 2010) 3 46 64
  3. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. (PMID: 20346443) Pagnamenta A.T. … Monaco A.P. (Biol. Psychiatry 2010) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample. (PMID: 20451256) Djurovic S. … Andreassen O.A. (J Affect Disord 2010) 3 46 64

Products for CNTNAP5 Gene

Sources for CNTNAP5 Gene

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