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-t... See more...

Aliases for CNTNAP5 Gene

Aliases for CNTNAP5 Gene

  • Contactin Associated Protein Family Member 5 2 3
  • Contactin-Associated Protein-Like 5 3 4
  • Contactin Associated Protein Like 5 3 5
  • Cell Recognition Molecule Caspr5 3 4
  • Contactin Associated Protein-Like 5 2
  • Caspr5 3
  • CASPR5 4

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 Family Member 5) is a Protein Coding gene. Diseases associated with CNTNAP5 include Posterior Cortical Atrophy and Dyslexia. An important paralog of this gene is CNTNAP4.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for CNTNAP5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTNAP5 Gene

Genomics for CNTNAP5 Gene

GeneHancer (GH) Regulatory Elements for CNTNAP5 Gene

Promoters and enhancers for CNTNAP5 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
GH02J124025 Promoter 1.6 EPDnew Ensembl CraniofacialAtlas 500.7 -0.3 -274 0.8 REST ZBTB26 ZSCAN9 MIER1 KMT2B HDAC2 SMC3 MXI1 PTBP1 POLR2A CNTNAP5 ENSG00000228400 lnc-NIFK-5
GH02J124046 Enhancer 0.7 Ensembl ENCODE 0.4 +20.9 20930 0.8 USF1 HDAC2 NANOG TCF12 EP300 SP1 POU5F1 POLR2A CNTNAP5 piR-55948-052
GH02J124047 Enhancer 0.4 Ensembl 0.4 +22.4 22414 1.4 EP300 NFE2 POLR2A CNTNAP5 piR-55948-052
GH02J124079 Enhancer 0.5 ENCODE 0.2 +55.7 55682 2.3 ZNF316 MAFF FOS MAFK NFE2 MAFG PKNOX1 EMSY piR-55948-052 CNTNAP5
GH02J124038 Enhancer 0.3 Ensembl 0.4 +14.1 14114 0.4 TEAD4 CNTNAP5 piR-55948-052
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNTNAP5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTNAP5

Top Transcription factor binding sites by QIAGEN in the CNTNAP5 gene promoter:
  • Brachyury
  • FOXD3
  • FOXI1
  • HFH-3
  • HNF-1
  • HNF-1A
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CNTNAP5 Gene

Genomic Locations for CNTNAP5 Gene
chr2:124,025,287-124,921,201
(GRCh38/hg38)
Size:
895,915 bases
Orientation:
Plus strand
chr2:124,782,864-125,672,864
(GRCh37/hg19)
Size:
890,001 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 Asn282, Asn355, Asn496, Asn571, and Asn622
  • 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

Gene Families for CNTNAP5 Gene

Protein Domains for CNTNAP5 Gene

Blocks:
  • Coagulation factor 5/8 type C domain (FA58C)
  • Laminin G
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNTNAP5 Gene

GenScript: Design optimal peptide antigens:
  • Cell recognition molecule Caspr5 (CNTP5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WYK1

UniProtKB/Swiss-Prot:

CNTP5_HUMAN :
  • Belongs to the neurexin family.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with CNTNAP5: view

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.

Phenotypes From GWAS Catalog for CNTNAP5 Gene

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

Clone 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
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 CNTNAP5 gene
Compartment Confidence
plasma membrane 3
peroxisome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

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

PathCards logo

SuperPathways for CNTNAP5 Gene

No Data Available

Interacting Proteins for CNTNAP5 Gene

;

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

Drugs & Compounds for CNTNAP5 Gene

No Compound Related Data Available

Transcripts for CNTNAP5 Gene

mRNA/cDNA for CNTNAP5 Gene

3 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for CNTNAP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNTNAP5

SOURCE GeneReport for Unigene cluster for CNTNAP5 Gene:

Hs.660653

Evidence on tissue expression from TISSUES for CNTNAP5 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with CNTNAP5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CNTNAP5 31 30
  • 90.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CNTNAP5 31 30
  • 88.43 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cntnap5a 17 31 30
  • 84.25 (n)
Cntnap5c 31
  • 83 (a)
OneToMany
Cntnap5b 31
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CNTNAP5 31
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntnap5a 30
  • 82.81 (n)
oppossum
(Monodelphis domestica)
Mammalia CASPR5 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNTNAP5 31 30
  • 75.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNTNAP5 31
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC569185 30
  • 61.58 (n)
cntnap5b 31
  • 57 (a)
OneToMany
cntnap5a 31
  • 56 (a)
OneToMany
CNTNAP5 31
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nlr-1 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CNTNAP5: view image

Paralogs for CNTNAP5 Gene

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

  • CNTP5_HUMAN
genes like me logo Genes that share paralogs with CNTNAP5: view

Variants for CNTNAP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTNAP5 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
710313 Benign: not provided 124,747,395(+) A/C INTRON_VARIANT
710619 Likely Benign: not provided 124,242,303(+) C/T SYNONYMOUS_VARIANT
712361 Likely Benign: not provided 124,914,258(+) G/A SYNONYMOUS_VARIANT
714037 Benign: not provided 124,790,146(+) C/G INTRON_VARIANT
716759 Likely Benign: not provided 124,747,229(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CNTNAP5 Gene

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)

Additional Variant Information 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

(3) MalaCards diseases for CNTNAP5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
posterior cortical atrophy
  • pca
dyslexia
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CNTNAP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JL … van den Oord EJ (Molecular psychiatry 2011) 3 41 54
  2. 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 41 54
  3. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber MJ … Krauss RM (PloS one 2010) 3 41 54
  4. A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample. (PMID: 20451256) Djurovic S … Andreassen OA (Journal of affective disorders 2010) 3 41 54
  5. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. (PMID: 20346443) Pagnamenta AT … International Molecular Genetic Study Of Autism Consortium (Biological psychiatry 2010) 3 41 54

Products for CNTNAP5 Gene

Sources for CNTNAP5 Gene