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Aliases for CNTN6 Gene

Aliases for CNTN6 Gene

  • Contactin 6 2 3
  • Neural Recognition Molecule NB-3 3 4
  • Neural Adhesion Molecule 2 3
  • HNB-3 4
  • NB3 3

External Ids for CNTN6 Gene

Previous GeneCards Identifiers for CNTN6 Gene

  • GC03P001109

Summaries for CNTN6 Gene

Entrez Gene Summary for CNTN6 Gene

  • The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for CNTN6 Gene

CNTN6 (Contactin 6) is a Protein Coding gene. Diseases associated with CNTN6 include masa syndrome and autonomic nervous system neoplasm. Among its related pathways are Developmental Biology and L1CAM interactions. An important paralog of this gene is PRTG.

UniProtKB/Swiss-Prot for CNTN6 Gene

  • Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Involved in motor coordination (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTN6 Gene

Genomics for CNTN6 Gene

Regulatory Elements for CNTN6 Gene

Genomic Location for CNTN6 Gene

Chromosome:
3
Start:
1,008,135 bp from pter
End:
1,404,217 bp from pter
Size:
396,083 bases
Orientation:
Plus strand

Genomic View for CNTN6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNTN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTN6 Gene

Proteins for CNTN6 Gene

  • Protein details for CNTN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ52-CNTN6_HUMAN
    Recommended name:
    Contactin-6
    Protein Accession:
    Q9UQ52
    Secondary Accessions:
    • Q2KHM2

    Protein attributes for CNTN6 Gene

    Size:
    1028 amino acids
    Molecular mass:
    113956 Da
    Quaternary structure:
    • Interacts with PTPRG.

neXtProt entry for CNTN6 Gene

Proteomics data for CNTN6 Gene at MOPED

Post-translational modifications for CNTN6 Gene

  • Glycosylation at Asn 65, Asn 193, Asn 368, Asn 377, Asn 468, Asn 659, Asn 765, Asn 860, Asn 865, Asn 895, Asn 931, Asn 956, and Asn 957
  • Modification sites at PhosphoSitePlus

Other Protein References for CNTN6 Gene

Antibody Products

No data available for DME Specific Peptides for CNTN6 Gene

Domains & Families for CNTN6 Gene

Protein Domains for CNTN6 Gene

Suggested Antigen Peptide Sequences for CNTN6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UQ52

UniProtKB/Swiss-Prot:

CNTN6_HUMAN :
  • Contains 4 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. Contactin family.
Domain:
  • Contains 4 fibronectin type-III domains.
  • Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. Contactin family.
genes like me logo Genes that share domains with CNTN6: view

Function for CNTN6 Gene

Molecular function for CNTN6 Gene

UniProtKB/Swiss-Prot Function:
Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Involved in motor coordination (By similarity).

Gene Ontology (GO) - Molecular Function for CNTN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CNTN6: view

Phenotypes for CNTN6 Gene

genes like me logo Genes that share phenotypes with CNTN6: view

Animal Models for CNTN6 Gene

MGI Knock Outs for CNTN6:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CNTN6

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CNTN6 Gene

Localization for CNTN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTN6 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTN6 Gene COMPARTMENTS Subcellular localization image for CNTN6 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CNTN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with CNTN6: view

Pathways & Interactions for CNTN6 Gene

genes like me logo Genes that share pathways with CNTN6: view

Pathways by source for CNTN6 Gene

1 BioSystems pathway for CNTN6 Gene
1 R&D Systems pathway for CNTN6 Gene

SIGNOR curated interactions for CNTN6 Gene

Activates:

Gene Ontology (GO) - Biological Process for CNTN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0007411 axon guidance TAS --
GO:0007417 central nervous system development TAS 9486763
genes like me logo Genes that share ontologies with CNTN6: view

Drugs & Compounds for CNTN6 Gene

No Compound Related Data Available

Transcripts for CNTN6 Gene

Unigene Clusters for CNTN6 Gene

Contactin 6:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CNTN6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNTN6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6
SP1: -
SP2: - - - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for CNTN6 Gene

GeneLoc Exon Structure for
CNTN6
ECgene alternative splicing isoforms for
CNTN6

Expression for CNTN6 Gene

mRNA expression in normal human tissues for CNTN6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNTN6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x12.0), Brain - Cerebellum (x9.3), and Brain - Anterior cingulate cortex (BA24) (x4.6).

Protein differential expression in normal tissues from HIPED for CNTN6 Gene

This gene is overexpressed in Heart (27.2), Fetal Brain (23.3), and Fetal ovary (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CNTN6 Gene



SOURCE GeneReport for Unigene cluster for CNTN6 Gene Hs.387300

mRNA Expression by UniProt/SwissProt for CNTN6 Gene

Q9UQ52-CNTN6_HUMAN
Tissue specificity: Expressed in nervous system. Highly expressed in cerebellum. Expressed at intermediate level in thalamus, subthalamic nucleus. Weakly expressed in corpus callosum, caudate nucleus and spinal cord
genes like me logo Genes that share expression patterns with CNTN6: view

Protein tissue co-expression partners for CNTN6 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CNTN6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNTN6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CNTN6 35
  • 90.22 (n)
  • 91.27 (a)
CNTN6 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNTN6 35
  • 91.78 (n)
  • 92.69 (a)
CNTN6 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntn6 35
  • 86.78 (n)
  • 89.47 (a)
Cntn6 16
Cntn6 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNTN6 35
  • 99.42 (n)
  • 99.32 (a)
CNTN6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntn6 35
  • 86.61 (n)
  • 89.96 (a)
oppossum
(Monodelphis domestica)
Mammalia CNTN6 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
ManyToMany
-- 36
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CNTN6 35
  • 73.99 (n)
  • 75.96 (a)
CNTN6 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNTN6 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cont 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea C33F10.5a 37
  • 24 (a)
C33F10.5b 37
  • 25 (a)
Species with no ortholog for CNTN6:
  • 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for CNTN6 Gene

ENSEMBL:
Gene Tree for CNTN6 (if available)
TreeFam:
Gene Tree for CNTN6 (if available)

Paralogs for CNTN6 Gene

(8) SIMAP similar genes for CNTN6 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CNTN6: view

Variants for CNTN6 Gene

Sequence variations from dbSNP and Humsavar for CNTN6 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1846484 -- 1,349,633(+) TCAGT(A/G)CCATT intron-variant
rs1846466 -- 1,151,145(-) TACCA(A/C)AAATG intron-variant
rs1846465 -- 1,213,023(-) TTTTT(C/T)TAAGT intron-variant
rs1846464 -- 1,216,594(+) ATATA(C/T)GACAT intron-variant
rs1844380 -- 1,214,138(+) ccatt(A/G)ttcct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNTN6 Gene

Variant ID Type Subtype PubMed ID
nsv526340 CNV Loss 19592680
nsv876284 CNV Loss 21882294
nsv876296 CNV Gain 21882294
dgv268n21 CNV Gain 19592680
nsv876302 CNV Gain 21882294
nsv527267 CNV Gain 19592680
nsv517343 CNV Gain+Loss 19592680
dgv5074n71 CNV Gain 21882294
nsv876311 CNV Gain 21882294
esv2664438 CNV Deletion 23128226
esv33501 CNV Gain 17666407
esv2422404 CNV Duplication 17116639
esv2422485 CNV Duplication 17116639
dgv5078n71 CNV Gain 21882294
nsv876319 CNV Loss 21882294
nsv876320 CNV Gain 21882294
nsv876321 CNV Loss 21882294
nsv460311 CNV Gain 19166990
esv2670366 CNV Deletion 23128226
nsv876322 CNV Gain 21882294
nsv460312 CNV Gain 19166990
nsv876323 CNV Loss 21882294
nsv460313 CNV Gain 19166990
nsv876324 CNV Gain 21882294
esv2662624 CNV Deletion 23128226
nsv876325 CNV Loss 21882294
nsv834593 CNV Loss 17160897
nsv527266 CNV Gain 19592680
nsv876326 CNV Gain 21882294
esv2724770 CNV Deletion 23290073
nsv876327 CNV Gain 21882294
nsv876328 CNV Gain 21882294
essv22021 CNV CNV 17122850
esv675 CNV CNV 17122850
esv34599 CNV Gain 17911159
essv21142 CNV CNV 17122850
nsv834594 CNV Loss 17160897
nsv876329 CNV Gain 21882294
nsv876330 CNV Loss 21882294
esv1669273 CNV Deletion 17803354
nsv876331 CNV Gain 21882294
nsv876332 CNV Gain 21882294
nsv10242 CNV Loss 18304495
nsv876333 CNV Loss 21882294
nsv470660 CNV Loss 18288195
nsv10243 CNV Loss 18304495
nsv237313 CNV Loss 16902084
nsv876334 CNV Gain 21882294
nsv876335 CNV Gain 21882294
essv13365 CNV CNV 17122850
essv13232 CNV CNV 17122850
esv2484315 CNV Deletion 19546169
esv2179526 CNV Deletion 18987734
esv2614118 CNV Loss 19546169
esv2656847 CNV Deletion 23128226
esv27779 CNV Loss 19812545
nsv460315 CNV Gain 19166990
nsv876336 CNV Loss 21882294
nsv834595 CNV Loss 17160897
essv7266 CNV CNV 17122850
nsv876337 CNV Loss 21882294
nsv876338 CNV Gain 21882294

Variation tolerance for CNTN6 Gene

Residual Variation Intolerance Score: 12.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNTN6 Gene

HapMap Linkage Disequilibrium report
CNTN6
Human Gene Mutation Database (HGMD)
CNTN6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTN6 Gene

Disorders for CNTN6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CNTN6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
masa syndrome
  • crash syndrome
autonomic nervous system neoplasm
  • tumor of autonomic nervous system
peripheral nervous system neoplasm
  • neoplasm of peripheral nerve
- elite association
Search CNTN6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CNTN6

Genetic Association Database (GAD)
CNTN6
Human Genome Epidemiology (HuGE) Navigator
CNTN6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTN6
genes like me logo Genes that share disorders with CNTN6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNTN6 Gene

Publications for CNTN6 Gene

  1. cDNA cloning and chromosomal localization of neural adhesion molecule, NB-3 in human. (PMID: 9486763) Kamei Y. … Watanabe K. (J. Neurosci. Res. 1998) 2 23 67
  2. Contactins: emerging key roles in the development and function of the nervous system. (PMID: 19262165) Shimoda Y. … Watanabe K. (Cell Adh Migr 2009) 23 67
  3. Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer. (PMID: 19509545) Manderson E.N. … Tonin P.N. (Int. J. Gynecol. Cancer 2009) 23 67
  4. Morphological and functional characterization of predifferentiation of myelinating glia-like cells from human bone marrow stromal cells through activation of F3/Notch signaling in mouse retina. (PMID: 17975227) Lu L. … Xiao Z.C. (Stem Cells 2008) 23 67
  5. Cross-talk between F3/contactin and Notch at axoglial interface: a role in oligodendrocyte development. (PMID: 16508301) Hu Q.D. … Xiao Z.C. (Dev. Neurosci. 2006) 23 67

Products for CNTN6 Gene

Sources for CNTN6 Gene

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