Human Gene CNTN2 (ENST00000638378.1) Description and Page Index
  Description: Homo sapiens contactin 2 (CNTN2), transcript variant 2, mRNA. (from RefSeq NM_001346083)
RefSeq Summary (NM_001346083): This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016].
Gencode Transcript: ENST00000638378.1
Gencode Gene: ENSG00000184144.12
Transcript (Including UTRs)
   Position: hg38 chr1:205,042,968-205,074,928 Size: 31,961 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg38 chr1:205,053,186-205,073,765 Size: 20,580 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:205,042,968-205,074,928)mRNA (may differ from genome)Protein (1040 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CNTN2_HUMAN
DESCRIPTION: RecName: Full=Contactin-2; AltName: Full=Axonal glycoprotein TAG-1; AltName: Full=Axonin-1; AltName: Full=Transient axonal glycoprotein 1; Short=TAX-1; Flags: Precursor;
FUNCTION: May play a role in the initial growth and guidance of axons. May be involved in cell adhesion.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Note=Attached to the neuronal membrane by a GPI-anchor and is also released from neurons.
SIMILARITY: Belongs to the immunoglobulin superfamily. Contactin family.
SIMILARITY: Contains 4 fibronectin type-III domains.
SIMILARITY: Contains 6 Ig-like C2-type (immunoglobulin-like) domains.

-  MalaCards Disease Associations
  MalaCards Gene Search: CNTN2
Diseases sorted by gene-association score: epilepsy, myoclonic, familial adult, 5* (1050), benign adult familial myoclonic epilepsy* (247), tropical spastic paraparesis (34), adult t-cell leukemia (25), myelopathy, htlv-1-associated (21), human t-cell leukemia virus type 1 (14), t-cell leukemia (12), demyelinating polyneuropathy (11), van der woude syndrome (10), chronic inflammatory demyelinating polyneuropathy (9), multifocal motor neuropathy (9), tremor (8), human t-cell leukemia virus type 2 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 94.83 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 399.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.00161-0.348 Picture PostScript Text
3' UTR -454.501163-0.391 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00041 - Fibronectin type III domain
PF07679 - Immunoglobulin I-set domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2OM5
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q02246
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030246 carbohydrate binding
GO:0042802 identical protein binding
GO:0043621 protein self-association

Biological Process:
GO:0000226 microtubule cytoskeleton organization
GO:0001764 neuron migration
GO:0007155 cell adhesion
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0007413 axonal fasciculation
GO:0007612 learning
GO:0007628 adult walking behavior
GO:0010769 regulation of cell morphogenesis involved in differentiation
GO:0010954 positive regulation of protein processing
GO:0021853 cerebral cortex GABAergic interneuron migration
GO:0022010 central nervous system myelination
GO:0031133 regulation of axon diameter
GO:0031175 neuron projection development
GO:0031623 receptor internalization
GO:0045163 clustering of voltage-gated potassium channels
GO:0045665 negative regulation of neuron differentiation
GO:0048168 regulation of neuronal synaptic plasticity
GO:0048710 regulation of astrocyte differentiation
GO:0060168 positive regulation of adenosine receptor signaling pathway
GO:0071205 protein localization to juxtaparanode region of axon
GO:0071206 establishment of protein localization to juxtaparanode region of axon
GO:0097090 presynaptic membrane organization

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0030424 axon
GO:0031225 anchored component of membrane
GO:0033268 node of Ranvier
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043209 myelin sheath
GO:0044224 juxtaparanode region of axon
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  CR749495 - Homo sapiens mRNA; cDNA DKFZp781D102 (from clone DKFZp781D102).
X67734 - H.sapiens mRNA for transient axonal glycoprotein (tag-1).
X68274 - Homo sapiens mRNA for TAG-1/axonin-1 precursor (TAG-1 gene).
JD384559 - Sequence 365583 from Patent EP1572962.
JD164675 - Sequence 145699 from Patent EP1572962.
BC129986 - Homo sapiens contactin 2 (axonal), mRNA (cDNA clone MGC:157722 IMAGE:40128240), complete cds.
AK289985 - Homo sapiens cDNA FLJ75250 complete cds, highly similar to Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.
KJ897638 - Synthetic construct Homo sapiens clone ccsbBroadEn_07032 CNTN2 gene, encodes complete protein.
AB384410 - Synthetic construct DNA, clone: pF1KSDB6001, Homo sapiens CNTN2 gene for contactin-2 precursor, complete cds, without stop codon, in Flexi system.
AB587327 - Synthetic construct DNA, clone: pF1KB7012, Homo sapiens CNTN2 gene for contactin 2, without stop codon, in Flexi system.
AK309108 - Homo sapiens cDNA, FLJ99149.
AK124736 - Homo sapiens cDNA FLJ42746 fis, clone BRAWH3000166, highly similar to Contactin-2 precursor.
JD046013 - Sequence 27037 from Patent EP1572962.
JD263813 - Sequence 244837 from Patent EP1572962.
JD532660 - Sequence 513684 from Patent EP1572962.
JD417904 - Sequence 398928 from Patent EP1572962.
JD203221 - Sequence 184245 from Patent EP1572962.
JD318152 - Sequence 299176 from Patent EP1572962.
JD494381 - Sequence 475405 from Patent EP1572962.
JD133206 - Sequence 114230 from Patent EP1572962.
JD052555 - Sequence 33579 from Patent EP1572962.
JD375336 - Sequence 356360 from Patent EP1572962.
JD450200 - Sequence 431224 from Patent EP1572962.
JD053625 - Sequence 34649 from Patent EP1572962.
JD370375 - Sequence 351399 from Patent EP1572962.
JD126545 - Sequence 107569 from Patent EP1572962.
JD130847 - Sequence 111871 from Patent EP1572962.
JD162951 - Sequence 143975 from Patent EP1572962.
JD218925 - Sequence 199949 from Patent EP1572962.
JD221454 - Sequence 202478 from Patent EP1572962.
JD059945 - Sequence 40969 from Patent EP1572962.
JD326442 - Sequence 307466 from Patent EP1572962.
JD415358 - Sequence 396382 from Patent EP1572962.
JD051597 - Sequence 32621 from Patent EP1572962.
JD188970 - Sequence 169994 from Patent EP1572962.
JD099621 - Sequence 80645 from Patent EP1572962.
JD415955 - Sequence 396979 from Patent EP1572962.
JD382352 - Sequence 363376 from Patent EP1572962.
JD525337 - Sequence 506361 from Patent EP1572962.
JD415524 - Sequence 396548 from Patent EP1572962.
JD255230 - Sequence 236254 from Patent EP1572962.
JD491403 - Sequence 472427 from Patent EP1572962.
JD290991 - Sequence 272015 from Patent EP1572962.
BC036477 - Homo sapiens contactin 2 (axonal), mRNA (cDNA clone IMAGE:5260222).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)

Reactome (by CSHL, EBI, and GO)

Protein Q02246 (Reactome details) participates in the following event(s):

R-HSA-374672 Cis-heterodimerization of L1 and Axonin-1
R-HSA-375157 Interaction of NCAM1 with contactin-2
R-HSA-445067 NrCAM binds axonin-1
R-HSA-373760 L1CAM interactions
R-HSA-419037 NCAM1 interactions
R-HSA-447038 NrCAM interactions
R-HSA-422475 Axon guidance
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: AXT, CNTN2_HUMAN, NM_001346083, P78432, Q02246, Q5T054, TAG1, TAX1, uc285hjt.1
UCSC ID: uc285hjt.1
RefSeq Accession: NM_001346083
Protein: Q02246 (aka CNTN2_HUMAN or AXO1_HUMAN)
CCDS: CCDS1449.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.