Human Gene CNTN2 (ENST00000331830.7_9) from GENCODE V47lift37
  Description: contactin 2, transcript variant 3 (from RefSeq NR_144350.2)
Gencode Transcript: ENST00000331830.7_9
Gencode Gene: ENSG00000184144.12_16
Transcript (Including UTRs)
   Position: hg19 chr1:205,012,340-205,047,417 Size: 35,078 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr1:205,022,314-205,042,893 Size: 20,580 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:205,012,340-205,047,417)mRNA (may differ from genome)Protein (1040 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -110.90269-0.412 Picture PostScript Text
3' UTR -1665.704524-0.368 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
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
49265 - Fibronectin type III
49299 - PKD domain
51110 - alpha-D-mannose-specific plant lectins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2OM5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q02246
FrontTopSide
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  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).
JD460771 - Sequence 441795 from Patent EP1572962.
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).
JD285349 - Sequence 266373 from Patent EP1572962.
JD305453 - Sequence 286477 from Patent EP1572962.
JD554493 - Sequence 535517 from Patent EP1572962.
JD163309 - Sequence 144333 from Patent EP1572962.
JD403896 - Sequence 384920 from Patent EP1572962.
JD065471 - Sequence 46495 from Patent EP1572962.
JD042771 - Sequence 23795 from Patent EP1572962.
JD380440 - Sequence 361464 from Patent EP1572962.
JD176977 - Sequence 158001 from Patent EP1572962.
JD041505 - Sequence 22529 from Patent EP1572962.
JD562912 - Sequence 543936 from Patent EP1572962.
AK095531 - Homo sapiens cDNA FLJ38212 fis, clone FCBBF1000556.
JD524270 - Sequence 505294 from Patent EP1572962.
JD359406 - Sequence 340430 from Patent EP1572962.
JD237138 - Sequence 218162 from Patent EP1572962.
JD136764 - Sequence 117788 from Patent EP1572962.
JD381683 - Sequence 362707 from Patent EP1572962.
JD302574 - Sequence 283598 from Patent EP1572962.
JD314481 - Sequence 295505 from Patent EP1572962.
JD105150 - Sequence 86174 from Patent EP1572962.
JD507614 - Sequence 488638 from Patent EP1572962.
AB074271 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla10798, full insert sequence.
JD220877 - Sequence 201901 from Patent EP1572962.
JD132585 - Sequence 113609 from Patent EP1572962.
JD418253 - Sequence 399277 from Patent EP1572962.
JD511792 - Sequence 492816 from Patent EP1572962.
JD344967 - Sequence 325991 from Patent EP1572962.
JD168940 - Sequence 149964 from Patent EP1572962.
JD167400 - Sequence 148424 from Patent EP1572962.
JD293663 - Sequence 274687 from Patent EP1572962.
JD317049 - Sequence 298073 from Patent EP1572962.
JD544452 - Sequence 525476 from Patent EP1572962.
JD340219 - Sequence 321243 from Patent EP1572962.
JD482524 - Sequence 463548 from Patent EP1572962.
JD214277 - Sequence 195301 from Patent EP1572962.
JD265417 - Sequence 246441 from Patent EP1572962.
JD450061 - Sequence 431085 from Patent EP1572962.
JD089281 - Sequence 70305 from Patent EP1572962.
JD353357 - Sequence 334381 from Patent EP1572962.
JD269286 - Sequence 250310 from Patent EP1572962.
JD159764 - Sequence 140788 from Patent EP1572962.
JD546480 - Sequence 527504 from Patent EP1572962.
JD393505 - Sequence 374529 from Patent EP1572962.
JD055426 - Sequence 36450 from Patent EP1572962.
JD213712 - Sequence 194736 from Patent EP1572962.
JD214454 - Sequence 195478 from Patent EP1572962.
JD111375 - Sequence 92399 from Patent EP1572962.
JD155632 - Sequence 136656 from Patent EP1572962.
JD180121 - Sequence 161145 from Patent EP1572962.
JD538732 - Sequence 519756 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  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, ENST00000331830.1, ENST00000331830.2, ENST00000331830.3, ENST00000331830.4, ENST00000331830.5, ENST00000331830.6, NR_144350, P78432, Q02246, Q5T054, TAG1, TAX1, uc317ths.1, uc317ths.2
UCSC ID: ENST00000331830.7_9
RefSeq Accession: NM_005076.5
Protein: Q02246 (aka CNTN2_HUMAN or AXO1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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