• Gene id: 6900

Gene Summary

• Gene Symbol: CNTN2   Gene   UCSC   Ensembl
• Aliases: AXT, FAME5, TAG-1, TAX, TAX1
• Gene name: contactin 2
• Alternate names: contactin-2, axonal glycoprotein TAG-1, axonin-1 cell adhesion molecule, contactin 2 (axonal), contactin 2 (transiently expressed), transient axonal glycoprotein 1,
• Gene location: 1q32.1 (205042936: 205078288)     Exons: 25     NC_000001.11
• Gene summary(Entrez): 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, migrati
• OMIM: 190197

Protein Summary

• Protein general information: Q02246  
  • Name: Contactin 2 (Axonal glycoprotein TAG 1) (Axonin 1) (Transient axonal glycoprotein 1) (TAX 1)
  • Length: 1040  
  • Mass: 113393
• Sequence:

  MGTATRRKPHLLLVAAVALVSSSAWSSALGSQTTFGPVFEDQPLSVLFPEESTEEQVLLACRARASPPATYRWKM
  NGTEMKLEPGSRHQLVGGNLVIMNPTKAQDAGVYQCLASNPVGTVVSREAILRFGFLQEFSKEERDPVKAHEGWG
  VMLPCNPPAHYPGLSYRWLLNEFPNFIPTDGRHFVSQTTGNLYIARTNASDLGNYSCLATSHMDFSTKSVFSKFA
  QLNLAAEDTRLFAPSIKARFPAETYALVGQQVTLECFAFGNPVPRIKWRKVDGSLSPQWTTAEPTLQIPSVSFED
  EGTYECEAENSKGRDTVQGRIIVQAQPEWLKVISDTEADIGSNLRWGCAAAGKPRPTVRWLRNGEPLASQNRVEV
  LAGDLRFSKLSLEDSGMYQCVAENKHGTIYASAELAVQALAPDFRLNPVRRLIPAARGGEILIPCQPRAAPKAVV
  LWSKGTEILVNSSRVTVTPDGTLIIRNISRSDEGKYTCFAENFMGKANSTGILSVRDATKITLAPSSADINLGDN
  LTLQCHASHDPTMDLTFTWTLDDFPIDFDKPGGHYRRTNVKETIGDLTILNAQLRHGGKYTCMAQTVVDSASKEA
  TVLVRGPPGPPGGVVVRDIGDTTIQLSWSRGFDNHSPIAKYTLQARTPPAGKWKQVRTNPANIEGNAETAQVLGL
  TPWMDYEFRVIASNILGTGEPSGPSSKIRTREAAPSVAPSGLSGGGGAPGELIVNWTPMSREYQNGDGFGYLLSF
  RRQGSTHWQTARVPGADAQYFVYSNESVRPYTPFEVKIRSYNRRGDGPESLTALVYSAEEEPRVAPTKVWAKGVS
  SSEMNVTWEPVQQDMNGILLGYEIRYWKAGDKEAAADRVRTAGLDTSARVSGLHPNTKYHVTVRAYNRAGTGPAS
  PSANATTMKPPPRRPPGNISWTFSSSSLSIKWDPVVPFRNESAVTGYKMLYQNDLHLTPTLHLTGKNWIEIPVPE
  DIGHALVQIRTTGPGGDGIPAEVHIVRNGGTSMMVENMAVRPAPHPGTVISHSVAMLILIGSLEL

• Structural information:
  • Protein Domains: (43..12-)
    1 (/note="Ig-like-C2-type)
    (133..22-)
    2 (/note="Ig-like-C2-type)
    (239..32-)
    3 (/note="Ig-like-C2-type)
    (327..41-)
    4 (/note="Ig-like-C2-type)
    (417..50-)
    5 (/note="Ig-like-C2-type)
    (509..60-)
    (/note="Ig-lik-)
  • Interpro: IPR032991  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 2OM5
  • PDBsum: 2OM5
  • STRING: ENSP00000330633
• Other Databases: GeneCards:  CNTN2  Malacards:  CNTN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070593	dendrite self-avoidance	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0098632	cell-cell adhesion mediator activity	IBA	molecular function
GO:0007411	axon guidance	IBA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0097090	presynaptic membrane organization	IMP	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	NAS	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0044224	juxtaparanode region of axon	IEA	cellular component
GO:0043621	protein self-association	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0031623	receptor internalization	IEA	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0022010	central nervous system myelination	IEA	biological process
GO:0021853	cerebral cortex GABAergic interneuron migration	IEA	biological process
GO:0010769	regulation of cell morphogenesis involved in differentiation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0007628	adult walking behavior	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0007413	axonal fasciculation	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0071206	establishment of protein localization to juxtaparanode region of axon	IEA	biological process
GO:0071205	protein localization to juxtaparanode region of axon	IEA	biological process
GO:0060168	positive regulation of adenosine receptor signaling pathway	IEA	biological process
GO:0048710	regulation of astrocyte differentiation	IEA	biological process
GO:0048168	regulation of neuronal synaptic plasticity	IEA	biological process
GO:0045163	clustering of voltage-gated potassium channels	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0033268	node of Ranvier	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0031133	regulation of axon diameter	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0010954	positive regulation of protein processing	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0042802	identical protein binding	TAS	molecular function
GO:0033268	node of Ranvier	ISS	cellular component
GO:0071205	protein localization to juxtaparanode region of axon	ISS	biological process
GO:0043209	myelin sheath	ISS	cellular component
GO:0045163	clustering of voltage-gated potassium channels	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0044224	juxtaparanode region of axon	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0099025	anchored component of postsynaptic membrane	IMP	cellular component
GO:0099025	anchored component of postsynaptic membrane	IDA	cellular component
GO:0099025	anchored component of postsynaptic membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Familial adult myoclonic epilepsy	KEGG:H02213
Familial adult myoclonic epilepsy	KEGG:H02213
Malignant glioma	PMID:11280781
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq