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Q02246 (CNTN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 146. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Contactin-2
Alternative name(s):
Axonal glycoprotein TAG-1
Axonin-1
Transient axonal glycoprotein 1
Short name=TAX-1
Gene names
Name:CNTN2
Synonyms:AXT, TAG1, TAX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1040 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion. Ref.8

Subcellular location

Cell membrane; Lipid-anchorGPI-anchor. Note: Attached to the neuronal membrane by a GPI-anchor and is also released from neurons.

Involvement in disease

Epilepsy, familial adult myoclonic, 5 (FAME5) [MIM:615400]: A form of cortical myoclonic tremor with epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom; both complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive impairment.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the immunoglobulin superfamily. Contactin family.

Contains 4 fibronectin type-III domains.

Contains 6 Ig-like C2-type (immunoglobulin-like) domains.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DiseaseEpilepsy
   DomainImmunoglobulin domain
Repeat
Signal
   PTMDisulfide bond
Glycoprotein
GPI-anchor
Lipoprotein
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processadult walking behavior

Inferred from electronic annotation. Source: Ensembl

axon guidance

Traceable author statement. Source: Reactome

axonal fasciculation

Inferred from electronic annotation. Source: Ensembl

cell adhesion

Non-traceable author statement Ref.1. Source: ProtInc

cellular protein localization

Inferred from sequence or structural similarity. Source: BHF-UCL

central nervous system myelination

Inferred from electronic annotation. Source: Ensembl

cerebral cortex GABAergic interneuron migration

Inferred from electronic annotation. Source: Ensembl

clustering of voltage-gated potassium channels

Inferred from sequence or structural similarity. Source: BHF-UCL

establishment of protein localization to juxtaparanode region of axon

Inferred from electronic annotation. Source: Ensembl

learning

Inferred from electronic annotation. Source: Ensembl

microtubule cytoskeleton organization

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

neuron migration

Inferred from electronic annotation. Source: Ensembl

positive regulation of adenosine receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein processing

Inferred from electronic annotation. Source: Ensembl

presynaptic membrane organization

Inferred from mutant phenotype Ref.8. Source: UniProtKB

receptor internalization

Inferred from electronic annotation. Source: Ensembl

regulation of astrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

regulation of axon diameter

Inferred from electronic annotation. Source: Ensembl

regulation of neuronal synaptic plasticity

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentanchored component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

cell surface

Inferred from electronic annotation. Source: Ensembl

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

juxtaparanode region of axon

Inferred from sequence or structural similarity. Source: BHF-UCL

myelin sheath

Inferred from sequence or structural similarity. Source: BHF-UCL

neuronal cell body

Inferred from electronic annotation. Source: Ensembl

node of Ranvier

Inferred from sequence or structural similarity. Source: BHF-UCL

plasma membrane

Inferred from sequence or structural similarity. Source: BHF-UCL

synapse

Inferred from sequence or structural similarity. Source: BHF-UCL

voltage-gated potassium channel complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncarbohydrate binding

Inferred from electronic annotation. Source: Ensembl

identical protein binding

Traceable author statement PubMed 12963709. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3030 Ref.6
Chain31 – 1012982Contactin-2
PRO_0000014695
Propeptide1013 – 104028Removed in mature form Potential
PRO_0000014696

Regions

Domain43 – 12886Ig-like C2-type 1
Domain133 – 22290Ig-like C2-type 2
Domain239 – 32284Ig-like C2-type 3
Domain327 – 41185Ig-like C2-type 4
Domain417 – 50488Ig-like C2-type 5
Domain509 – 60395Ig-like C2-type 6
Domain610 – 70899Fibronectin type-III 1
Domain713 – 81098Fibronectin type-III 2
Domain815 – 91096Fibronectin type-III 3
Domain915 – 100692Fibronectin type-III 4
Motif794 – 7963Cell attachment site By similarity
Compositional bias606 – 6127Gly/Pro-rich

Amino acid modifications

Lipidation10121GPI-anchor amidated asparagine Potential
Glycosylation761N-linked (GlcNAc...) Potential
Glycosylation1981N-linked (GlcNAc...) Potential
Glycosylation2041N-linked (GlcNAc...) Potential
Glycosylation4611N-linked (GlcNAc...) Potential
Glycosylation4771N-linked (GlcNAc...) Potential
Glycosylation4981N-linked (GlcNAc...) Potential
Glycosylation5251N-linked (GlcNAc...) Potential
Glycosylation8301N-linked (GlcNAc...) Potential
Glycosylation9041N-linked (GlcNAc...) Ref.7
Glycosylation9181N-linked (GlcNAc...) Potential
Glycosylation9401N-linked (GlcNAc...) Potential
Disulfide bond61 ↔ 111 Ref.9
Disulfide bond155 ↔ 207 Ref.9
Disulfide bond261 ↔ 306 Ref.9
Disulfide bond348 ↔ 395 Ref.9

Natural variations

Natural variant1451A → T.
Corresponds to variant rs2275697 [ dbSNP | Ensembl ].
VAR_021918
Natural variant3661P → L.
Corresponds to variant rs2229866 [ dbSNP | Ensembl ].
VAR_029129
Natural variant6571R → W.
Corresponds to variant rs2305276 [ dbSNP | Ensembl ].
VAR_021919
Natural variant10241V → I.
Corresponds to variant rs17416074 [ dbSNP | Ensembl ].
VAR_049867

Secondary structure

................................................................................. 1040
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q02246 [UniParc].

Last modified July 1, 1993. Version 1.
Checksum: 254E78DD3C28EFB6

FASTA1,040113,393
        10         20         30         40         50         60 
MGTATRRKPH LLLVAAVALV SSSAWSSALG SQTTFGPVFE DQPLSVLFPE ESTEEQVLLA 

        70         80         90        100        110        120 
CRARASPPAT YRWKMNGTEM KLEPGSRHQL VGGNLVIMNP TKAQDAGVYQ CLASNPVGTV 

       130        140        150        160        170        180 
VSREAILRFG FLQEFSKEER DPVKAHEGWG VMLPCNPPAH YPGLSYRWLL NEFPNFIPTD 

       190        200        210        220        230        240 
GRHFVSQTTG NLYIARTNAS DLGNYSCLAT SHMDFSTKSV FSKFAQLNLA AEDTRLFAPS 

       250        260        270        280        290        300 
IKARFPAETY ALVGQQVTLE CFAFGNPVPR IKWRKVDGSL SPQWTTAEPT LQIPSVSFED 

       310        320        330        340        350        360 
EGTYECEAEN SKGRDTVQGR IIVQAQPEWL KVISDTEADI GSNLRWGCAA AGKPRPTVRW 

       370        380        390        400        410        420 
LRNGEPLASQ NRVEVLAGDL RFSKLSLEDS GMYQCVAENK HGTIYASAEL AVQALAPDFR 

       430        440        450        460        470        480 
LNPVRRLIPA ARGGEILIPC QPRAAPKAVV LWSKGTEILV NSSRVTVTPD GTLIIRNISR 

       490        500        510        520        530        540 
SDEGKYTCFA ENFMGKANST GILSVRDATK ITLAPSSADI NLGDNLTLQC HASHDPTMDL 

       550        560        570        580        590        600 
TFTWTLDDFP IDFDKPGGHY RRTNVKETIG DLTILNAQLR HGGKYTCMAQ TVVDSASKEA 

       610        620        630        640        650        660 
TVLVRGPPGP PGGVVVRDIG DTTIQLSWSR GFDNHSPIAK YTLQARTPPA GKWKQVRTNP 

       670        680        690        700        710        720 
ANIEGNAETA QVLGLTPWMD YEFRVIASNI LGTGEPSGPS SKIRTREAAP SVAPSGLSGG 

       730        740        750        760        770        780 
GGAPGELIVN WTPMSREYQN GDGFGYLLSF RRQGSTHWQT ARVPGADAQY FVYSNESVRP 

       790        800        810        820        830        840 
YTPFEVKIRS YNRRGDGPES LTALVYSAEE EPRVAPTKVW AKGVSSSEMN VTWEPVQQDM 

       850        860        870        880        890        900 
NGILLGYEIR YWKAGDKEAA ADRVRTAGLD TSARVSGLHP NTKYHVTVRA YNRAGTGPAS 

       910        920        930        940        950        960 
PSANATTMKP PPRRPPGNIS WTFSSSSLSI KWDPVVPFRN ESAVTGYKML YQNDLHLTPT 

       970        980        990       1000       1010       1020 
LHLTGKNWIE IPVPEDIGHA LVQIRTTGPG GDGIPAEVHI VRNGGTSMMV ENMAVRPAPH 

      1030       1040 
PGTVISHSVA MLILIGSLEL 

« Hide

References

« Hide 'large scale' references
[1]"cDNA cloning, structural features, and eucaryotic expression of human TAG-1/axonin-1."
Hasler T.H., Rader C., Stoeckli E.T., Zuellig R.A., Sonderegger P.
Eur. J. Biochem. 211:329-339(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Brain.
[2]"Isolation of the cDNA and chromosomal localization of the gene (TAX1) encoding the human axonal glycoprotein TAG-1."
Tsiotra C.P., Karagogeos D., Theodorakis K., Michaelidis M.T., Modi W.S., Furley J.A., Jessel M.T., Papamatheakis J.
Genomics 18:562-567(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Brain.
[3]"The human TAX1 gene encoding the axon-associated cell adhesion molecule TAG-1/axonin-1: genomic structure and basic promoter."
Kozlov S.V., Giger R.J., Hasler T., Korvatska E., Schorderet D.F., Sonderegger P.
Genomics 30:141-148(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Placenta.
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Molecular structure and functional studies of the TAX-1 promoter."
Tsiotra C.P., Theodorakis C., Michaelidis M.T., Mamalaki C., Karagogeus D., Papamatheakis J.
Submitted (NOV-1995) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-136.
Tissue: Placenta.
[6]"Signal peptide prediction based on analysis of experimentally verified cleavage sites."
Zhang Z., Henzel W.J.
Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 31-45.
[7]"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-904.
Tissue: Plasma.
[8]"Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2."
Stogmann E., Reinthaler E., Eltawil S., El Etribi M.A., Hemeda M., El Nahhas N., Gaber A.M., Fouad A., Edris S., Benet-Pages A., Eck S.H., Pataraia E., Mei D., Brice A., Lesage S., Guerrini R., Zimprich F., Strom T.M., Zimprich A.
Brain 136:1155-1160(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN FAME5, FUNCTION.
[9]"The crystal structure of the ligand-binding module of human TAG-1 suggests a new mode of homophilic interaction."
Mortl M., Sonderegger P., Diederichs K., Welte W.
Protein Sci. 16:2174-2183(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (3.07 ANGSTROMS) OF 34-414, DISULFIDE BONDS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X68274 mRNA. Translation: CAA48335.1.
X67734 mRNA. Translation: CAA47963.1.
X84420 Genomic DNA. Translation: CAA59137.1.
AL583832 Genomic DNA. Translation: CAI15288.1.
X92681 Genomic DNA. Translation: CAA63365.1.
PIRA49356. S35508.
RefSeqNP_005067.1. NM_005076.3.
UniGeneHs.519220.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2OM5X-ray3.07A34-414[»]
ProteinModelPortalQ02246.
SMRQ02246. Positions 34-1001.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112763. 35 interactions.
IntActQ02246. 2 interactions.
MINTMINT-2805397.
STRING9606.ENSP00000330633.

Protein family/group databases

TCDB8.A.23.1.3. the basigin (basigin) family.

PTM databases

PhosphoSiteQ02246.

Polymorphism databases

DMDM399092.

Proteomic databases

PaxDbQ02246.
PRIDEQ02246.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331830; ENSP00000330633; ENSG00000184144.
GeneID6900.
KEGGhsa:6900.
UCSCuc001hbq.1. human.

Organism-specific databases

CTD6900.
GeneCardsGC01P205012.
HGNCHGNC:2172. CNTN2.
HPAHPA001397.
HPA012497.
MIM190197. gene.
615400. phenotype.
neXtProtNX_Q02246.
Orphanet86814. Benign adult familial myoclonic epilepsy.
PharmGKBPA26686.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293951.
HOGENOMHOG000059617.
HOVERGENHBG051047.
InParanoidQ02246.
KOK06760.
OMAECFAFGN.
OrthoDBEOG7J17Z5.
PhylomeDBQ02246.
TreeFamTF351103.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

BgeeQ02246.
CleanExHS_CNTN2.
GenevestigatorQ02246.

Family and domain databases

Gene3D2.60.40.10. 9 hits.
InterProIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF00041. fn3. 3 hits.
PF07679. I-set. 4 hits.
[Graphical view]
SMARTSM00060. FN3. 4 hits.
SM00409. IG. 1 hit.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 3 hits.
PROSITEPS50853. FN3. 4 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCNTN2. human.
EvolutionaryTraceQ02246.
GeneWikiCNTN2.
GenomeRNAi6900.
NextBio26975.
PROQ02246.
SOURCESearch...

Entry information

Entry nameCNTN2_HUMAN
AccessionPrimary (citable) accession number: Q02246
Secondary accession number(s): P78432, Q5T054
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: April 16, 2014
This is version 146 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM