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Protein

Contactin-2

Gene

CNTN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • carbohydrate binding Source: Ensembl
  • glycoprotein binding Source: Ensembl
  • identical protein binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163537-MONOMER.
ReactomeiR-HSA-373760. L1CAM interactions.
R-HSA-419037. NCAM1 interactions.
R-HSA-447038. NrCAM interactions.

Protein family/group databases

TCDBi8.A.23.1.3. the basigin (basigin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Contactin-2
Alternative name(s):
Axonal glycoprotein TAG-1
Axonin-1
Transient axonal glycoprotein 1
Short name:
TAX-1
Gene namesi
Name:CNTN2
Synonyms:AXT, TAG1, TAX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:2172. CNTN2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, familial adult myoclonic, 5 (FAME5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615400

Keywords - Diseasei

Epilepsy

Organism-specific databases

DisGeNETi6900.
MalaCardsiCNTN2.
MIMi615400. phenotype.
OpenTargetsiENSG00000184144.
Orphaneti86814. Benign adult familial myoclonic epilepsy.
PharmGKBiPA26686.

Polymorphism and mutation databases

BioMutaiCNTN2.
DMDMi399092.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 301 PublicationAdd BLAST30
ChainiPRO_000001469531 – 1012Contactin-2Add BLAST982
PropeptideiPRO_00000146961013 – 1040Removed in mature formSequence analysisAdd BLAST28

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi61 ↔ 111PROSITE-ProRule annotation1 Publication
Glycosylationi76N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi155 ↔ 207PROSITE-ProRule annotation1 Publication
Glycosylationi198N-linked (GlcNAc...)Sequence analysis1
Glycosylationi204N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi261 ↔ 306PROSITE-ProRule annotation1 Publication
Disulfide bondi348 ↔ 395PROSITE-ProRule annotation1 Publication
Glycosylationi461N-linked (GlcNAc...)Sequence analysis1
Glycosylationi477N-linked (GlcNAc...)Sequence analysis1
Glycosylationi498N-linked (GlcNAc...)Sequence analysis1
Glycosylationi525N-linked (GlcNAc...)Sequence analysis1
Glycosylationi830N-linked (GlcNAc...)Sequence analysis1
Glycosylationi904N-linked (GlcNAc...)1 Publication1
Glycosylationi918N-linked (GlcNAc...)Sequence analysis1
Glycosylationi940N-linked (GlcNAc...)Sequence analysis1
Lipidationi1012GPI-anchor amidated asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiQ02246.
PeptideAtlasiQ02246.
PRIDEiQ02246.

PTM databases

iPTMnetiQ02246.
PhosphoSitePlusiQ02246.

Expressioni

Gene expression databases

BgeeiENSG00000184144.
CleanExiHS_CNTN2.
ExpressionAtlasiQ02246. baseline and differential.
GenevisibleiQ02246. HS.

Organism-specific databases

HPAiHPA001397.
HPA012497.

Interactioni

GO - Molecular functioni

  • identical protein binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi112763. 7 interactors.
IntActiQ02246. 2 interactors.
MINTiMINT-2805397.
STRINGi9606.ENSP00000330633.

Structurei

Secondary structure

11040
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi35 – 41Combined sources7
Beta strandi46 – 51Combined sources6
Beta strandi55 – 59Combined sources5
Beta strandi62 – 67Combined sources6
Beta strandi70 – 75Combined sources6
Beta strandi87 – 91Combined sources5
Beta strandi94 – 99Combined sources6
Helixi102 – 105Combined sources4
Beta strandi107 – 115Combined sources9
Beta strandi118 – 121Combined sources4
Beta strandi125 – 132Combined sources8
Beta strandi151 – 153Combined sources3
Beta strandi160 – 162Combined sources3
Beta strandi165 – 172Combined sources8
Beta strandi180 – 185Combined sources6
Beta strandi187 – 189Combined sources3
Beta strandi192 – 196Combined sources5
Beta strandi203 – 213Combined sources11
Beta strandi216 – 221Combined sources6
Beta strandi225 – 227Combined sources3
Beta strandi229 – 231Combined sources3
Beta strandi237 – 243Combined sources7
Beta strandi247 – 252Combined sources6
Beta strandi257 – 260Combined sources4
Beta strandi262 – 267Combined sources6
Beta strandi270 – 275Combined sources6
Beta strandi289 – 295Combined sources7
Helixi298 – 300Combined sources3
Beta strandi302 – 310Combined sources9
Beta strandi313 – 324Combined sources12
Beta strandi329 – 331Combined sources3
Beta strandi336 – 339Combined sources4
Beta strandi344 – 347Combined sources4
Beta strandi352 – 354Combined sources3
Beta strandi357 – 366Combined sources10
Beta strandi373 – 376Combined sources4
Beta strandi379 – 384Combined sources6
Helixi387 – 389Combined sources3
Beta strandi391 – 398Combined sources8
Beta strandi403 – 413Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OM5X-ray3.07A34-414[»]
ProteinModelPortaliQ02246.
SMRiQ02246.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ02246.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 128Ig-like C2-type 1Add BLAST86
Domaini133 – 222Ig-like C2-type 2Add BLAST90
Domaini239 – 322Ig-like C2-type 3Add BLAST84
Domaini327 – 411Ig-like C2-type 4Add BLAST85
Domaini417 – 504Ig-like C2-type 5Add BLAST88
Domaini509 – 603Ig-like C2-type 6Add BLAST95
Domaini610 – 708Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST99
Domaini713 – 810Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST98
Domaini815 – 910Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST96
Domaini915 – 1006Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST92

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi794 – 796Cell attachment siteBy similarity3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi606 – 612Gly/Pro-rich7

Sequence similaritiesi

Contains 4 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3513. Eukaryota.
ENOG410XSVG. LUCA.
GeneTreeiENSGT00760000118840.
HOGENOMiHOG000059617.
HOVERGENiHBG051047.
InParanoidiQ02246.
KOiK06760.
OMAiECFAFGN.
OrthoDBiEOG091G00X7.
PhylomeDBiQ02246.
TreeFamiTF351103.

Family and domain databases

CDDicd00063. FN3. 3 hits.
Gene3Di2.60.40.10. 9 hits.
InterProiIPR032993. Contactin-2.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PANTHERiPTHR10489:SF50. PTHR10489:SF50. 1 hit.
PfamiPF00041. fn3. 3 hits.
PF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 4 hits.
SM00409. IG. 6 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 3 hits.
PROSITEiPS50853. FN3. 4 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q02246-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGTATRRKPH LLLVAAVALV SSSAWSSALG SQTTFGPVFE DQPLSVLFPE
60 70 80 90 100
ESTEEQVLLA CRARASPPAT YRWKMNGTEM KLEPGSRHQL VGGNLVIMNP
110 120 130 140 150
TKAQDAGVYQ CLASNPVGTV VSREAILRFG FLQEFSKEER DPVKAHEGWG
160 170 180 190 200
VMLPCNPPAH YPGLSYRWLL NEFPNFIPTD GRHFVSQTTG NLYIARTNAS
210 220 230 240 250
DLGNYSCLAT SHMDFSTKSV FSKFAQLNLA AEDTRLFAPS IKARFPAETY
260 270 280 290 300
ALVGQQVTLE CFAFGNPVPR IKWRKVDGSL SPQWTTAEPT LQIPSVSFED
310 320 330 340 350
EGTYECEAEN SKGRDTVQGR IIVQAQPEWL KVISDTEADI GSNLRWGCAA
360 370 380 390 400
AGKPRPTVRW LRNGEPLASQ NRVEVLAGDL RFSKLSLEDS GMYQCVAENK
410 420 430 440 450
HGTIYASAEL AVQALAPDFR LNPVRRLIPA ARGGEILIPC QPRAAPKAVV
460 470 480 490 500
LWSKGTEILV NSSRVTVTPD GTLIIRNISR SDEGKYTCFA ENFMGKANST
510 520 530 540 550
GILSVRDATK ITLAPSSADI NLGDNLTLQC HASHDPTMDL TFTWTLDDFP
560 570 580 590 600
IDFDKPGGHY RRTNVKETIG DLTILNAQLR HGGKYTCMAQ TVVDSASKEA
610 620 630 640 650
TVLVRGPPGP PGGVVVRDIG DTTIQLSWSR GFDNHSPIAK YTLQARTPPA
660 670 680 690 700
GKWKQVRTNP ANIEGNAETA QVLGLTPWMD YEFRVIASNI LGTGEPSGPS
710 720 730 740 750
SKIRTREAAP SVAPSGLSGG GGAPGELIVN WTPMSREYQN GDGFGYLLSF
760 770 780 790 800
RRQGSTHWQT ARVPGADAQY FVYSNESVRP YTPFEVKIRS YNRRGDGPES
810 820 830 840 850
LTALVYSAEE EPRVAPTKVW AKGVSSSEMN VTWEPVQQDM NGILLGYEIR
860 870 880 890 900
YWKAGDKEAA ADRVRTAGLD TSARVSGLHP NTKYHVTVRA YNRAGTGPAS
910 920 930 940 950
PSANATTMKP PPRRPPGNIS WTFSSSSLSI KWDPVVPFRN ESAVTGYKML
960 970 980 990 1000
YQNDLHLTPT LHLTGKNWIE IPVPEDIGHA LVQIRTTGPG GDGIPAEVHI
1010 1020 1030 1040
VRNGGTSMMV ENMAVRPAPH PGTVISHSVA MLILIGSLEL
Length:1,040
Mass (Da):113,393
Last modified:July 1, 1993 - v1
Checksum:i254E78DD3C28EFB6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021918145A → T.Corresponds to variant rs2275697dbSNPEnsembl.1
Natural variantiVAR_029129366P → L.Corresponds to variant rs2229866dbSNPEnsembl.1
Natural variantiVAR_021919657R → W.Corresponds to variant rs2305276dbSNPEnsembl.1
Natural variantiVAR_0498671024V → I.Corresponds to variant rs17416074dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1449.1.
PIRiS35508. A49356.
RefSeqiNP_005067.1. NM_005076.4.
UniGeneiHs.519220.

Genome annotation databases

EnsembliENST00000331830; ENSP00000330633; ENSG00000184144.
GeneIDi6900.
KEGGihsa:6900.
UCSCiuc001hbr.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1449.1.
PIRiS35508. A49356.
RefSeqiNP_005067.1. NM_005076.4.
UniGeneiHs.519220.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OM5X-ray3.07A34-414[»]
ProteinModelPortaliQ02246.
SMRiQ02246.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112763. 7 interactors.
IntActiQ02246. 2 interactors.
MINTiMINT-2805397.
STRINGi9606.ENSP00000330633.

Protein family/group databases

TCDBi8.A.23.1.3. the basigin (basigin) family.

PTM databases

iPTMnetiQ02246.
PhosphoSitePlusiQ02246.

Polymorphism and mutation databases

BioMutaiCNTN2.
DMDMi399092.

Proteomic databases

PaxDbiQ02246.
PeptideAtlasiQ02246.
PRIDEiQ02246.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331830; ENSP00000330633; ENSG00000184144.
GeneIDi6900.
KEGGihsa:6900.
UCSCiuc001hbr.4. human.

Organism-specific databases

CTDi6900.
DisGeNETi6900.
GeneCardsiCNTN2.
HGNCiHGNC:2172. CNTN2.
HPAiHPA001397.
HPA012497.
MalaCardsiCNTN2.
MIMi190197. gene.
615400. phenotype.
neXtProtiNX_Q02246.
OpenTargetsiENSG00000184144.
Orphaneti86814. Benign adult familial myoclonic epilepsy.
PharmGKBiPA26686.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3513. Eukaryota.
ENOG410XSVG. LUCA.
GeneTreeiENSGT00760000118840.
HOGENOMiHOG000059617.
HOVERGENiHBG051047.
InParanoidiQ02246.
KOiK06760.
OMAiECFAFGN.
OrthoDBiEOG091G00X7.
PhylomeDBiQ02246.
TreeFamiTF351103.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163537-MONOMER.
ReactomeiR-HSA-373760. L1CAM interactions.
R-HSA-419037. NCAM1 interactions.
R-HSA-447038. NrCAM interactions.

Miscellaneous databases

ChiTaRSiCNTN2. human.
EvolutionaryTraceiQ02246.
GeneWikiiCNTN2.
GenomeRNAii6900.
PROiQ02246.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184144.
CleanExiHS_CNTN2.
ExpressionAtlasiQ02246. baseline and differential.
GenevisibleiQ02246. HS.

Family and domain databases

CDDicd00063. FN3. 3 hits.
Gene3Di2.60.40.10. 9 hits.
InterProiIPR032993. Contactin-2.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PANTHERiPTHR10489:SF50. PTHR10489:SF50. 1 hit.
PfamiPF00041. fn3. 3 hits.
PF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 4 hits.
SM00409. IG. 6 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 3 hits.
PROSITEiPS50853. FN3. 4 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCNTN2_HUMAN
AccessioniPrimary (citable) accession number: Q02246
Secondary accession number(s): P78432, Q5T054
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: November 30, 2016
This is version 171 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.