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Protein

Contactin-2

Gene

CNTN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • cell-cell adhesion mediator activity Source: GO_Central
  • identical protein binding Source: BHF-UCL
  • protein self-association Source: Ensembl

GO - Biological processi

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000184144.9
HGNCiHGNC:2172 CNTN2
MIMi190197 gene
neXtProtiNX_Q02246

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. 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. Some patients exhibit mild cognitive impairment. FAME5 is characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Inheritance is autosomal recessive.
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...) asparagineSequence analysis1
Disulfide bondi155 ↔ 207PROSITE-ProRule annotation1 Publication
Glycosylationi198N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi204N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi261 ↔ 306PROSITE-ProRule annotation1 Publication
Disulfide bondi348 ↔ 395PROSITE-ProRule annotation1 Publication
Glycosylationi461N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi477N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi498N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi525N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi830N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi904N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi918N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi940N-linked (GlcNAc...) asparagineSequence analysis1
Lipidationi1012GPI-anchor amidated asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiQ02246
PeptideAtlasiQ02246
PRIDEiQ02246
ProteomicsDBi58068

PTM databases

iPTMnetiQ02246
PhosphoSitePlusiQ02246

Expressioni

Gene expression databases

BgeeiENSG00000184144 Expressed in 110 organ(s), highest expression level in corpus callosum
CleanExiHS_CNTN2
ExpressionAtlasiQ02246 baseline and differential
GenevisibleiQ02246 HS

Organism-specific databases

HPAiHPA001397
HPA012497

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112763, 7 interactors
IntActiQ02246, 2 interactors
MINTiQ02246
STRINGi9606.ENSP00000330633

Structurei

Secondary structure

11040
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

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

Family and domain databases

CDDicd00063 FN3, 3 hits
Gene3Di2.60.40.10, 10 hits
InterProiView protein in InterPro
IPR032991 Contactin-2
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PANTHERiPTHR43905:SF1 PTHR43905:SF1, 1 hit
PfamiView protein in Pfam
PF00041 fn3, 3 hits
PF07679 I-set, 2 hits
SMARTiView protein in SMART
SM00060 FN3, 4 hits
SM00409 IG, 6 hits
SM00408 IGc2, 5 hits
SUPFAMiSSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 3 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 4 hits
PS50835 IG_LIKE, 6 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PQ86A0A1W2PQ86_HUMAN
Contactin-2
CNTN2
764Annotation score:
A0A1W2PQ11A0A1W2PQ11_HUMAN
Contactin-2
CNTN2
1,085Annotation score:
A0A1W2PPY1A0A1W2PPY1_HUMAN
Contactin-2
CNTN2
41Annotation score:
A0A1B0GTL7A0A1B0GTL7_HUMAN
Contactin-2
CNTN2
1,011Annotation score:
A0A1W2PR60A0A1W2PR60_HUMAN
Contactin-2
CNTN2
527Annotation score:
A0A1W2PQJ4A0A1W2PQJ4_HUMAN
Contactin-2
CNTN2
473Annotation score:
A0A1W2PPQ9A0A1W2PPQ9_HUMAN
Contactin-2
CNTN2
115Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021918145A → T. Corresponds to variant dbSNP:rs2275697Ensembl.1
Natural variantiVAR_029129366P → L. Corresponds to variant dbSNP:rs2229866Ensembl.1
Natural variantiVAR_021919657R → W. Corresponds to variant dbSNP:rs2305276EnsemblClinVar.1
Natural variantiVAR_0498671024V → I. Corresponds to variant dbSNP:rs17416074Ensembl.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 No translation available.
X92681 Genomic DNA Translation: CAA63365.1
CCDSiCCDS1449.1
PIRiS35508 A49356
RefSeqiNP_001333012.1, NM_001346083.1
NP_005067.1, NM_005076.4
UniGeneiHs.519220

Genome annotation databases

EnsembliENST00000331830; ENSP00000330633; ENSG00000184144
ENST00000638378; ENSP00000492617; ENSG00000184144
ENST00000639302; ENSP00000491671; ENSG00000184144
ENST00000640326; ENSP00000492495; ENSG00000184144
GeneIDi6900
KEGGihsa:6900
UCSCiuc001hbr.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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 No translation available.
X92681 Genomic DNA Translation: CAA63365.1
CCDSiCCDS1449.1
PIRiS35508 A49356
RefSeqiNP_001333012.1, NM_001346083.1
NP_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
MINTiQ02246
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
ProteomicsDBi58068

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331830; ENSP00000330633; ENSG00000184144
ENST00000638378; ENSP00000492617; ENSG00000184144
ENST00000639302; ENSP00000491671; ENSG00000184144
ENST00000640326; ENSP00000492495; ENSG00000184144
GeneIDi6900
KEGGihsa:6900
UCSCiuc001hbr.4 human

Organism-specific databases

CTDi6900
DisGeNETi6900
EuPathDBiHostDB:ENSG00000184144.9
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
OMAiIIPCQPR
OrthoDBiEOG091G00X7
PhylomeDBiQ02246
TreeFamiTF351103

Enzyme and pathway databases

ReactomeiR-HSA-373760 L1CAM interactions
R-HSA-419037 NCAM1 interactions
R-HSA-447038 NrCAM interactions

Miscellaneous databases

ChiTaRSiCNTN2 human
EvolutionaryTraceiQ02246
GeneWikiiCNTN2
GenomeRNAii6900
PROiPR:Q02246
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184144 Expressed in 110 organ(s), highest expression level in corpus callosum
CleanExiHS_CNTN2
ExpressionAtlasiQ02246 baseline and differential
GenevisibleiQ02246 HS

Family and domain databases

CDDicd00063 FN3, 3 hits
Gene3Di2.60.40.10, 10 hits
InterProiView protein in InterPro
IPR032991 Contactin-2
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PANTHERiPTHR43905:SF1 PTHR43905:SF1, 1 hit
PfamiView protein in Pfam
PF00041 fn3, 3 hits
PF07679 I-set, 2 hits
SMARTiView protein in SMART
SM00060 FN3, 4 hits
SM00409 IG, 6 hits
SM00408 IGc2, 5 hits
SUPFAMiSSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 3 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 4 hits
PS50835 IG_LIKE, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCNTN2_HUMAN
AccessioniPrimary (citable) accession number: Q02246
Secondary accession number(s): P78432, Q5T054
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: November 7, 2018
This is version 183 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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