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Protein

Contactin-associated protein-like 2

Gene

CNTNAP2

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

Functioni

Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.By similarity

GO - Molecular functioni

  • enzyme binding Source: BHF-UCL

GO - Biological processi

  • adult behavior Source: BHF-UCL
  • brain development Source: BHF-UCL
  • cell adhesion Source: UniProtKB-KW
  • cerebral cortex development Source: BHF-UCL
  • clustering of voltage-gated potassium channels Source: BHF-UCL
  • learning Source: BHF-UCL
  • limbic system development Source: BHF-UCL
  • neuron projection development Source: BHF-UCL
  • neuron projection morphogenesis Source: UniProtKB
  • neuron recognition Source: UniProtKB
  • protein localization to juxtaparanode region of axon Source: BHF-UCL
  • social behavior Source: BHF-UCL
  • striatum development Source: BHF-UCL
  • superior temporal gyrus development Source: BHF-UCL
  • thalamus development Source: BHF-UCL
  • transmission of nerve impulse Source: UniProtKB
  • vocalization behavior Source: BHF-UCL
  • vocal learning Source: BHF-UCL

Keywordsi

Biological processCell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Contactin-associated protein-like 2
Alternative name(s):
Cell recognition molecule Caspr2
Gene namesi
Name:CNTNAP2
Synonyms:CASPR21 Publication, KIAA0868
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:13830. CNTNAP2.

Subcellular locationi

  • Membrane By similarity; Single-pass type I membrane protein Curated
  • Cell projectionaxon By similarity
  • Cell junctionparanodal septate junction By similarity

  • Note: Expressed in the juxtaparadonal region.By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini28 – 1262ExtracellularSequence analysisAdd BLAST1235
Transmembranei1263 – 1283HelicalSequence analysisAdd BLAST21
Topological domaini1284 – 1331CytoplasmicSequence analysisAdd BLAST48

GO - Cellular componenti

  • axolemma Source: BHF-UCL
  • axon Source: BHF-UCL
  • cell surface Source: BHF-UCL
  • dendrite Source: BHF-UCL
  • early endosome Source: BHF-UCL
  • Golgi apparatus Source: BHF-UCL
  • integral component of membrane Source: UniProtKB
  • juxtaparanode region of axon Source: BHF-UCL
  • membrane Source: BHF-UCL
  • neuronal cell body Source: BHF-UCL
  • paranodal junction Source: UniProtKB-SubCell
  • perikaryon Source: BHF-UCL
  • voltage-gated potassium channel complex Source: BHF-UCL

Keywords - Cellular componenti

Cell junction, Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Cortical dysplasia-focal epilepsy syndrome (CDFES)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop.
See also OMIM:610042
Autism 15 (AUTS15)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
See also OMIM:612100
A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.

Keywords - Diseasei

Autism, Autism spectrum disorder, Epilepsy

Organism-specific databases

DisGeNETi26047.
MalaCardsiCNTNAP2.
MIMi610042. phenotype.
612100. phenotype.
OpenTargetsiENSG00000174469.
Orphaneti106. Autism.
163681. Cortical dysplasia - focal epilepsy syndrome.
221150. Pitt-Hopkins-like syndrome.
PharmGKBiPA26692.

Polymorphism and mutation databases

BioMutaiCNTNAP2.
DMDMi17433089.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000001950628 – 1331Contactin-associated protein-like 2Add BLAST1304

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi35 ↔ 181By similarity
Glycosylationi289N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi336 ↔ 368By similarity
Glycosylationi346N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi363N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi379N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi436N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi506N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi507N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi520 ↔ 552By similarity
Glycosylationi546N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi558 ↔ 569By similarity
Disulfide bondi563 ↔ 578By similarity
Disulfide bondi580 ↔ 590By similarity
Glycosylationi630N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi735N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi936 ↔ 963By similarity
Disulfide bondi967 ↔ 980By similarity
Disulfide bondi974 ↔ 989By similarity
Disulfide bondi991 ↔ 1001By similarity
Glycosylationi1116N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1178 ↔ 1214By similarity
Glycosylationi1198N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1303PhosphoserineBy similarity1
Modified residuei1306PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9UHC6.
PaxDbiQ9UHC6.
PeptideAtlasiQ9UHC6.
PRIDEiQ9UHC6.

PTM databases

iPTMnetiQ9UHC6.
PhosphoSitePlusiQ9UHC6.
SwissPalmiQ9UHC6.

Expressioni

Tissue specificityi

Predominantly expressed in nervous system.1 Publication

Gene expression databases

BgeeiENSG00000174469.
CleanExiHS_CNTNAP2.
ExpressionAtlasiQ9UHC6. baseline and differential.
GenevisibleiQ9UHC6. HS.

Organism-specific databases

HPAiHPA002739.

Interactioni

Subunit structurei

Interacts (via C-terminus) with KCNA2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MEOX2P502223EBI-310892,EBI-748397

GO - Molecular functioni

  • enzyme binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi117510. 8 interactors.
IntActiQ9UHC6. 6 interactors.
MINTiMINT-241211.
STRINGi9606.ENSP00000354778.

Structurei

3D structure databases

ProteinModelPortaliQ9UHC6.
SMRiQ9UHC6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 181F5/8 type CPROSITE-ProRule annotationAdd BLAST147
Domaini216 – 368Laminin G-like 1PROSITE-ProRule annotationAdd BLAST153
Domaini401 – 552Laminin G-like 2PROSITE-ProRule annotationAdd BLAST152
Domaini554 – 591EGF-like 1PROSITE-ProRule annotationAdd BLAST38
Domaini592 – 798Fibrinogen C-terminalPROSITE-ProRule annotationAdd BLAST207
Domaini799 – 963Laminin G-like 3PROSITE-ProRule annotationAdd BLAST165
Domaini963 – 1002EGF-like 2PROSITE-ProRule annotationAdd BLAST40
Domaini1055 – 1214Laminin G-like 4PROSITE-ProRule annotationAdd BLAST160

Sequence similaritiesi

Belongs to the neurexin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3516. Eukaryota.
ENOG410XPHG. LUCA.
GeneTreeiENSGT00760000118991.
HOGENOMiHOG000230964.
HOVERGENiHBG057718.
InParanoidiQ9UHC6.
KOiK07380.
OMAiRCMPNHC.
OrthoDBiEOG091G00LF.
PhylomeDBiQ9UHC6.
TreeFamiTF321823.

Family and domain databases

Gene3Di2.60.120.260. 1 hit.
3.90.215.10. 1 hit.
InterProiView protein in InterPro
IPR029831. Caspr2.
IPR013320. ConA-like_dom.
IPR000742. EGF-like_dom.
IPR000421. FA58C.
IPR014716. Fibrinogen_a/b/g_C_1.
IPR002181. Fibrinogen_a/b/g_C_dom.
IPR008979. Galactose-bd-like.
IPR001791. Laminin_G.
IPR003585. Neurexin-like.
PANTHERiPTHR10127:SF763. PTHR10127:SF763. 1 hit.
PfamiView protein in Pfam
PF00754. F5_F8_type_C. 1 hit.
PF02210. Laminin_G_2. 4 hits.
SMARTiView protein in SMART
SM00294. 4.1m. 1 hit.
SM00181. EGF. 2 hits.
SM00231. FA58C. 1 hit.
SM00282. LamG. 4 hits.
SUPFAMiSSF49785. SSF49785. 1 hit.
SSF49899. SSF49899. 4 hits.
SSF56496. SSF56496. 1 hit.
PROSITEiView protein in PROSITE
PS50026. EGF_3. 2 hits.
PS01285. FA58C_1. 1 hit.
PS01286. FA58C_2. 1 hit.
PS50022. FA58C_3. 1 hit.
PS51406. FIBRINOGEN_C_2. 1 hit.
PS50025. LAM_G_DOMAIN. 4 hits.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UHC6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQAAPRAGCG AALLLWIVSS CLCRAWTAPS TSQKCDEPLV SGLPHVAFSS
60 70 80 90 100
SSSISGSYSP GYAKINKRGG AGGWSPSDSD HYQWLQVDFG NRKQISAIAT
110 120 130 140 150
QGRYSSSDWV TQYRMLYSDT GRNWKPYHQD GNIWAFPGNI NSDGVVRHEL
160 170 180 190 200
QHPIIARYVR IVPLDWNGEG RIGLRIEVYG CSYWADVINF DGHVVLPYRF
210 220 230 240 250
RNKKMKTLKD VIALNFKTSE SEGVILHGEG QQGDYITLEL KKAKLVLSLN
260 270 280 290 300
LGSNQLGPIY GHTSVMTGSL LDDHHWHSVV IERQGRSINL TLDRSMQHFR
310 320 330 340 350
TNGEFDYLDL DYEITFGGIP FSGKPSSSSR KNFKGCMESI NYNGVNITDL
360 370 380 390 400
ARRKKLEPSN VGNLSFSCVE PYTVPVFFNA TSYLEVPGRL NQDLFSVSFQ
410 420 430 440 450
FRTWNPNGLL VFSHFADNLG NVEIDLTESK VGVHINITQT KMSQIDISSG
460 470 480 490 500
SGLNDGQWHE VRFLAKENFA ILTIDGDEAS AVRTNSPLQV KTGEKYFFGG
510 520 530 540 550
FLNQMNNSSH SVLQPSFQGC MQLIQVDDQL VNLYEVAQRK PGSFANVSID
560 570 580 590 600
MCAIIDRCVP NHCEHGGKCS QTWDSFKCTC DETGYSGATC HNSIYEPSCE
610 620 630 640 650
AYKHLGQTSN YYWIDPDGSG PLGPLKVYCN MTEDKVWTIV SHDLQMQTPV
660 670 680 690 700
VGYNPEKYSV TQLVYSASMD QISAITDSAE YCEQYVSYFC KMSRLLNTPD
710 720 730 740 750
GSPYTWWVGK ANEKHYYWGG SGPGIQKCAC GIERNCTDPK YYCNCDADYK
760 770 780 790 800
QWRKDAGFLS YKDHLPVSQV VVGDTDRQGS EAKLSVGPLR CQGDRNYWNA
810 820 830 840 850
ASFPNPSSYL HFSTFQGETS ADISFYFKTL TPWGVFLENM GKEDFIKLEL
860 870 880 890 900
KSATEVSFSF DVGNGPVEIV VRSPTPLNDD QWHRVTAERN VKQASLQVDR
910 920 930 940 950
LPQQIRKAPT EGHTRLELYS QLFVGGAGGQ QGFLGCIRSL RMNGVTLDLE
960 970 980 990 1000
ERAKVTSGFI SGCSGHCTSY GTNCENGGKC LERYHGYSCD CSNTAYDGTF
1010 1020 1030 1040 1050
CNKDVGAFFE EGMWLRYNFQ APATNARDSS SRVDNAPDQQ NSHPDLAQEE
1060 1070 1080 1090 1100
IRFSFSTTKA PCILLYISSF TTDFLAVLVK PTGSLQIRYN LGGTREPYNI
1110 1120 1130 1140 1150
DVDHRNMANG QPHSVNITRH EKTIFLKLDH YPSVSYHLPS SSDTLFNSPK
1160 1170 1180 1190 1200
SLFLGKVIET GKIDQEIHKY NTPGFTGCLS RVQFNQIAPL KAALRQTNAS
1210 1220 1230 1240 1250
AHVHIQGELV ESNCGASPLT LSPMSSATDP WHLDHLDSAS ADFPYNPGQG
1260 1270 1280 1290 1300
QAIRNGVNRN SAIIGGVIAV VIFTILCTLV FLIRYMFRHK GTYHTNEAKG
1310 1320 1330
AESAESADAA IMNNDPNFTE TIDESKKEWL I
Length:1,331
Mass (Da):148,167
Last modified:May 1, 2000 - v1
Checksum:iCFB2CB55BEFB99C2
GO
Isoform 2 (identifier: Q9UHC6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1223: Missing.

Note: No experimental confirmation available.
Show »
Length:108
Mass (Da):11,899
Checksum:iF0EB322C735B773E
GO

Sequence cautioni

The sequence BAA74891 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046227114R → Q1 PublicationCorresponds to variant dbSNP:rs189731792Ensembl.1
Natural variantiVAR_046228218T → M1 PublicationCorresponds to variant dbSNP:rs771028883Ensembl.1
Natural variantiVAR_046229226L → M1 PublicationCorresponds to variant dbSNP:rs372345438Ensembl.1
Natural variantiVAR_046230283R → C1 PublicationCorresponds to variant dbSNP:rs794727802Ensembl.1
Natural variantiVAR_046231382S → N1 PublicationCorresponds to variant dbSNP:rs371839994Ensembl.1
Natural variantiVAR_046232407N → S1 PublicationCorresponds to variant dbSNP:rs143877693Ensembl.1
Natural variantiVAR_046233418N → D1 PublicationCorresponds to variant dbSNP:rs772179690Ensembl.1
Natural variantiVAR_046234680E → K1 PublicationCorresponds to variant dbSNP:rs368905425Ensembl.1
Natural variantiVAR_046235699P → Q1 PublicationCorresponds to variant dbSNP:rs764412489Ensembl.1
Natural variantiVAR_046236716Y → C1 PublicationCorresponds to variant dbSNP:rs760930032Ensembl.1
Natural variantiVAR_046237731G → S1 PublicationCorresponds to variant dbSNP:rs369867547Ensembl.1
Natural variantiVAR_046238779G → D1 PublicationCorresponds to variant dbSNP:rs200413148Ensembl.1
Natural variantiVAR_046239869I → T Associated with susceptibility to autism. 1 PublicationCorresponds to variant dbSNP:rs121908445Ensembl.1
Natural variantiVAR_046240906R → H1 PublicationCorresponds to variant dbSNP:rs759801195Ensembl.1
Natural variantiVAR_0462411038D → N1 PublicationCorresponds to variant dbSNP:rs144003410Ensembl.1
Natural variantiVAR_0462421102V → A1 PublicationCorresponds to variant dbSNP:rs111599875Ensembl.1
Natural variantiVAR_0462431114S → G1 Publication1
Natural variantiVAR_0462441119R → H1 PublicationCorresponds to variant dbSNP:rs774709566Ensembl.1
Natural variantiVAR_0462451129D → H1 PublicationCorresponds to variant dbSNP:rs781236853Ensembl.1
Natural variantiVAR_0462461227A → T1 PublicationCorresponds to variant dbSNP:rs761684414Ensembl.1
Natural variantiVAR_0462471253I → T1 PublicationCorresponds to variant dbSNP:rs767821521Ensembl.1
Natural variantiVAR_0462481278T → I1 PublicationCorresponds to variant dbSNP:rs760047247Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0149761 – 1223Missing in isoform 2. 1 PublicationAdd BLAST1223

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF193613 mRNA. Translation: AAF25199.1.
AF319045 mRNA. Translation: AAK34932.1.
AF318292 Genomic DNA. Translation: AAK49902.1.
AF318298 Genomic DNA. Translation: AAK49903.1.
AB020675 mRNA. Translation: BAA74891.1. Different initiation.
CR933671 mRNA. Translation: CAI45967.1.
CH471146 Genomic DNA. Translation: EAW80084.1.
BC093780 mRNA. Translation: AAH93780.1.
BC113373 mRNA. Translation: AAI13374.1.
CCDSiCCDS5889.1. [Q9UHC6-1]
RefSeqiNP_054860.1. NM_014141.5. [Q9UHC6-1]
UniGeneiHs.655684.

Genome annotation databases

EnsembliENST00000361727; ENSP00000354778; ENSG00000174469. [Q9UHC6-1]
ENST00000463592; ENSP00000486292; ENSG00000174469. [Q9UHC6-2]
ENST00000613345; ENSP00000481057; ENSG00000278728. [Q9UHC6-2]
GeneIDi26047.
KEGGihsa:26047.
UCSCiuc003weu.3. human. [Q9UHC6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCNTP2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHC6
Secondary accession number(s): D3DWG2
, Q14DG2, Q52LV1, Q5H9Q7, Q9UQ12
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: May 1, 2000
Last modified: August 30, 2017
This is version 170 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. SIMILARITY comments
    Index of protein domains and families