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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

May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction (By similarity).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 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
Complete GO annotation...

Keywords - Biological processi

Cell 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
ProteomesiUP000005640 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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 12621235ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1263 – 128321HelicalSequence AnalysisAdd
BLAST
Topological domaini1284 – 133148CytoplasmicSequence AnalysisAdd
BLAST

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
  • perikaryon Source: BHF-UCL
  • voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

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

MIMi610042. phenotype.
612100. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence AnalysisAdd
BLAST
Chaini28 – 13311304Contactin-associated protein-like 2PRO_0000019506Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi35 ↔ 181By similarity
Glycosylationi289 – 2891N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi336 ↔ 368By similarity
Glycosylationi346 – 3461N-linked (GlcNAc...)Sequence Analysis
Glycosylationi363 – 3631N-linked (GlcNAc...)Sequence Analysis
Glycosylationi379 – 3791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi436 – 4361N-linked (GlcNAc...)Sequence Analysis
Glycosylationi506 – 5061N-linked (GlcNAc...)Sequence Analysis
Glycosylationi507 – 5071N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi520 ↔ 552By similarity
Glycosylationi546 – 5461N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi558 ↔ 569By similarity
Disulfide bondi563 ↔ 578By similarity
Disulfide bondi580 ↔ 590By similarity
Modified residuei589 – 5891Phosphothreonine1 Publication
Modified residuei595 – 5951Phosphotyrosine1 Publication
Glycosylationi630 – 6301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi735 – 7351N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi936 ↔ 963By similarity
Disulfide bondi967 ↔ 980By similarity
Disulfide bondi974 ↔ 989By similarity
Disulfide bondi991 ↔ 1001By similarity
Glycosylationi1116 – 11161N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1178 ↔ 1214By similarity
Glycosylationi1198 – 11981N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9UHC6.
PaxDbiQ9UHC6.
PRIDEiQ9UHC6.

PTM databases

PhosphoSiteiQ9UHC6.

Expressioni

Tissue specificityi

Predominantly expressed in nervous system.1 Publication

Gene expression databases

BgeeiQ9UHC6.
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
MEOX2A4D1273EBI-310892,EBI-10172134

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ9UHC6.
SMRiQ9UHC6. Positions 34-181, 187-592, 799-1188.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini35 – 181147F5/8 type CPROSITE-ProRule annotationAdd
BLAST
Domaini216 – 368153Laminin G-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini401 – 552152Laminin G-like 2PROSITE-ProRule annotationAdd
BLAST
Domaini554 – 59138EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini592 – 798207Fibrinogen C-terminalPROSITE-ProRule annotationAdd
BLAST
Domaini799 – 963165Laminin G-like 3PROSITE-ProRule annotationAdd
BLAST
Domaini963 – 100240EGF-like 2PROSITE-ProRule annotationAdd
BLAST
Domaini1055 – 1214160Laminin G-like 4PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the neurexin family.Curated
Contains 2 EGF-like domains.PROSITE-ProRule annotation
Contains 1 F5/8 type C domain.PROSITE-ProRule annotation
Contains 1 fibrinogen C-terminal domain.PROSITE-ProRule annotation
Contains 4 laminin G-like domains.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG291100.
GeneTreeiENSGT00760000118991.
HOGENOMiHOG000230964.
HOVERGENiHBG057718.
InParanoidiQ9UHC6.
KOiK07380.
OMAiRCMPNHC.
OrthoDBiEOG7GXP9N.
PhylomeDBiQ9UHC6.
TreeFamiTF321823.

Family and domain databases

Gene3Di2.60.120.200. 5 hits.
2.60.120.260. 1 hit.
InterProiIPR029831. Caspr2.
IPR000421. Coagulation_fac_5/8-C_type_dom.
IPR013320. ConA-like_dom.
IPR000742. EG-like_dom.
IPR002181. Fibrinogen_a/b/g_C_dom.
IPR008979. Galactose-bd-like.
IPR001791. Laminin_G.
IPR003585. Neurexin-like.
[Graphical view]
PANTHERiPTHR10127:SF4. PTHR10127:SF4. 1 hit.
PfamiPF00008. EGF. 1 hit.
PF00754. F5_F8_type_C. 1 hit.
PF02210. Laminin_G_2. 4 hits.
[Graphical view]
SMARTiSM00294. 4.1m. 1 hit.
SM00181. EGF. 1 hit.
SM00231. FA58C. 1 hit.
SM00282. LamG. 4 hits.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
SSF49899. SSF49899. 4 hits.
SSF56496. SSF56496. 1 hit.
PROSITEiPS50026. 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.
[Graphical view]

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 BAA74891.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1141R → Q.1 Publication
Corresponds to variant rs189731792 [ dbSNP | Ensembl ].
VAR_046227
Natural varianti218 – 2181T → M.1 Publication
VAR_046228
Natural varianti226 – 2261L → M.1 Publication
VAR_046229
Natural varianti283 – 2831R → C.1 Publication
VAR_046230
Natural varianti382 – 3821S → N.1 Publication
VAR_046231
Natural varianti407 – 4071N → S.1 Publication
Corresponds to variant rs143877693 [ dbSNP | Ensembl ].
VAR_046232
Natural varianti418 – 4181N → D.1 Publication
VAR_046233
Natural varianti680 – 6801E → K.1 Publication
VAR_046234
Natural varianti699 – 6991P → Q.1 Publication
VAR_046235
Natural varianti716 – 7161Y → C.1 Publication
VAR_046236
Natural varianti731 – 7311G → S.1 Publication
VAR_046237
Natural varianti779 – 7791G → D.1 Publication
Corresponds to variant rs200413148 [ dbSNP | Ensembl ].
VAR_046238
Natural varianti869 – 8691I → T Associated with susceptibility to autism. 1 Publication
VAR_046239
Natural varianti906 – 9061R → H.1 Publication
VAR_046240
Natural varianti1038 – 10381D → N.1 Publication
VAR_046241
Natural varianti1102 – 11021V → A.1 Publication
Corresponds to variant rs111599875 [ dbSNP | Ensembl ].
VAR_046242
Natural varianti1114 – 11141S → G.1 Publication
VAR_046243
Natural varianti1119 – 11191R → H.1 Publication
VAR_046244
Natural varianti1129 – 11291D → H.1 Publication
VAR_046245
Natural varianti1227 – 12271A → T.1 Publication
VAR_046246
Natural varianti1253 – 12531I → T.1 Publication
VAR_046247
Natural varianti1278 – 12781T → I.1 Publication
VAR_046248

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 12231223Missing in isoform 2. 1 PublicationVSP_014976Add
BLAST

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.
ENST00000463592; ENSP00000486292; ENSG00000174469. [Q9UHC6-2]
GeneIDi26047.
KEGGihsa:26047.
UCSCiuc003weu.2. human. [Q9UHC6-1]
uc003wev.2. human. [Q9UHC6-2]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9UHC6.
SMRiQ9UHC6. Positions 34-181, 187-592, 799-1188.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ9UHC6.

Polymorphism and mutation databases

BioMutaiCNTNAP2.
DMDMi17433089.

Proteomic databases

MaxQBiQ9UHC6.
PaxDbiQ9UHC6.
PRIDEiQ9UHC6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361727; ENSP00000354778; ENSG00000174469.
ENST00000463592; ENSP00000486292; ENSG00000174469. [Q9UHC6-2]
GeneIDi26047.
KEGGihsa:26047.
UCSCiuc003weu.2. human. [Q9UHC6-1]
uc003wev.2. human. [Q9UHC6-2]

Organism-specific databases

CTDi26047.
GeneCardsiGC07P145863.
HGNCiHGNC:13830. CNTNAP2.
HPAiHPA002739.
MIMi604569. gene.
610042. phenotype.
612100. phenotype.
neXtProtiNX_Q9UHC6.
Orphaneti106. Autism.
163681. Cortical dysplasia - focal epilepsy syndrome.
221150. Pitt-Hopkins-like syndrome.
PharmGKBiPA26692.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG291100.
GeneTreeiENSGT00760000118991.
HOGENOMiHOG000230964.
HOVERGENiHBG057718.
InParanoidiQ9UHC6.
KOiK07380.
OMAiRCMPNHC.
OrthoDBiEOG7GXP9N.
PhylomeDBiQ9UHC6.
TreeFamiTF321823.

Miscellaneous databases

ChiTaRSiCNTNAP2. human.
GeneWikiiCNTNAP2.
GenomeRNAii26047.
NextBioi47891.
PROiQ9UHC6.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UHC6.
CleanExiHS_CNTNAP2.
ExpressionAtlasiQ9UHC6. baseline and differential.
GenevisibleiQ9UHC6. HS.

Family and domain databases

Gene3Di2.60.120.200. 5 hits.
2.60.120.260. 1 hit.
InterProiIPR029831. Caspr2.
IPR000421. Coagulation_fac_5/8-C_type_dom.
IPR013320. ConA-like_dom.
IPR000742. EG-like_dom.
IPR002181. Fibrinogen_a/b/g_C_dom.
IPR008979. Galactose-bd-like.
IPR001791. Laminin_G.
IPR003585. Neurexin-like.
[Graphical view]
PANTHERiPTHR10127:SF4. PTHR10127:SF4. 1 hit.
PfamiPF00008. EGF. 1 hit.
PF00754. F5_F8_type_C. 1 hit.
PF02210. Laminin_G_2. 4 hits.
[Graphical view]
SMARTiSM00294. 4.1m. 1 hit.
SM00181. EGF. 1 hit.
SM00231. FA58C. 1 hit.
SM00282. LamG. 4 hits.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
SSF49899. SSF49899. 4 hits.
SSF56496. SSF56496. 1 hit.
PROSITEiPS50026. 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.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels."
    Poliak S., Gollan L., Martinez R., Custer A., Einheber S., Salzer J.L., Trimmer J.S., Shrager P., Peles E.
    Neuron 24:1037-1047(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH KCNA2, TISSUE SPECIFICITY.
    Tissue: Brain.
  2. "The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35."
    Nakabayashi K., Scherer S.W.
    Genomics 73:108-112(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Retina.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  7. "Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2."
    Strauss K.A., Puffenberger E.G., Huentelman M.J., Gottlieb S., Dobrin S.E., Parod J.M., Stephan D.A., Morton D.H.
    N. Engl. J. Med. 354:1370-1377(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CDFES.
  8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-589 AND TYR-595, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  9. Cited for: VARIANTS GLN-114; MET-218; MET-226; CYS-283; ASN-382; SER-407; ASP-418; LYS-680; GLN-699; CYS-716; SER-731; ASP-779; THR-869; HIS-906; ASN-1038; ALA-1102; GLY-1114; HIS-1119; HIS-1129; THR-1227; THR-1253 AND ILE-1278, CHROMOSOMAL REARRANGEMENT, ASSOCIATION WITH SUSCEPTIBILITY TO AUTISM.

Entry informationi

Entry nameiCNTP2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHC6
Secondary accession number(s): D3DWG2
, Q14DG2, Q52LV1, Q5H9Q7, Q9UQ12
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: May 1, 2000
Last modified: July 22, 2015
This is version 150 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

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

External Data

Dasty 3

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 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.