UniProtKB - Q9UHC6 (CNTP2_HUMAN)
Protein
Contactin-associated protein-like 2
Gene
CNTNAP2
Organism
Homo sapiens (Human)
Status
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 process | Cell adhesion |
Enzyme and pathway databases
PathwayCommonsi | Q9UHC6 |
SIGNORi | Q9UHC6 |
Names & Taxonomyi
Protein namesi | Recommended name: Contactin-associated protein-like 2Alternative name(s): Cell recognition molecule Caspr2 |
Gene namesi | Name:CNTNAP2 Synonyms:CASPR21 Publication, KIAA0868 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13830, CNTNAP2 |
MIMi | 604569, gene |
neXtProti | NX_Q9UHC6 |
VEuPathDBi | HostDB:ENSG00000174469.17 |
Subcellular locationi
Other locations
- Membrane By similarity; Single-pass type I membrane protein Curated
- axon By similarity
- paranodal septate junction By similarity
Note: Expressed in the juxtaparadonal region.By similarity
Endosome
- early endosome Source: BHF-UCL
Golgi apparatus
- Golgi apparatus Source: BHF-UCL
Plasma Membrane
- axolemma Source: BHF-UCL
- voltage-gated potassium channel complex Source: BHF-UCL
Other locations
- axon Source: BHF-UCL
- cell surface Source: BHF-UCL
- dendrite 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
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 28 – 1262 | ExtracellularSequence analysisAdd BLAST | 1235 | |
Transmembranei | 1263 – 1283 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1284 – 1331 | CytoplasmicSequence analysisAdd BLAST | 48 |
Keywords - Cellular componenti
Cell junction, Cell projection, MembranePathology & Biotechi
Involvement in diseasei
Autism 15 (AUTS15)1 Publication
Disease susceptibility is associated with variants 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.
Related information in OMIMA 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.
Pitt-Hopkins-like syndrome 1 (PTHSL1)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones.
Related information in OMIMKeywords - Diseasei
Autism, Autism spectrum disorder, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 26047 |
MalaCardsi | CNTNAP2 |
MIMi | 610042, phenotype 612100, phenotype |
OpenTargetsi | ENSG00000174469 |
Orphaneti | 163681, Cortical dysplasia-focal epilepsy syndrome 106, NON RARE IN EUROPE: Autism 221150, Pitt-Hopkins-like syndrome |
PharmGKBi | PA26692 |
Miscellaneous databases
Pharosi | Q9UHC6, Tbio |
Genetic variation databases
BioMutai | CNTNAP2 |
DMDMi | 17433089 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 27 | Sequence analysisAdd BLAST | 27 | |
ChainiPRO_0000019506 | 28 – 1331 | Contactin-associated protein-like 2Add BLAST | 1304 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 35 ↔ 181 | By similarity | ||
Glycosylationi | 289 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 336 ↔ 368 | By similarity | ||
Glycosylationi | 346 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 363 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 379 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 436 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 506 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 507 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 520 ↔ 552 | By similarity | ||
Glycosylationi | 546 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 558 ↔ 569 | By similarity | ||
Disulfide bondi | 563 ↔ 578 | By similarity | ||
Disulfide bondi | 580 ↔ 590 | By similarity | ||
Glycosylationi | 630 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 735 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 936 ↔ 963 | By similarity | ||
Disulfide bondi | 967 ↔ 980 | By similarity | ||
Disulfide bondi | 974 ↔ 989 | By similarity | ||
Disulfide bondi | 991 ↔ 1001 | By similarity | ||
Glycosylationi | 1116 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1178 ↔ 1214 | By similarity | ||
Glycosylationi | 1198 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 1303 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1306 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | Q9UHC6 |
MassIVEi | Q9UHC6 |
PaxDbi | Q9UHC6 |
PeptideAtlasi | Q9UHC6 |
PRIDEi | Q9UHC6 |
ProteomicsDBi | 84311 [Q9UHC6-1] 84312 [Q9UHC6-2] |
PTM databases
GlyGeni | Q9UHC6, 12 sites |
iPTMneti | Q9UHC6 |
PhosphoSitePlusi | Q9UHC6 |
SwissPalmi | Q9UHC6 |
Expressioni
Tissue specificityi
Predominantly expressed in nervous system.1 Publication
Gene expression databases
Bgeei | ENSG00000174469, Expressed in forebrain and 185 other tissues |
ExpressionAtlasi | Q9UHC6, baseline and differential |
Genevisiblei | Q9UHC6, HS |
Organism-specific databases
HPAi | ENSG00000174469, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Interacts (via C-terminus) with KCNA2.
1 PublicationBinary interactionsi
Hide detailsQ9UHC6
With | #Exp. | IntAct |
---|---|---|
CNTN1 [Q12860] | 5 | EBI-310892,EBI-5564336 |
GORASP2 [Q9H8Y8] | 3 | EBI-310892,EBI-739467 |
MEOX2 [P50222] | 3 | EBI-310892,EBI-748397 |
POLR2G [P62487] | 3 | EBI-310892,EBI-347928 |
Isoform 1 [Q9UHC6-1]
With | #Exp. | IntAct |
---|---|---|
CANX [P27824] | 2 | EBI-16594440,EBI-355947 |
GO - Molecular functioni
- enzyme binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 117510, 13 interactors |
IntActi | Q9UHC6, 13 interactors |
MINTi | Q9UHC6 |
STRINGi | 9606.ENSP00000354778 |
Miscellaneous databases
RNActi | Q9UHC6, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SASBDBi | Q9UHC6 |
SMRi | Q9UHC6 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 35 – 181 | F5/8 type CPROSITE-ProRule annotationAdd BLAST | 147 | |
Domaini | 216 – 368 | Laminin G-like 1PROSITE-ProRule annotationAdd BLAST | 153 | |
Domaini | 401 – 552 | Laminin G-like 2PROSITE-ProRule annotationAdd BLAST | 152 | |
Domaini | 554 – 591 | EGF-like 1PROSITE-ProRule annotationAdd BLAST | 38 | |
Domaini | 592 – 798 | Fibrinogen C-terminalPROSITE-ProRule annotationAdd BLAST | 207 | |
Domaini | 799 – 963 | Laminin G-like 3PROSITE-ProRule annotationAdd BLAST | 165 | |
Domaini | 963 – 1002 | EGF-like 2PROSITE-ProRule annotationAdd BLAST | 40 | |
Domaini | 1055 – 1214 | Laminin G-like 4PROSITE-ProRule annotationAdd BLAST | 160 |
Sequence similaritiesi
Belongs to the neurexin family.Curated
Keywords - Domaini
EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3516, Eukaryota |
GeneTreei | ENSGT00940000154516 |
HOGENOMi | CLU_003504_1_0_1 |
InParanoidi | Q9UHC6 |
OMAi | LWIVSSC |
PhylomeDBi | Q9UHC6 |
TreeFami | TF321823 |
Family and domain databases
CDDi | cd00057, FA58C, 1 hit |
Gene3Di | 2.60.120.260, 1 hit |
InterProi | View protein in InterPro IPR029831, Caspr2 IPR013320, ConA-like_dom_sf IPR000742, EGF-like_dom IPR000421, FA58C IPR036056, Fibrinogen-like_C IPR002181, Fibrinogen_a/b/g_C_dom IPR008979, Galactose-bd-like_sf IPR001791, Laminin_G IPR003585, Neurexin-like |
PANTHERi | PTHR15036:SF33, PTHR15036:SF33, 1 hit |
Pfami | View protein in Pfam PF00754, F5_F8_type_C, 1 hit PF02210, Laminin_G_2, 4 hits |
SMARTi | View protein in SMART SM00294, 4.1m, 1 hit SM00181, EGF, 2 hits SM00231, FA58C, 1 hit SM00282, LamG, 4 hits |
SUPFAMi | SSF49785, SSF49785, 1 hit SSF49899, SSF49899, 4 hits SSF56496, SSF56496, 1 hit |
PROSITEi | View 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 |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UHC6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB7Z1Y6 | B7Z1Y6_HUMAN | Contactin-associated protein-like 2 | CNTNAP2 | 390 | Annotation score: | ||
A0A0J9YWG3 | A0A0J9YWG3_HUMAN | Contactin-associated protein-like 2 | CNTNAP2 | 328 | Annotation score: | ||
A0A0J9YYA0 | A0A0J9YYA0_HUMAN | Contactin-associated protein-like 2 | CNTNAP2 | 328 | Annotation score: | ||
A0A0D9SES4 | A0A0D9SES4_HUMAN | Contactin-associated protein-like 2 | CNTNAP2 | 119 | Annotation score: |
Sequence cautioni
The sequence BAA74891 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046227 | 114 | R → Q1 PublicationCorresponds to variant dbSNP:rs189731792EnsemblClinVar. | 1 | |
Natural variantiVAR_046228 | 218 | T → M1 PublicationCorresponds to variant dbSNP:rs771028883EnsemblClinVar. | 1 | |
Natural variantiVAR_046229 | 226 | L → M1 PublicationCorresponds to variant dbSNP:rs372345438EnsemblClinVar. | 1 | |
Natural variantiVAR_046230 | 283 | R → C1 PublicationCorresponds to variant dbSNP:rs794727802EnsemblClinVar. | 1 | |
Natural variantiVAR_046231 | 382 | S → N1 PublicationCorresponds to variant dbSNP:rs371839994EnsemblClinVar. | 1 | |
Natural variantiVAR_046232 | 407 | N → S1 PublicationCorresponds to variant dbSNP:rs143877693EnsemblClinVar. | 1 | |
Natural variantiVAR_046233 | 418 | N → D1 PublicationCorresponds to variant dbSNP:rs772179690EnsemblClinVar. | 1 | |
Natural variantiVAR_046234 | 680 | E → K1 PublicationCorresponds to variant dbSNP:rs368905425Ensembl. | 1 | |
Natural variantiVAR_046235 | 699 | P → Q1 PublicationCorresponds to variant dbSNP:rs764412489EnsemblClinVar. | 1 | |
Natural variantiVAR_046236 | 716 | Y → C1 PublicationCorresponds to variant dbSNP:rs760930032EnsemblClinVar. | 1 | |
Natural variantiVAR_046237 | 731 | G → S1 PublicationCorresponds to variant dbSNP:rs369867547EnsemblClinVar. | 1 | |
Natural variantiVAR_046238 | 779 | G → D1 PublicationCorresponds to variant dbSNP:rs200413148Ensembl. | 1 | |
Natural variantiVAR_046239 | 869 | I → T May be a risk factor for autism. 1 PublicationCorresponds to variant dbSNP:rs121908445EnsemblClinVar. | 1 | |
Natural variantiVAR_046240 | 906 | R → H1 PublicationCorresponds to variant dbSNP:rs759801195EnsemblClinVar. | 1 | |
Natural variantiVAR_046241 | 1038 | D → N1 PublicationCorresponds to variant dbSNP:rs144003410EnsemblClinVar. | 1 | |
Natural variantiVAR_046242 | 1102 | V → A1 PublicationCorresponds to variant dbSNP:rs111599875EnsemblClinVar. | 1 | |
Natural variantiVAR_046243 | 1114 | S → G1 PublicationCorresponds to variant dbSNP:rs983036503Ensembl. | 1 | |
Natural variantiVAR_046244 | 1119 | R → H1 PublicationCorresponds to variant dbSNP:rs774709566EnsemblClinVar. | 1 | |
Natural variantiVAR_046245 | 1129 | D → H1 PublicationCorresponds to variant dbSNP:rs781236853Ensembl. | 1 | |
Natural variantiVAR_046246 | 1227 | A → T1 PublicationCorresponds to variant dbSNP:rs761684414Ensembl. | 1 | |
Natural variantiVAR_046247 | 1253 | I → T1 PublicationCorresponds to variant dbSNP:rs767821521EnsemblClinVar. | 1 | |
Natural variantiVAR_046248 | 1278 | T → I1 PublicationCorresponds to variant dbSNP:rs760047247EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_014976 | 1 – 1223 | Missing in isoform 2. 1 PublicationAdd BLAST | 1223 |
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 |
CCDSi | CCDS5889.1 [Q9UHC6-1] |
RefSeqi | NP_054860.1, NM_014141.5 [Q9UHC6-1] |
Genome annotation databases
Ensembli | ENST00000361727; ENSP00000354778; ENSG00000174469 [Q9UHC6-1] ENST00000463592; ENSP00000486292; ENSG00000174469 [Q9UHC6-2] ENST00000613345; ENSP00000481057; ENSG00000278728 [Q9UHC6-2] |
GeneIDi | 26047 |
KEGGi | hsa:26047 |
UCSCi | uc003weu.3, human [Q9UHC6-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
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 |
CCDSi | CCDS5889.1 [Q9UHC6-1] |
RefSeqi | NP_054860.1, NM_014141.5 [Q9UHC6-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5Y4M | X-ray | 1.31 | A | 35-181 | [»] | |
SASBDBi | Q9UHC6 | |||||
SMRi | Q9UHC6 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117510, 13 interactors |
IntActi | Q9UHC6, 13 interactors |
MINTi | Q9UHC6 |
STRINGi | 9606.ENSP00000354778 |
PTM databases
GlyGeni | Q9UHC6, 12 sites |
iPTMneti | Q9UHC6 |
PhosphoSitePlusi | Q9UHC6 |
SwissPalmi | Q9UHC6 |
Genetic variation databases
BioMutai | CNTNAP2 |
DMDMi | 17433089 |
Proteomic databases
jPOSTi | Q9UHC6 |
MassIVEi | Q9UHC6 |
PaxDbi | Q9UHC6 |
PeptideAtlasi | Q9UHC6 |
PRIDEi | Q9UHC6 |
ProteomicsDBi | 84311 [Q9UHC6-1] 84312 [Q9UHC6-2] |
Protocols and materials databases
ABCDi | Q9UHC6, 1 sequenced antibody |
Antibodypediai | 682, 284 antibodies |
Genome annotation databases
Ensembli | ENST00000361727; ENSP00000354778; ENSG00000174469 [Q9UHC6-1] ENST00000463592; ENSP00000486292; ENSG00000174469 [Q9UHC6-2] ENST00000613345; ENSP00000481057; ENSG00000278728 [Q9UHC6-2] |
GeneIDi | 26047 |
KEGGi | hsa:26047 |
UCSCi | uc003weu.3, human [Q9UHC6-1] |
Organism-specific databases
CTDi | 26047 |
DisGeNETi | 26047 |
GeneCardsi | CNTNAP2 |
HGNCi | HGNC:13830, CNTNAP2 |
HPAi | ENSG00000174469, Tissue enhanced (brain) |
MalaCardsi | CNTNAP2 |
MIMi | 604569, gene 610042, phenotype 612100, phenotype |
neXtProti | NX_Q9UHC6 |
OpenTargetsi | ENSG00000174469 |
Orphaneti | 163681, Cortical dysplasia-focal epilepsy syndrome 106, NON RARE IN EUROPE: Autism 221150, Pitt-Hopkins-like syndrome |
PharmGKBi | PA26692 |
VEuPathDBi | HostDB:ENSG00000174469.17 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3516, Eukaryota |
GeneTreei | ENSGT00940000154516 |
HOGENOMi | CLU_003504_1_0_1 |
InParanoidi | Q9UHC6 |
OMAi | LWIVSSC |
PhylomeDBi | Q9UHC6 |
TreeFami | TF321823 |
Enzyme and pathway databases
PathwayCommonsi | Q9UHC6 |
SIGNORi | Q9UHC6 |
Miscellaneous databases
BioGRID-ORCSi | 26047, 4 hits in 875 CRISPR screens |
ChiTaRSi | CNTNAP2, human |
GeneWikii | CNTNAP2 |
GenomeRNAii | 26047 |
Pharosi | Q9UHC6, Tbio |
PROi | PR:Q9UHC6 |
RNActi | Q9UHC6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174469, Expressed in forebrain and 185 other tissues |
ExpressionAtlasi | Q9UHC6, baseline and differential |
Genevisiblei | Q9UHC6, HS |
Family and domain databases
CDDi | cd00057, FA58C, 1 hit |
Gene3Di | 2.60.120.260, 1 hit |
InterProi | View protein in InterPro IPR029831, Caspr2 IPR013320, ConA-like_dom_sf IPR000742, EGF-like_dom IPR000421, FA58C IPR036056, Fibrinogen-like_C IPR002181, Fibrinogen_a/b/g_C_dom IPR008979, Galactose-bd-like_sf IPR001791, Laminin_G IPR003585, Neurexin-like |
PANTHERi | PTHR15036:SF33, PTHR15036:SF33, 1 hit |
Pfami | View protein in Pfam PF00754, F5_F8_type_C, 1 hit PF02210, Laminin_G_2, 4 hits |
SMARTi | View protein in SMART SM00294, 4.1m, 1 hit SM00181, EGF, 2 hits SM00231, FA58C, 1 hit SM00282, LamG, 4 hits |
SUPFAMi | SSF49785, SSF49785, 1 hit SSF49899, SSF49899, 4 hits SSF56496, SSF56496, 1 hit |
PROSITEi | View 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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CNTP2_HUMAN | |
Accessioni | Q9UHC6Primary (citable) accession number: Q9UHC6 Secondary accession number(s): D3DWG2 Q9UQ12 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 5, 2001 |
Last sequence update: | May 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 200 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM