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UniProtKB - Q9UHC6 (CNTP2_HUMAN)

Entry version 191 (16 Oct 2019)
Sequence version 1 (01 May 2000)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UHC6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Contactin-associated protein-like 2
Alternative name(s):
Cell recognition molecule Caspr2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CNTNAP2
Synonyms:CASPR21 Publication, KIAA0868
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13830 CNTNAP2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604569 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UHC6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini28 – 1262ExtracellularSequence analysisAdd BLAST1235
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1263 – 1283HelicalSequence analysisAdd BLAST21
Topological domaini1284 – 1331CytoplasmicSequence analysisAdd BLAST48

Keywords - Cellular componenti

Cell junction, Cell projection, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Autism 15 (AUTS15)1 Publication
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.
Related information in OMIM
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.
Pitt-Hopkins-like syndrome 1 (PTHSL1)2 Publications
The disease is caused by mutations 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 OMIM

Keywords - Diseasei

Autism, Autism spectrum disorder, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		26047

MalaCards human disease database

More...MalaCardsi		CNTNAP2
MIMi610042 phenotype
612100 phenotype

Open Targets

More...OpenTargetsi		ENSG00000174469

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		163681 Cortical dysplasia-focal epilepsy syndrome
106 NON RARE IN EUROPE: Autism
221150 Pitt-Hopkins-like syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26692

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UHC6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CNTNAP2

Domain mapping of disease mutations (DMDM)

More...DMDMi		17433089

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Sequence analysisAdd BLAST27
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001950628 – 1331Contactin-associated protein-like 2Add BLAST1304

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi35 ↔ 181By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1303PhosphoserineBy similarity1
Modified residuei1306PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UHC6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UHC6

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9UHC6

PeptideAtlas

More...PeptideAtlasi		Q9UHC6

PRoteomics IDEntifications database

More...PRIDEi		Q9UHC6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		84311 [Q9UHC6-1]
84312 [Q9UHC6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UHC6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9UHC6

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9UHC6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly expressed in nervous system.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000174469 Expressed in 163 organ(s), highest expression level in forebrain

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UHC6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UHC6 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA002739

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via C-terminus) with KCNA2.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117510, 8 interactors

Protein interaction database and analysis system

More...IntActi		Q9UHC6, 13 interactors

Molecular INTeraction database

More...MINTi		Q9UHC6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000354778

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11331
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9UHC6

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the neurexin family.Curated

Keywords - Domaini

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3516 Eukaryota
ENOG410XPHG LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154516

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230964

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UHC6

KEGG Orthology (KO)

More...KOi		K07380

Identification of Orthologs from Complete Genome Data

More...OMAi		LWIVSSC

Database of Orthologous Groups

More...OrthoDBi		338397at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UHC6

TreeFam database of animal gene trees

More...TreeFami		TF321823

Family and domain databases

Conserved Domains Database

More...CDDi		cd00057 FA58C, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.120.260, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR15036:SF33 PTHR15036:SF33, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00754 F5_F8_type_C, 1 hit
PF02210 Laminin_G_2, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00294 4.1m, 1 hit
SM00181 EGF, 2 hits
SM00231 FA58C, 1 hit
SM00282 LamG, 4 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49785 SSF49785, 1 hit
SSF49899 SSF49899, 4 hits
SSF56496 SSF56496, 1 hit

PROSITE; a protein domain and family database

More...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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z1Y6B7Z1Y6_HUMAN
Contactin-associated protein-like 2
CNTNAP2
390Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YWG3A0A0J9YWG3_HUMAN
Contactin-associated protein-like 2
CNTNAP2
328Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YYA0A0A0J9YYA0_HUMAN
Contactin-associated protein-like 2
CNTNAP2
328Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SES4A0A0D9SES4_HUMAN
Contactin-associated protein-like 2
CNTNAP2
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA74891 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_046227114R → Q1 PublicationCorresponds to variant dbSNP:rs189731792EnsemblClinVar.1
Natural variantiVAR_046228218T → M1 PublicationCorresponds to variant dbSNP:rs771028883EnsemblClinVar.1
Natural variantiVAR_046229226L → M1 PublicationCorresponds to variant dbSNP:rs372345438EnsemblClinVar.1
Natural variantiVAR_046230283R → C1 PublicationCorresponds to variant dbSNP:rs794727802EnsemblClinVar.1
Natural variantiVAR_046231382S → N1 PublicationCorresponds to variant dbSNP:rs371839994EnsemblClinVar.1
Natural variantiVAR_046232407N → S1 PublicationCorresponds to variant dbSNP:rs143877693EnsemblClinVar.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:rs760930032EnsemblClinVar.1
Natural variantiVAR_046237731G → S1 PublicationCorresponds to variant dbSNP:rs369867547EnsemblClinVar.1
Natural variantiVAR_046238779G → D1 PublicationCorresponds to variant dbSNP:rs200413148Ensembl.1
Natural variantiVAR_046239869I → T Rare polymorphism; may be a risk factor for autism. 1 PublicationCorresponds to variant dbSNP:rs121908445EnsemblClinVar.1
Natural variantiVAR_046240906R → H1 PublicationCorresponds to variant dbSNP:rs759801195EnsemblClinVar.1
Natural variantiVAR_0462411038D → N1 PublicationCorresponds to variant dbSNP:rs144003410EnsemblClinVar.1
Natural variantiVAR_0462421102V → A1 PublicationCorresponds to variant dbSNP:rs111599875EnsemblClinVar.1
Natural variantiVAR_0462431114S → G1 PublicationCorresponds to variant dbSNP:rs983036503Ensembl.1
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:rs767821521EnsemblClinVar.1
Natural variantiVAR_0462481278T → I1 PublicationCorresponds to variant dbSNP:rs760047247Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0149761 – 1223Missing in isoform 2. 1 PublicationAdd BLAST1223

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5889.1 [Q9UHC6-1]

NCBI Reference Sequences

More...RefSeqi		NP_054860.1, NM_014141.5 [Q9UHC6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000361727; ENSP00000354778; ENSG00000174469 [Q9UHC6-1]
ENST00000463592; ENSP00000486292; ENSG00000174469 [Q9UHC6-2]
ENST00000613345; ENSP00000481057; ENSG00000278728 [Q9UHC6-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26047

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26047

UCSC genome browser

More...UCSCi		uc003weu.3 human [Q9UHC6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5Y4MX-ray1.31A35-181[»]
SMRiQ9UHC6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi117510, 8 interactors
IntActiQ9UHC6, 13 interactors
MINTiQ9UHC6
STRINGi9606.ENSP00000354778

PTM databases

iPTMnetiQ9UHC6
PhosphoSitePlusiQ9UHC6
SwissPalmiQ9UHC6

Polymorphism and mutation databases

BioMutaiCNTNAP2
DMDMi17433089

Proteomic databases

jPOSTiQ9UHC6
MassIVEiQ9UHC6
PaxDbiQ9UHC6
PeptideAtlasiQ9UHC6
PRIDEiQ9UHC6
ProteomicsDBi84311 [Q9UHC6-1]
84312 [Q9UHC6-2]

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26047
DisGeNETi26047

GeneCards: human genes, protein and diseases

More...GeneCardsi		CNTNAP2
HGNCiHGNC:13830 CNTNAP2
HPAiHPA002739
MalaCardsiCNTNAP2
MIMi604569 gene
610042 phenotype
612100 phenotype
neXtProtiNX_Q9UHC6
OpenTargetsiENSG00000174469
Orphaneti163681 Cortical dysplasia-focal epilepsy syndrome
106 NON RARE IN EUROPE: Autism
221150 Pitt-Hopkins-like syndrome
PharmGKBiPA26692

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3516 Eukaryota
ENOG410XPHG LUCA
GeneTreeiENSGT00940000154516
HOGENOMiHOG000230964
InParanoidiQ9UHC6
KOiK07380
OMAiLWIVSSC
OrthoDBi338397at2759
PhylomeDBiQ9UHC6
TreeFamiTF321823

Enzyme and pathway databases

SIGNORiQ9UHC6

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CNTNAP2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CNTNAP2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		26047
PharosiQ9UHC6

Protein Ontology

More...PROi		PR:Q9UHC6

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000174469 Expressed in 163 organ(s), highest expression level in forebrain
ExpressionAtlasiQ9UHC6 baseline and differential
GenevisibleiQ9UHC6 HS

Family and domain databases

CDDicd00057 FA58C, 1 hit
Gene3Di2.60.120.260, 1 hit
InterProiView 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
PANTHERiPTHR15036:SF33 PTHR15036:SF33, 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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCNTP2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UHC6
Secondary accession number(s): D3DWG2
, Q14DG2, Q52LV1, Q5H9Q7, Q9UQ12
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: May 1, 2000
Last modified: October 16, 2019
This is version 191 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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