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Protein

Catenin delta-2

Gene

CTNND2

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

Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.By similarity2 Publications

<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

  • beta-catenin binding Source: UniProtKB
  • cadherin binding Source: GO_Central

GO - Biological processi

  • cell adhesion Source: ProtInc
  • cell-cell adhesion Source: GO_Central
  • cell-cell junction assembly Source: GO_Central
  • dendritic spine morphogenesis Source: UniProtKB
  • regulation of canonical Wnt signaling pathway Source: UniProtKB
  • signal transduction Source: ProtInc
  • synapse organization Source: UniProtKB
  • Wnt signaling pathway Source: UniProtKB-KW

<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

Molecular functionDevelopmental protein
Biological processCell adhesion, Transcription, Transcription regulation, Wnt signaling pathway

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q9UQB3

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9UQB3

<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:
Catenin delta-2
Alternative name(s):
Delta-catenin
GT24
Neural plakophilin-related ARM-repeat protein
Short name:
NPRAP
Neurojungin
<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:CTNND2
Synonyms:NPRAP
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000169862.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2516 CTNND2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604275 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UQB3

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Nucleus

<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

Defects in CTNND2, including deleterious missense and copy number variants (CNVs) are involved in autism, a 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.1 Publication

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1501

MalaCards human disease database

More...
MalaCardsi
CTNND2

Open Targets

More...
OpenTargetsi
ENSG00000169862

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

More...
Orphaneti
86814 Benign adult familial myoclonic epilepsy
281 Monosomy 5p

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27017

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CTNND2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
84028193

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000642991 – 1225Catenin delta-2Add BLAST1225

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei209Omega-N-methylarginineBy similarity1
Modified residuei264Omega-N-methylarginineBy similarity1
Modified residuei267PhosphoserineBy similarity1
Modified residuei276PhosphoserineBy similarity1
Modified residuei282Omega-N-methylarginineBy similarity1
Modified residuei296Omega-N-methylarginineBy similarity1
Modified residuei327PhosphoserineBy similarity1
Modified residuei360PhosphoserineBy similarity1
Modified residuei415PhosphoserineBy similarity1
Modified residuei461PhosphoserineBy similarity1
Modified residuei514PhosphoserineBy similarity1
Modified residuei516PhosphotyrosineBy similarity1
Modified residuei1065PhosphoserineBy similarity1
Modified residuei1076PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

O-glycosylated.By similarity
Phosphorylated by CDK5 (By similarity). Phosphorylated by GSK3B (PubMed:19706605).By similarity1 Publication

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UQB3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UQB3

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

More...
PaxDbi
Q9UQB3

PeptideAtlas

More...
PeptideAtlasi
Q9UQB3

PRoteomics IDEntifications database

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PRIDEi
Q9UQB3

ProteomicsDB human proteome resource

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ProteomicsDBi
85530
85531 [Q9UQB3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UQB3

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

More...
PhosphoSitePlusi
Q9UQB3

<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

Expressed in brain; highest expression is observed in fetal brain (PubMed:25807484).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000169862 Expressed in 152 organ(s), highest expression level in dorsolateral prefrontal cortex

CleanEx database of gene expression profiles

More...
CleanExi
HS_CTNND2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UQB3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UQB3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB037339
HPA015077

<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

Binds to E-cadherin at a juxtamembrane site within the cytoplasmic domain (By similarity). Interacts with PDZD2 (By similarity). Interacts with ZBTB33 (By similarity). Binds to PSEN1 (PubMed:10037471) (PubMed:10208590) (PubMed:9223106). Interacts with ARHGEF28 (PubMed:17993462). Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain) (PubMed:19706687). Interacts with CDK5 (By similarity). Interacts with CTNNB1 (PubMed:25807484). Interacts with GSK3A and GSK3B (PubMed:19706605). Interacts with DNM2 (PubMed:22022388).By similarity8 Publications

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107882, 9 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UQB3

Database of interacting proteins

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DIPi
DIP-1138N

Protein interaction database and analysis system

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IntActi
Q9UQB3, 7 interactors

Molecular INTeraction database

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MINTi
Q9UQB3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000307134

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9UQB3

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

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SMRi
Q9UQB3

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati394 – 438ARM 1Add BLAST45
Repeati540 – 579ARM 2Add BLAST40
Repeati582 – 621ARM 3Add BLAST40
Repeati626 – 666ARM 4Add BLAST41
Repeati682 – 724ARM 5Add BLAST43
Repeati728 – 773ARM 6Add BLAST46
Repeati835 – 875ARM 7Add BLAST41
Repeati882 – 921ARM 8Add BLAST40
Repeati975 – 1018ARM 9Add BLAST44

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili49 – 84Sequence analysisAdd BLAST36

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi216 – 226Poly-ProAdd BLAST11
Compositional biasi811 – 817Poly-Lys7

<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 beta-catenin family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1048 Eukaryota
ENOG410Y21Q LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154952

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004284

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UQB3

Identification of Orthologs from Complete Genome Data

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OMAi
SYADPYR

Database of Orthologous Groups

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OrthoDBi
233858at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UQB3

TreeFam database of animal gene trees

More...
TreeFami
TF321877

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR028435 Plakophilin/d_Catenin

The PANTHER Classification System

More...
PANTHERi
PTHR10372 PTHR10372, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00514 Arm, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00185 ARM, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50176 ARM_REPEAT, 3 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>.<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.

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
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UQB3-1) [UniParc]FASTAAdd to basket
Also known as: NPRAPa

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
MFARKPPGAA PLGAMPVPDQ PSSASEKTSS LSPGLNTSNG DGSETETTSA
60 70 80 90 100
ILASVKEQEL QFERLTRELE AERQIVASQL ERCKLGSETG SMSSMSSAEE
110 120 130 140 150
QFQWQSQDGQ KDIEDELTTG LELVDSCIRS LQESGILDPQ DYSTGERPSL
160 170 180 190 200
LSQSALQLNS KPEGSFQYPA SYHSNQTLAL GETTPSQLPA RGTQARATGQ
210 220 230 240 250
SFSQGTTSRA GHLAGPEPAP PPPPPPREPF APSLGSAFHL PDAPPAAAAA
260 270 280 290 300
ALYYSSSTLP APPRGGSPLA APQGGSPTKL QRGGSAPEGA TYAAPRGSSP
310 320 330 340 350
KQSPSRLAKS YSTSSPINIV VSSAGLSPIR VTSPPTVQST ISSSPIHQLS
360 370 380 390 400
STIGTYATLS PTKRLVHASE QYSKHSQELY ATATLQRPGS LAAGSRASYS
410 420 430 440 450
SQHGHLGPEL RALQSPEHHI DPIYEDRVYQ KPPMRSLSQS QGDPLPPAHT
460 470 480 490 500
GTYRTSTAPS SPGVDSVPLQ RTGSQHGPQN AAAATFQRAS YAAGPASNYA
510 520 530 540 550
DPYRQLQYCP SVESPYSKSG PALPPEGTLA RSPSIDSIQK DPREFGWRDP
560 570 580 590 600
ELPEVIQMLQ HQFPSVQSNA AAYLQHLCFG DNKIKAEIRR QGGIQLLVDL
610 620 630 640 650
LDHRMTEVHR SACGALRNLV YGKANDDNKI ALKNCGGIPA LVRLLRKTTD
660 670 680 690 700
LEIRELVTGV LWNLSSCDAL KMPIIQDALA VLTNAVIIPH SGWENSPLQD
710 720 730 740 750
DRKIQLHSSQ VLRNATGCLR NVSSAGEEAR RRMRECDGLT DALLYVIQSA
760 770 780 790 800
LGSSEIDSKT VENCVCILRN LSYRLAAETS QGQHMGTDEL DGLLCGEANG
810 820 830 840 850
KDAESSGCWG KKKKKKKSQD QWDGVGPLPD CAEPPKGIQM LWHPSIVKPY
860 870 880 890 900
LTLLSECSNP DTLEGAAGAL QNLAAGSWKW SVYIRAAVRK EKGLPILVEL
910 920 930 940 950
LRIDNDRVVC AVATALRNMA LDVRNKELIG KYAMRDLVHR LPGGNNSNNT
960 970 980 990 1000
ASKAMSDDTV TAVCCTLHEV ITKNMENAKA LRDAGGIEKL VGISKSKGDK
1010 1020 1030 1040 1050
HSPKVVKAAS QVLNSMWQYR DLRSLYKKDG WSQYHFVASS STIERDRQRP
1060 1070 1080 1090 1100
YSSSRTPSIS PVRVSPNNRS ASAPASPREM ISLKERKTDY ECTGSNATYH
1110 1120 1130 1140 1150
GAKGEHTSRK DAMTAQNTGI STLYRNSYGA PAEDIKHNQV SAQPVPQEPS
1160 1170 1180 1190 1200
RKDYETYQPF QNSTRNYDES FFEDQVHHRP PASEYTMHLG LKSTGNYVDF
1210 1220
YSAARPYSEL NYETSHYPAS PDSWV
Length:1,225
Mass (Da):132,656
Last modified:December 20, 2005 - v3
<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:i4A24ACC3E22BFE83
GO
Isoform 2 (identifier: Q9UQB3-2) [UniParc]FASTAAdd to basket
Also known as: NPRAPc

The sequence of this isoform differs from the canonical sequence as follows:
     823-880: Missing.

Show »
Length:1,167
Mass (Da):126,529
Checksum:iDE45985C1B006DFA
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PHB5E9PHB5_HUMAN
Catenin delta-2
CTNND2
912Annotation 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>
E7EPC8E7EPC8_HUMAN
Catenin delta-2
CTNND2
1,134Annotation 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>
B4DRK2B4DRK2_HUMAN
cDNA FLJ56233, highly similar to Ca...
CTNND2
888Annotation 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>
D6RHE9D6RHE9_HUMAN
Catenin delta-2
CTNND2
231Annotation 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>
D6RC65D6RC65_HUMAN
Catenin delta-2
CTNND2
209Annotation 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>
D6RBA8D6RBA8_HUMAN
Catenin delta-2
CTNND2
169Annotation 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>
D6R9A8D6R9A8_HUMAN
Catenin delta-2
CTNND2
320Annotation 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>
D6RF55D6RF55_HUMAN
Catenin delta-2
CTNND2
181Annotation 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 AAB68599 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAB88185 differs from that shown. Reason: Frameshift at position 913.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti426D → V in AAC63103 (PubMed:9223106).Curated1
Sequence conflicti443D → V in AAC63103 (PubMed:9223106).Curated1
Sequence conflicti725A → P in AAC63103 (PubMed:9223106).Curated1
Sequence conflicti894L → R in AAC63103 (PubMed:9223106).Curated1
Sequence conflicti894L → R in AAB96357 (PubMed:9049630).Curated1
Sequence conflicti909V → A in AAC63103 (PubMed:9223106).Curated1
Sequence conflicti909V → A in AAB96357 (PubMed:9049630).Curated1
Sequence conflicti980A → G in AAB97957 (PubMed:9342840).Curated1
Sequence conflicti1102A → G in AAD00453 (PubMed:10037471).Curated1
Sequence conflicti1102A → G in AAB68599 (Ref. 9) Curated1

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_07338734G → S Probable disease-associated mutation found in autism; hypomorphic mutation affecting dendritic spines development and maintenance; results in reduced interaction with CTNNB1. 1 PublicationCorresponds to variant dbSNP:rs151129181Ensembl.1
Natural variantiVAR_073388189P → L Probable disease-associated mutation found in autism; hypomorphic mutation affecting Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs149573037Ensembl.1
Natural variantiVAR_073389224P → L Probable disease-associated mutation found in autism; hypomorphic mutation affecting Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs769623284EnsemblClinVar.1
Natural variantiVAR_062270275G → C Found in patients with autism; unknown pathological significance; has no effect on Wnt signaling. 2 PublicationsCorresponds to variant dbSNP:rs61749844Ensembl.1
Natural variantiVAR_073390330R → H Polymorphism; has no effect on Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs199506424Ensembl.1
Natural variantiVAR_073391454R → H Probable disease-associated mutation found in autism; hypomorphic mutation affecting Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs750266236Ensembl.1
Natural variantiVAR_073392465D → N Polymorphism; has no effect on Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs200377770Ensembl.1
Natural variantiVAR_062271482A → T Polymorphism; has no effect on Wnt signaling. 2 PublicationsCorresponds to variant dbSNP:rs61750706Ensembl.1
Natural variantiVAR_073393507Q → P Probable disease-associated mutation found in autism; hypomorphic mutation affecting Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs142843736EnsemblClinVar.1
Natural variantiVAR_073394713R → C Probable disease-associated mutation found in autism; loss-of-function mutation affecting dendritic spines development and maintenance; results in reduced interaction with CTNNB1. 1 PublicationCorresponds to variant dbSNP:rs768575356Ensembl.1
Natural variantiVAR_062272810G → R Polymorphism; has no effect on Wnt signaling. 2 PublicationsCorresponds to variant dbSNP:rs61754599Ensembl.1
Natural variantiVAR_073395862T → M Found in patients with autism; unknown pathological significance; has no effect on Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs773517967Ensembl.1
Natural variantiVAR_0361621159P → S in a colorectal cancer sample; somatic mutation. 1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006746823 – 880Missing in isoform 2. CuratedAdd BLAST58

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
U96136 mRNA Translation: AAC63103.1
AB013805 mRNA Translation: BAA36163.1
AC003089 Genomic DNA Translation: AAB83940.1
EU350953 Genomic DNA Translation: ABY59658.1
AC003954 Genomic DNA No translation available.
AC004633 Genomic DNA No translation available.
AC004648 Genomic DNA No translation available.
AC005367 Genomic DNA No translation available.
AC005610 Genomic DNA No translation available.
AC010433 Genomic DNA No translation available.
AC010626 Genomic DNA No translation available.
AC113390 Genomic DNA No translation available.
AC127460 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08053.1
U81004 mRNA Translation: AAD00453.1
U52351 mRNA Translation: AAB97957.1
U72665 mRNA Translation: AAB68599.1 Different initiation.
AF035302 mRNA Translation: AAB88185.1 Frameshift.
U52828 mRNA Translation: AAB96357.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3881.1 [Q9UQB3-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001275644.1, NM_001288715.1
NP_001275645.1, NM_001288716.1
NP_001275646.1, NM_001288717.1
NP_001323.1, NM_001332.3 [Q9UQB3-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.314543

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000304623; ENSP00000307134; ENSG00000169862 [Q9UQB3-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1501

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1501

UCSC genome browser

More...
UCSCi
uc003jfa.3 human [Q9UQB3-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U96136 mRNA Translation: AAC63103.1
AB013805 mRNA Translation: BAA36163.1
AC003089 Genomic DNA Translation: AAB83940.1
EU350953 Genomic DNA Translation: ABY59658.1
AC003954 Genomic DNA No translation available.
AC004633 Genomic DNA No translation available.
AC004648 Genomic DNA No translation available.
AC005367 Genomic DNA No translation available.
AC005610 Genomic DNA No translation available.
AC010433 Genomic DNA No translation available.
AC010626 Genomic DNA No translation available.
AC113390 Genomic DNA No translation available.
AC127460 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08053.1
U81004 mRNA Translation: AAD00453.1
U52351 mRNA Translation: AAB97957.1
U72665 mRNA Translation: AAB68599.1 Different initiation.
AF035302 mRNA Translation: AAB88185.1 Frameshift.
U52828 mRNA Translation: AAB96357.1
CCDSiCCDS3881.1 [Q9UQB3-1]
RefSeqiNP_001275644.1, NM_001288715.1
NP_001275645.1, NM_001288716.1
NP_001275646.1, NM_001288717.1
NP_001323.1, NM_001332.3 [Q9UQB3-1]
UniGeneiHs.314543

3D structure databases

ProteinModelPortaliQ9UQB3
SMRiQ9UQB3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107882, 9 interactors
CORUMiQ9UQB3
DIPiDIP-1138N
IntActiQ9UQB3, 7 interactors
MINTiQ9UQB3
STRINGi9606.ENSP00000307134

PTM databases

iPTMnetiQ9UQB3
PhosphoSitePlusiQ9UQB3

Polymorphism and mutation databases

BioMutaiCTNND2
DMDMi84028193

Proteomic databases

EPDiQ9UQB3
jPOSTiQ9UQB3
PaxDbiQ9UQB3
PeptideAtlasiQ9UQB3
PRIDEiQ9UQB3
ProteomicsDBi85530
85531 [Q9UQB3-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1501
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304623; ENSP00000307134; ENSG00000169862 [Q9UQB3-1]
GeneIDi1501
KEGGihsa:1501
UCSCiuc003jfa.3 human [Q9UQB3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1501
DisGeNETi1501
EuPathDBiHostDB:ENSG00000169862.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CTNND2
HGNCiHGNC:2516 CTNND2
HPAiCAB037339
HPA015077
MalaCardsiCTNND2
MIMi604275 gene
neXtProtiNX_Q9UQB3
OpenTargetsiENSG00000169862
Orphaneti86814 Benign adult familial myoclonic epilepsy
281 Monosomy 5p
PharmGKBiPA27017

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1048 Eukaryota
ENOG410Y21Q LUCA
GeneTreeiENSGT00940000154952
HOVERGENiHBG004284
InParanoidiQ9UQB3
OMAiSYADPYR
OrthoDBi233858at2759
PhylomeDBiQ9UQB3
TreeFamiTF321877

Enzyme and pathway databases

SignaLinkiQ9UQB3
SIGNORiQ9UQB3

Miscellaneous databases

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

More...
ChiTaRSi
CTNND2 human

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

More...
GenomeRNAii
1501

Protein Ontology

More...
PROi
PR:Q9UQB3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169862 Expressed in 152 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_CTNND2
ExpressionAtlasiQ9UQB3 baseline and differential
GenevisibleiQ9UQB3 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR028435 Plakophilin/d_Catenin
PANTHERiPTHR10372 PTHR10372, 1 hit
PfamiView protein in Pfam
PF00514 Arm, 4 hits
SMARTiView protein in SMART
SM00185 ARM, 7 hits
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50176 ARM_REPEAT, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiCTND2_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: Q9UQB3
Secondary accession number(s): B0FTZ7
, O00379, O15390, O43206, O43840, Q13589, Q9UM66, Q9UPM3
<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: April 16, 2002
Last sequence update: December 20, 2005
Last modified: January 16, 2019
This is version 159 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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