CTNND2
entrez
1501
canonical
uniprot
Q9UQB3
canonical
ensembl
ENSG00000169862
resolver
ensp
ENSP00000307134
resolver
ensp
ENSP00000421093
resolver
ensp
ENSP00000426510
resolver
ensp
ENSP00000426887
resolver
ensp
ENSP00000516315
resolver
ensp
ENSP00000624705
resolver
ensp
ENSP00000719358
resolver
enst
ENST00000503622
resolver
enst
ENST00000511377
resolver
enst
ENST00000706271
resolver
genesymbol
CTNND2
resolver
genesymbol_syn
NPRAP
resolver
hgnc
HGNC:2516
resolver
uniprot
A0A994J5V2
resolver
uniprot
B0FTZ7
resolver
uniprot
B4DJU1
resolver
uniprot
B4DRK2
resolver
uniprot
E7EPC8
resolver
uniprot
F6TPV3
resolver
uniprot
O00379
resolver
uniprot
O15390
resolver
uniprot
O43206
resolver
uniprot
O43840
resolver
uniprot
Q13589
resolver
uniprot
Q9UM66
resolver
uniprot
Q9UPM3
resolver
uniprot_entry
A0A994J5V2_HUMAN
resolver
uniprot_entry
B4DJU1_HUMAN
resolver
uniprot_entry
B4DRK2_HUMAN
resolver
uniprot_entry
CTND2_HUMAN
resolver
uniprot_entry
E7EPC8_HUMAN
resolver
uniprot_entry
F6TPV3_HUMAN
resolver
uniprot_sec
B0FTZ7
resolver
uniprot_sec
O00379
resolver
uniprot_sec
O15390
resolver
uniprot_sec
O43206
resolver
uniprot_sec
O43840
resolver
uniprot_sec
Q13589
resolver
uniprot_sec
Q9UM66
resolver
uniprot_sec
Q9UPM3
resolver
amino_acid_sequence
MFARKPPGAAPLGAMPVPDQPSSASEKTSSLSPGLNTSNGDGSETETTSAILASVKEQELQFERLTRELEAERQIVASQLERCKLGSETGSMSSMSSAEEQFQWQSQDGQKDIEDELTTGLELVDSCIRSLQESGILDPQDYSTGERPSLLSQSALQLNSKPEGSFQYPASYHSNQTLALGETTPSQLPARGTQARATGQSFSQGTTSRAGHLAGPEPAPPPPPPPREPFAPSLGSAFHLPDAPPAAAAAALYYSSSTLPAPPRGGSPLAAPQGGSPTKLQRGGSAPEGATYAAPRGSSPKQSPSRLAKSYSTSSPINIVVSSAGLSPIRVTSPPTVQSTISSSPIHQLSSTIGTYATLSPTKRLVHASEQYSKHSQELYATATLQRPGSLAAGSRASYSSQHGHLGPELRALQSPEHHIDPIYEDRVYQKPPMRSLSQSQGDPLPPAHTGTYRTSTAPSSPGVDSVPLQRTGSQHGPQNAAAATFQRASYAAGPASNYADPYRQLQYCPSVESPYSKSGPALPPEGTLARSPSIDSIQKDPREFGWRDPELPEVIQMLQHQFPSVQSNAAAYLQHLCFGDNKIKAEIRRQGGIQLLVDLLDHRMTEVHRSACGALRNLVYGKANDDNKIALKNCGGIPALVRLLRKTTDLEIRELVTGVLWNLSSCDALKMPIIQDALAVLTNAVIIPHSGWENSPLQDDRKIQLHSSQVLRNATGCLRNVSSAGEEARRRMRECDGLTDALLYVIQSALGSSEIDSKTVENCVCILRNLSYRLAAETSQGQHMGTDELDGLLCGEANGKDAESSGCWGKKKKKKKSQDQWDGVGPLPDCAEPPKGIQMLWHPSIVKPYLTLLSECSNPDTLEGAAGALQNLAAGSWKWSVYIRAAVRKEKGLPILVELLRIDNDRVVCAVATALRNMALDVRNKELIGKYAMRDLVHRLPGGNNSNNTASKAMSDDTVTAVCCTLHEVITKNMENAKALRDAGGIEKLVGISKSKGDKHSPKVVKAASQVLNSMWQYRDLRSLYKKDGWSQYHFVASSSTIERDRQRPYSSSRTPSISPVRVSPNNRSASAPASPREMISLKERKTDYECTGSNATYHGAKGEHTSRKDAMTAQNTGISTLYRNSYGAPAEDIKHNQVSAQPVPQEPSRKDYETYQPFQNSTRNYDESFFEDQVHHRPPASEYTMHLGLKSTGNYVDFYSAARPYSELNYETSHYPASPDSWV
uniprot
proteins
disease_involvement
DISEASE: Note=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 intellectual disability. {ECO:0000269|PubMed:25807484}.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000250|UniProtKB:O35927, ECO:0000269|PubMed:25807484, ECO:0000269|PubMed:9971746}.
uniprot
proteins
mass_dalton
132656
uniprot
proteins
post_translational_modification
PTM: O-glycosylated. {ECO:0000250}.; PTM: Phosphorylated by CDK5 (By similarity). Phosphorylated by GSK3B (PubMed:19706605). {ECO:0000250|UniProtKB:O35116, ECO:0000269|PubMed:19706605}.
uniprot
proteins
protein_family
Beta-catenin family
uniprot
proteins
pubmed
10037471
uniprot
proteins
pubmed
10208590
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17993462
uniprot
proteins
pubmed
19706605
uniprot
proteins
pubmed
19706687
uniprot
proteins
pubmed
22022388
uniprot
proteins
pubmed
25009281
uniprot
proteins
pubmed
25807484
uniprot
proteins
pubmed
39256359
uniprot
proteins
pubmed
9049630
uniprot
proteins
pubmed
9223106
uniprot
proteins
pubmed
9342840
uniprot
proteins
pubmed
9971746
uniprot
proteins
sequence_length
1225
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O35927}. Cell junction, adherens junction {ECO:0000250|UniProtKB:O35927}. Cell projection, dendrite {ECO:0000250|UniProtKB:O35116}. Perikaryon {ECO:0000269|PubMed:22022388}.
uniprot
proteins