• Gene id: 1501

Gene Summary

• Gene Symbol: CTNND2   Gene   UCSC   Ensembl
• Aliases: GT24, NPRAP
• Gene name: catenin delta 2
• Alternate names: catenin delta-2, T-cell delta-catenin, catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein), neurojungin,
• Gene location: 5p15.2 (11904445: 10971835)     Exons: 26     NC_000005.10
• Gene summary(Entrez): This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens
• OMIM: 604275

Protein Summary

• Protein general information: Q9UQB3  
  • Name: Catenin delta 2 (Delta catenin) (GT24) (Neural plakophilin related ARM repeat protein) (NPRAP) (Neurojungin)
  • Length: 1225  
  • Mass: 132656
  • Tissue specificity: Expressed in brain; highest expression is observed in fetal brain (PubMed
• Sequence:

  MFARKPPGAAPLGAMPVPDQPSSASEKTSSLSPGLNTSNGDGSETETTSAILASVKEQELQFERLTRELEAERQI
  VASQLERCKLGSETGSMSSMSSAEEQFQWQSQDGQKDIEDELTTGLELVDSCIRSLQESGILDPQDYSTGERPSL
  LSQSALQLNSKPEGSFQYPASYHSNQTLALGETTPSQLPARGTQARATGQSFSQGTTSRAGHLAGPEPAPPPPPP
  PREPFAPSLGSAFHLPDAPPAAAAAALYYSSSTLPAPPRGGSPLAAPQGGSPTKLQRGGSAPEGATYAAPRGSSP
  KQSPSRLAKSYSTSSPINIVVSSAGLSPIRVTSPPTVQSTISSSPIHQLSSTIGTYATLSPTKRLVHASEQYSKH
  SQELYATATLQRPGSLAAGSRASYSSQHGHLGPELRALQSPEHHIDPIYEDRVYQKPPMRSLSQSQGDPLPPAHT
  GTYRTSTAPSSPGVDSVPLQRTGSQHGPQNAAAATFQRASYAAGPASNYADPYRQLQYCPSVESPYSKSGPALPP
  EGTLARSPSIDSIQKDPREFGWRDPELPEVIQMLQHQFPSVQSNAAAYLQHLCFGDNKIKAEIRRQGGIQLLVDL
  LDHRMTEVHRSACGALRNLVYGKANDDNKIALKNCGGIPALVRLLRKTTDLEIRELVTGVLWNLSSCDALKMPII
  QDALAVLTNAVIIPHSGWENSPLQDDRKIQLHSSQVLRNATGCLRNVSSAGEEARRRMRECDGLTDALLYVIQSA
  LGSSEIDSKTVENCVCILRNLSYRLAAETSQGQHMGTDELDGLLCGEANGKDAESSGCWGKKKKKKKSQDQWDGV
  GPLPDCAEPPKGIQMLWHPSIVKPYLTLLSECSNPDTLEGAAGALQNLAAGSWKWSVYIRAAVRKEKGLPILVEL
  LRIDNDRVVCAVATALRNMALDVRNKELIGKYAMRDLVHRLPGGNNSNNTASKAMSDDTVTAVCCTLHEVITKNM
  ENAKALRDAGGIEKLVGISKSKGDKHSPKVVKAASQVLNSMWQYRDLRSLYKKDGWSQYHFVASSSTIERDRQRP
  YSSSRTPSISPVRVSPNNRSASAPASPREMISLKERKTDYECTGSNATYHGAKGEHTSRKDAMTAQNTGISTLYR
  NSYGAPAEDIKHNQVSAQPVPQEPSRKDYETYQPFQNSTRNYDESFFEDQVHHRPPASEYTMHLGLKSTGNYVDF
  YSAARPYSELNYETSHYPASPDSWV

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR000225  IPR028435  
  • Prosite: PS50176
  • DIP: 1138
  • STRING: ENSP00000307134
• Other Databases: GeneCards:  CTNND2  Malacards:  CTNND2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0045296	cadherin binding	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0005911	cell-cell junction	IBA	cellular component
GO:0060997	dendritic spine morphogenesis	IBA	biological process
GO:0014069	postsynaptic density	IBA	cellular component
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0043204	perikaryon	IDA	cellular component
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0050808	synapse organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060828	regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0060997	dendritic spine morphogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Chromosme 5p deletion syndrome	KEGG:H00764
Chromosme 5p deletion syndrome	KEGG:H00764
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Low sperm motility	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Low sperm motility			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq