• Gene id: 29119

Gene Summary

• Gene Symbol: CTNNA3   Gene   UCSC   Ensembl
• Aliases: ARVD13, VR22
• Gene name: catenin alpha 3
• Alternate names: catenin alpha-3, alpha-T-catenin, alpha-catenin-like protein, catenin (cadherin-associated protein), alpha 3,
• Gene location: 10q21.3 (67696216: 65912517)     Exons: 27     NC_000010.11
• Gene summary(Entrez): This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alte
• OMIM: 607667

Protein Summary

• Protein general information: Q9UI47  
  • Name: Catenin alpha 3 (Alpha T catenin) (Cadherin associated protein)
  • Length: 895  
  • Mass: 99809
  • Tissue specificity: Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle. {ECO
• Sequence:

  MSAETPITLNIDPQDLQVQTFTVEKLLEPLIIQVTTLVNCPQNPSSRKKGRSKRASVLLASVEEATWNLLDKGEK
  IAQEATVLKDELTASLEEVRKESEALKVSAERFTDDPCFLPKREAVVQAARALLAAVTRLLILADMIDVMCLLQH
  VSAFQRTFESLKNVANKSDLQKTYQKLGKELENLDYLAFKRQQDLKSPNQRDEIAGARASLKENSPLLHSICSAC
  LEHSDVASLKASKDTVCEEIQNALNVISNASQGIQNMTTPPEPQAATLGSALDELENLIVLNPLTVTEEEIRPSL
  EKRLEAIISGAALLADSSCTRDLHRERIIAECNAIRQALQDLLSEYMNNAGKKERSNTLNIALDNMCKKTRDLRR
  QLRKAIIDHVSDSFLDTTVPLLVLIEAAKNGREKEIKEYAAIFHEHTSRLVEVANLACSMSTNEDGIKIVKIAAN
  HLETLCPQIINAALALAARPKSQAVKNTMEMYKRTWENHIHVLTEAVDDITSIDDFLAVSESHILEDVNKCIIAL
  RDQDADNLDRAAGAIRGRAARVAHIVTGEMDSYEPGAYTEGVMRNVNFLTSTVIPEFVTQVNVALEALSKSSLNV
  LDDNQFVDISKKIYDTIHDIRCSVMMIRTPEELEDVSDLEEEHEVRSHTSIQTEGKTDRAKMTQLPEAEKEKIAE
  QVADFKKVKSKLDAEIEIWDDTSNDIIVLAKNMCMIMMEMTDFTRGKGPLKHTTDVIYAAKMISESGSRMDVLAR
  QIANQCPDPSCKQDLLAYLEQIKFYSHQLKICSQVKAEIQNLGGELIMSALDSVTSLIQAAKNLMNAVVQTVKMS
  YIASTKIIRIQSPAGPRHPVVMWRMKAPAKKPLIKREKPEETCAAVRRGSAKKKIHPLQVMSEFRGRQIY

• Structural information:
  • Interpro: IPR036723  IPR001033  IPR030044  IPR006077  
  • STRING: ENSP00000389714
• Other Databases: GeneCards:  CTNNA3  Malacards:  CTNNA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005912	adherens junction	IEA	cellular component
GO:0045296	cadherin binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
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:0098609	cell-cell adhesion	IEA	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005916	fascia adherens	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0086073	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005916	fascia adherens	IDA	cellular component
GO:0045296	cadherin binding	TAS	molecular function
GO:0098609	cell-cell adhesion	IPI	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04390	Hippo signaling pathway
hsa05226	Gastric cancer
hsa04670	Leukocyte transendothelial migration
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05100	Bacterial invasion of epithelial cells
hsa04520	Adherens junction
hsa05213	Endometrial cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R