Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	29119
Gene name Gene Name - the full gene name approved by the HGNC.	Catenin alpha 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CTNNA3
Synonyms (NCBI Gene) Gene synonyms aliases	ARVD13, VR22
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ARVD13
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs187752783	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs587777134	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs587777135	CAA>-	Pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant

Show/Hide all(73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT643582	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT643581	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT643580	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT643579	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT643578	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT643577	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT643576	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT643575	hsa-miR-548aa	HITS-CLIP	23824327
MIRT643574	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT643573	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT643572	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT643571	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT643570	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT442971	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT643569	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT643568	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT643567	hsa-miR-6072	HITS-CLIP	23824327
MIRT643566	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT643565	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT442974	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT442973	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT442972	hsa-miR-1295b-3p	PAR-CLIP	22100165
MIRT442971	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT442970	hsa-miR-3065-5p	PAR-CLIP	22100165
MIRT442969	hsa-miR-4470	PAR-CLIP	22100165
MIRT442968	hsa-miR-5704	PAR-CLIP	22100165
MIRT442967	hsa-miR-182-5p	PAR-CLIP	22100165
MIRT643582	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT643581	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT643580	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT643579	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT643578	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT643577	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT643576	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT643575	hsa-miR-548aa	HITS-CLIP	23824327
MIRT643574	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT643573	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT643572	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT643571	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT643570	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT442971	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT643569	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT643568	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT643567	hsa-miR-6072	HITS-CLIP	23824327
MIRT643566	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT643565	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT442974	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT442973	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT442972	hsa-miR-1295b-3p	PAR-CLIP	22100165
MIRT442971	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT442970	hsa-miR-3065-5p	PAR-CLIP	22100165
MIRT442969	hsa-miR-4470	PAR-CLIP	22100165
MIRT442968	hsa-miR-5704	PAR-CLIP	22100165
MIRT442967	hsa-miR-182-5p	PAR-CLIP	22100165
MIRT914925	hsa-miR-140-5p	CLIP-seq
MIRT914926	hsa-miR-190	CLIP-seq
MIRT914927	hsa-miR-190b	CLIP-seq
MIRT914928	hsa-miR-3545-5p	CLIP-seq
MIRT914929	hsa-miR-3622a-5p	CLIP-seq
MIRT914930	hsa-miR-3668	CLIP-seq
MIRT914931	hsa-miR-3689a-5p	CLIP-seq
MIRT914932	hsa-miR-3689b	CLIP-seq
MIRT914933	hsa-miR-3689e	CLIP-seq
MIRT914934	hsa-miR-3689f	CLIP-seq
MIRT914935	hsa-miR-4423-3p	CLIP-seq
MIRT914936	hsa-miR-4460	CLIP-seq
MIRT914937	hsa-miR-4645-3p	CLIP-seq
MIRT2510203	hsa-miR-1290	CLIP-seq
MIRT914929	hsa-miR-3622a-5p	CLIP-seq
MIRT914935	hsa-miR-4423-3p	CLIP-seq
MIRT2510203	hsa-miR-1290	CLIP-seq
MIRT914929	hsa-miR-3622a-5p	CLIP-seq
MIRT914935	hsa-miR-4423-3p	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11590244, 22190034, 23136403, 25241761, 28514442
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005912	Component	Adherens junction	IEA
GO:0005916	Component	Fascia adherens	IBA	21873635
GO:0005916	Component	Fascia adherens	IDA	11590244
GO:0007015	Process	Actin filament organization	IEA
GO:0008013	Function	Beta-catenin binding	IBA	21873635
GO:0008013	Function	Beta-catenin binding	IPI	23136403
GO:0016477	Process	Cell migration	IBA	21873635
GO:0030027	Component	Lamellipodium	IEA
GO:0045296	Function	Cadherin binding	TAS	11590244
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	IEA
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	23136403
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	23136403
GO:0090136	Process	Epithelial cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	IPI	11590244
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	23136403

MIM	HGNC	e!Ensembl
607667	2511	ENSG00000183230

Protein

UniProt ID

Q9UI47

Protein name

Catenin alpha-3 (Alpha T-catenin) (Cadherin-associated protein)

Protein function

May be involved in formation of stretch-resistant cell-cell adhesion complexes.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01044	Vinculin	17 → 334	Vinculin family	Family
PF01044	Vinculin	328 → 856	Vinculin family	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle. {ECO:0000269|PubMed:11590244}.

Sequence

MSAETPITLNIDPQDLQVQTFTVEKLLEPLIIQVTTLVNCPQNPSSRKKGRSKRASVLLA
SVEEATWNLLDKGEKIAQEATVLKDELTASLEEVRKESEALKVSAERFTDDPCFLPKREA
VVQAARALLAAVTRLLILADMIDVMCLLQHVSAFQRTFESLKNVANKSDLQKTYQKLGKE
LENLDYLAFKRQQDLKSPNQRDEIAGARASLKENSPLLHSICSACLEHSDVASLKASKDT
VCEEIQNALNVISNASQGIQNMTTPPEPQAATLGSALDELENLIVLNPLTVTEEEIRPSL
EKRLEAIISGAALLADSSCTRDLHRERIIAECNAIRQALQDLLSEYMNNAGKKERSNTLN
IALDNMCKKTRDLRRQLRKAIIDHVSDSFLDTTVPLLVLIEAAKNGREKEIKEYAAIFHE
HTSRLVEVANLACSMSTNEDGIKIVKIAANHLETLCPQIINAALALAARPKSQAVKNTME
MYKRTWENHIHVLTEAVDDITSIDDFLAVSESHILEDVNKCIIALRDQDADNLDRAAGAI
RGRAARVAHIVTGEMDSYEPGAYTEGVMRNVNFLTSTVIPEFVTQVNVALEALSKSSLNV
LDDNQFVDISKKIYDTIHDIRCSVMMIRTPEELEDVSDLEEEHEVRSHTSIQTEGKTDRA
KMTQLPEAEKEKIAEQVADFKKVKSKLDAEIEIWDDTSNDIIVLAKNMCMIMMEMTDFTR
GKGPLKHTTDVIYAAKMISESGSRMDVLARQIANQCPDPSCKQDLLAYLEQIKFYSHQLK
ICSQVKAEIQNLGGELIMSALDSVTSLIQAAKNLMNAVVQTVKMSYIASTKIIRIQSPAG
PRHPVVMWRMKAPAKKPLIKREKPEETCAAVRRGSAKKKIHPLQVMSEFRGRQIY

Sequence length

895

Interactions

View interactions

	KEGG
	Hippo signaling pathway Adherens junction Leukocyte transendothelial migration Bacterial invasion of epithelial cells Pathways in cancer Endometrial cancer Gastric cancer Arrhythmogenic right ventricular cardiomyopathy

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form, Familial isolated arrhythmogenic ventricular dysplasia, biventricular form, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	rs63750743, rs121434420, rs121434421, rs193922674, rs111517471, rs137854613, rs113994177, rs121913006, rs121913008, rs121913011, rs121913003, rs121912992, rs397514041, rs386134243, rs193922672 View all (219 more)	23136403
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	17660530
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	17052657
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	23358160, 31374203
Tremor	Essential Tremor	rs387907274, rs763485258, rs551348450	27797806
Ventricular tachycardia	Tachycardia, Ventricular	rs137853228, rs397517025, rs199473373, rs727504432, rs1450434935, rs1592847299

Show/Hide Unknown Diseases (17)

Disease term	Disease name	Evidence	References	Source
Unknown
Asthma	Asthma		19187332	ClinVar
Mental depression	Major Depressive Disorder		29662059	ClinVar
Ventricular Cardiomyopathy	arrhythmogenic right ventricular cardiomyopathy			GenCC
Congenital Heart Disease	congenital heart disease			GenCC
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Neuroticism	Neuroticism			GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Dental caries	Dental caries			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Rheumatic Heart Disease	Rheumatic Heart Disease			GWAS
Tracheoesophageal fistula	Tracheoesophageal fistula			GWAS
Astrocytoma	Astrocytoma			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Restless Legs Syndrome	Restless Legs Syndrome			GWAS
Insomnia	Insomnia			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Associate	27765635
Alcoholism	Associate	24890784
Alzheimer Disease	Associate	14559775, 16199552, 17209133, 23978990
Aortic Aneurysm Thoracic	Associate	34469433
Apraxias	Associate	22738016
Arrhythmias Cardiac	Associate	33497884
Arrhythmogenic Right Ventricular Dysplasia	Associate	25837155, 33497884
Arrhythmogenic Right Ventricular Dysplasia	Inhibit	35628349
Asthma	Associate	22977168, 26073756
Asthma Occupational	Associate	22977168
Atrial Fibrillation	Associate	31539150
Autistic Disorder	Associate	22738016, 25574603
Cardiomyopathy Dilated	Associate	25837155
Cardiomyopathy Dilated	Inhibit	28934278
Cytomegalovirus Infections	Associate	23358160, 25781172
Dementia	Associate	35327643
Diabetes Mellitus Type 2	Associate	34717601
Epilepsy Rolandic	Associate	22738016
Essential Tremor	Associate	27797806, 28801652
Heart Defects Congenital	Associate	28472932
Inflammation	Associate	30420678
Laminopathies	Associate	25837155
Laryngeal Neoplasms	Associate	24100690
Metabolic Syndrome	Associate	26507551, 30781968
Multiple Sclerosis	Associate	20546594, 31170158
Muscular Diseases	Associate	30420678
Myositis	Associate	30420678
Neoplasms	Inhibit	24100690, 27765635
Neoplasms	Associate	36446043
Nerve Sheath Neoplasms	Associate	27765635
Neurilemmoma	Associate	27765635
Neurofibroma	Associate	27765635
Radiation induced meningioma	Associate	21364586
Retinal Degeneration	Associate	34717601
Rhabdomyosarcoma Alveolar	Associate	36951526
Sick Sinus Syndrome	Associate	33914752
Squamous Cell Carcinoma of Head and Neck	Associate	24100690
Status Asthmaticus	Associate	26073756

CTNNA3 (catenin alpha 3)