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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	29119
Gene name	Catenin alpha 3
Gene symbol	CTNNA3
Synonyms (NCBI Gene)	ARVD13VR22
Chromosome	10
Chromosome location	10q21.3
Summary	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 (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11590244, 22190034, 23136403, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0005916	Component	Fascia adherens	IBA
GO:0005916	Component	Fascia adherens	IDA	11590244
GO:0005916	Component	Fascia adherens	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IPI	23136403
GO:0016477	Process	Cell migration	IBA
GO:0030027	Component	Lamellipodium	IEA
GO:0030057	Component	Desmosome	IEA
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	TAS	11590244
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0070161	Component	Anchoring junction	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:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
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

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

756

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arrhythmogenic right ventricular cardiomyopathy	Pathogenic	rs587777135	RCV000487676
Arrhythmogenic right ventricular dysplasia 13	Pathogenic; Likely pathogenic	rs587777134, rs587777135, rs2493164118	RCV000087056 RCV000087057 RCV003334464
Long QT syndrome	Likely pathogenic	rs2492219063	RCV003318462
Malignant tumor of urinary bladder	Likely pathogenic	rs759618368	RCV002276252

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs61749224	RCV005893720
Congenital heart disease	Conflicting classifications of pathogenicity; Uncertain significance	rs370269225, rs768797369, rs776250185	RCV005361600 RCV005356305 RCV005359977
CTNNA3-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs140926333, rs769116433, rs372258059, rs745959148, rs41313840, rs377404952, rs141983252, rs149211186, rs2081723295, rs2492643770, rs768710407, rs61737718, rs74142830, rs752481842, rs146754105 View all (11 more)	RCV004754756 RCV003407928 RCV004754834 RCV003951059 RCV004754311 RCV003967558 RCV003929984 RCV003406264 RCV003404474 RCV003982652 RCV003949338 RCV003972787 RCV003925361 RCV003960083 RCV003409628 RCV003972786 RCV004754443 RCV004754442 RCV004754438 RCV004754469 RCV004754470 RCV004754566 RCV003928341 RCV003948056 RCV003938433 RCV003918777
Gastric cancer	Benign	rs77409659, rs61749224	RCV005922075 RCV005893722
Hepatocellular carcinoma	Benign	rs61749224	RCV005893718
Left ventricular noncompaction cardiomyopathy	Uncertain significance	rs730880073, rs755323657	RCV000157162 RCV000208145
Lung cancer	Benign	rs61749224	RCV005893726
Malignant tumor of esophagus	Benign	rs61749224	RCV005893719
Melanoma	Benign	rs61749224	RCV005893725
Ovarian serous cystadenocarcinoma	Benign	rs61749224	RCV005893723
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs587782935, rs41313840, rs730880070, rs869025379, rs199697536	RCV000143876 RCV000143877 RCV000157157 RCV000208198 RCV000208044
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs202196166, rs730880072, rs147116577, rs751471841, rs201306690	RCV000157161 RCV000157160 RCV000157159 RCV000208397 RCV000208496
Sarcoma	Benign	rs61749224	RCV005893721
Squamous cell carcinoma of the head and neck	Benign	rs61749224	RCV005893717
Thymoma	Benign	rs61749224	RCV005893724
Uterine carcinosarcoma	Benign	rs7907928	RCV005922932
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	rs77409659, rs372808360	RCV005922076 RCV005893751

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)