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CTNNA3 (catenin alpha 3)
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 nameGene Name - the full gene name approved by the HGNC.
Catenin alpha 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CTNNA3
SynonymsGene synonyms aliases
ARVD13, VR22
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q21.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence 
MSAETPITLNIDPQDLQVQTFTVEKLLEPLIIQVTTLVNCPQNPSSRKKGRSKRASVLLA
SVEEATWNLLDKGEKIAQEATVLKDELTASLEEVRKESEALKVSAERFTDDPCFLPKREA
VVQAARALLAAVTRLLILADMIDVMCLLQHVSAFQRTFESLKNVANKSDLQKTYQKLGKE
LENLDYLAFKRQQDLKSPNQRDEIAGARASLKENSPLLHSICSACLEHSDVASLKASKDT
VCEEIQNALNVISNASQGIQNMTTPPEPQAATLGSALDELENLIVLNPLTVTEEEIRPSL
EKRLEAIISGAALLADSSCTRDLHRERIIAECNAIRQALQDLLSEYMNNAGKKERSNTLN
IALDNMCKKTRDLRRQLRKAIIDHVSDSFLDTTVPLLVLIEAAKNGREKEIKEYAAIFHE
HTSRLVEVANLACSMSTNEDGIKIVKIAANHLETLCPQIINAALALAARPKSQAVKNTME
MYKRTWENHIHVLTEAVDDITSIDDFLAVSESHILEDVNKCIIALRDQDADNLDRAAGAI
RGRAARVAHIVTGEMDSYEPGAYTEGVMRNVNFLTSTVIPEFVTQVNVALEALSKSSLNV
LDDNQFVDISKKIYDTIHDIRCSVMMIRTPEELEDVSDLEEEHEVRSHTSIQTEGKTDRA
KMTQLPEAEKEKIAEQVADFKKVKSKLDAEIEIWDDTSNDIIVLAKNMCMIMMEMTDFTR
GKGPLKHTTDVIYAAKMISESGSRMDVLARQIANQCPDPSCKQDLLAYLEQIKFYSHQLK
ICSQVKAEIQNLGGELIMSALDSVTSLIQAAKNLMNAVVQTVKMSYIASTKIIRIQSPAG
PRHPVVMWRMKAPAKKPLIKREKPEETCAAVRRGSAKKKIHPLQVMSEFRGRQIY
Sequence length 895
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
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 		 
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
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, rs193922673, rs397515925, rs397516712, rs397516784, rs397516913, rs397516915, rs397516919, rs397516923, rs397516929, rs397516932, rs397516933, rs397516940, rs397516943, rs397516946, rs397516955, rs397516986, rs397516987, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516996, rs397516997, rs397517001, rs397517003, rs397517005, rs397517008, rs397517009, rs397517010, rs397517012, rs397517013, rs397517015, rs397517017, rs397517021, rs397517022, rs397517025, rs397517030, rs397517393, rs587777134, rs587777135, rs140474226, rs145476705, rs727504443, rs727505077, rs727505260, rs727505271, rs727504786, rs727504430, rs727504432, rs727502993, rs730880082, rs730880092, rs786204393, rs786204392, rs786204389, rs786204388, rs786205476, rs786205353, rs760576804, rs794728708, rs397516510, rs794728137, rs794728111, rs1554108152, rs767643821, rs770873593, rs794728146, rs777573018, rs794728130, rs794728072, rs794728083, rs794728094, rs794728098, rs794729098, rs794729116, rs794729130, rs764817683, rs751288871, rs201405287, rs794729129, rs794729128, rs78897684, rs794729127, rs794729137, rs794729126, rs794729125, rs762103704, rs794729133, rs766209297, rs794729124, rs754912778, rs772220644, rs767987619, rs794729122, rs769220833, rs794729103, rs794729132, rs774663443, rs763639737, rs794729120, rs794729107, rs869025392, rs869025395, rs869025496, rs876657638, rs876657659, rs878853170, rs878854710, rs886039178, rs1114167345, rs886041322, rs781532110, rs1057517903, rs778178956, rs1060499940, rs1060500618, rs1060500607, rs1060500613, rs1064792927, rs1064792929, rs1064792928, rs1060501184, rs1060501186, rs1060501182, rs1555143134, rs750176752, rs1060502989, rs1064794350, rs1555142963, rs1064793231, rs1064796069, rs1064795963, rs758282201, rs1064793983, rs727505038, rs1554108410, rs1555143143, rs1555148271, rs1555149952, rs762288961, rs958681660, rs1555671201, rs1555627108, rs1554108287, rs1554105911, rs1554107839, rs1554107916, rs1554108610, rs1353074803, rs1555149975, rs1555145509, rs1425855043, rs1555639134, rs1555671441, rs763303290, rs878898365, rs1555142994, rs1555640399, rs1238227166, rs1555148032, rs1555144459, rs1555147210, rs1555148011, rs1555148035, rs1486464304, rs1554108929, rs1555142984, rs1453983744, rs1555145520, rs746173561, rs1555142971, rs1555148259, rs1555637555, rs1373300155, rs1554108477, rs1236464864, rs1555148048, rs1394836623, rs1561703922, rs113726158, rs1565599473, rs1565586921, rs1565586958, rs769022411, rs1568098570, rs1567933176, rs1375081885, rs1568105371, rs1039633976, rs1561703331, rs1565574709, rs766450773, rs1592729525, rs762753884, rs1598572298, rs759944835, rs1598810829, rs1581817513, rs1591828796, rs775256998, rs763907170, rs1187924885, rs1592738654, rs745457570, rs1581799453, rs1581816089, rs1318070848, rs1598592533, rs1435125402, rs1758912749, rs1464886350, rs1956192035, rs1396519956, rs930283260, rs1957127435, rs1987170019, rs752522753, rs2035287906 23136403
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 19187332
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 17660530
Parkinson disease Parkinson Disease rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 17052657
Unknown
Disease name Disease term dbSNP ID References
Bronchopulmonary dysplasia Bronchopulmonary Dysplasia 23897914
Bundle branch block Bundle-Branch Block
Lung diseases Lung Diseases, Interstitial 23583980
Mental depression Major Depressive Disorder rs587778876, rs587778877 29662059

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