CTNNA2 (catenin alpha 2)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1496
Gene name Gene Name - the full gene name approved by the HGNC.
Catenin alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTNNA2
Synonyms (NCBI Gene) Gene synonyms aliases
CAP-R, CAPR, CDCBM9, CT114, CTNR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDCBM9
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p12
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs760139097 C>T Pathogenic Stop gained, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs778294237 C>T Pathogenic Coding sequence variant, stop gained
rs1413537928 C>T Pathogenic Stop gained, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT914920 hsa-miR-548p CLIP-seq
MIRT914921 hsa-miR-3646 CLIP-seq
MIRT914922 hsa-miR-3662 CLIP-seq
MIRT914923 hsa-miR-451b CLIP-seq
MIRT914924 hsa-miR-509-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton NAS 8432524
GO:0005515 Function Protein binding IPI 16182284
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 16182284
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
114025 2510 ENSG00000066032
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID P26232
Protein name Catenin alpha-2 (Alpha N-catenin) (Alpha-catenin-related protein)
Protein function May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system (By similarity). Required for proper regulation of cortical neuronal migration and neurite
PDB 6DUW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01044 Vinculin 18 → 337 Vinculin family Family
PF01044 Vinculin 331 → 914 Vinculin family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neural tissues, with strongest expression in fetal and adult brain. Expressed in the developing cortical plate and marginal zone of 20-week-old human fetal brain. {ECO:0000269|PubMed:30013181}.
Sequence 
MTSATSPIILKWDPKSLEIRTLTVERLLEPLVTQVTTLVNTSNKGPSGKKKGRSKKAHVL
AASVEQATQNFLEKGEQIAKESQDLKEELVAAVEDVRKQGETMRIASSEFADDPCSSVKR
GTMVRAARALLSAVTRLLILADMADVMRLLSHLKIVEEALEAVKNATNEQDLANRFKEFG
KEMVKLNYVAARRQQELKDPHCRDEMAAARGALKKNATMLYTASQAFLRHPDVAATRANR
DYVFKQVQEAIAGISNAAQATSPTDEAKGHTGIGELAAALNEFDNKIILDPMTFSEARFR
PSLEERLESIISGAALMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMNNTGRKEKGD
PLNIAIDKMTKKTRDLRRQLRKAVMDHISDSFLETNVPLLVLIEAAKSGNEKEVKEYAQV
FREHANKLVEVANLACSISNNEEGVKLVRMAATQIDSLCPQVINAALTLAARPQSKVAQD
NMDVFKDQWEKQVRVLTEAVDDITSVDDFLSVSENHILEDVNKCVIALQEGDVDTLDRTA
GAIRGRAARVIHIINAEMENYEAGVYTEKVLEATKLLSETVMPRFAEQVEVAIEALSANV
PQPFEENEFIDASRLVYDGVRDIRKAVLMIRTPEELEDDSDFEQEDYDVRSRTSVQTEDD
QLIAGQSARAIMAQLPQEEKAKIAEQVEIFHQEKSKLDAEVAKWDDSGNDIIVLAKQMCM
IMMEMTDFTRGKGPLKNTSDVINAAKKIAEAGSRMDKLARAVADQCPDSACKQDLLAYLQ
RIALYCHQLNICSKVKAEVQNLGGELIVSGTGVQSTFTTFYEVDCDVIDGGRASQLSTHL
PTCAEGAPIGSGSSDSSMLDSATSLIQAAKNLMNAVVLTVKASYVASTKYQKVYGTAAVN
SPVVSWKMKAPEKKPLVKREKPEEFQTRVRRGSQKKHISPVQALSEFKAMDSF
Sequence length 953
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (7)
Unknown
Disease term Disease name Evidence References Source
Bipolar Disorder Bipolar Disorder 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
Metabolic Syndrome Metabolic Syndrome GWAS
Dermatitis Dermatitis GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 22881374, 33797837
Bipolar Disorder Associate 39999946
Breast Neoplasms Stimulate 25824743
Carcinoma Pancreatic Ductal Associate 28679692
Diabetes Mellitus Type 2 Associate 23552671, 37680885
Disruptive Impulse Control and Conduct Disorders Associate 27167163
Ketosis Associate 40140215
Laryngeal Neoplasms Associate 24100690
Neoplasms Inhibit 24100690
Neoplasms Associate 40140215