CTNNA2 (catenin alpha 2)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 1496
Gene name Catenin alpha 2
Gene symbol CTNNA2
Synonyms (NCBI Gene)
CAP-RCAPRCDCBM9CT114CTNR
Chromosome 2
Chromosome location 2p12
SNPs SNP information provided by dbSNP.
3
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.
5
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
Gene SNPs Other IDs Associated diseases
Show/Hide all (57)
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005200 Function Structural constituent of cytoskeleton NAS 8432524
GO:0005515 Function Protein binding IPI 16182284, 17679699, 33961781, 36950384
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 16182284
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
114025 2510 ENSG00000066032
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
38
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cortical dysplasia, complex, with other brain malformations 9 Likely pathogenic; Pathogenic rs2467103861, rs2468044149, rs760139097, rs1413537928, rs778294237 RCV003333419
RCV003404955
RCV000721107
RCV000721108
RCV000721109
Hereditary breast ovarian cancer syndrome Pathogenic rs2104990962 RCV001374517
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs3755096 RCV005919680
CTNNA2-related disorder Uncertain significance; Likely benign; Benign rs201128941, rs767544687, rs369818338, rs1457359249, rs762689721, rs779761149, rs763050945, rs745959248, rs373147177, rs757501950, rs758637574, rs370736531, rs189634424, rs200688682, rs35760472
View all (5 more)		 RCV003412034
RCV003966388
RCV003894212
RCV003902228
RCV003901616
RCV003901769
RCV003911652
RCV003914023
RCV003941841
RCV003962098
RCV003971842
RCV003981219
RCV003943825
RCV003956834
RCV003957266
RCV003915890
RCV003910510
RCV003940653
RCV003932911
RCV003932827
Ovarian serous cystadenocarcinoma Benign rs3755096 RCV005919681
Uterine carcinosarcoma Benign rs3755096 RCV005919682
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
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