CTNNA2 (catenin alpha 2)

Gene

• Entrez ID: 1496
• Gene name: Catenin alpha 2
• Gene symbol: CTNNA2
• Synonyms: CAP-R, CAPR, CDCBM9, CT114, CTNR
• Chromosome: 2
• Chromosome location: 2p12

SNPs

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

Gene ontology (GO)

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
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005912	Component	Adherens junction	ISS
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007409	Process	Axonogenesis	ISS
GO:0008013	Function	Beta-catenin binding	IBA	21873635
GO:0010975	Process	Regulation of neuron projection development	IMP	30013181
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016342	Component	Catenin complex	IBA	21873635
GO:0016477	Process	Cell migration	IBA	21873635
GO:0021942	Process	Radial glia guided migration of Purkinje cell	ISS
GO:0030424	Component	Axon	ISS
GO:0034316	Process	Negative regulation of Arp2/3 complex-mediated actin nucleation	IMP	30013181
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0048813	Process	Dendrite morphogenesis	ISS
GO:0048854	Process	Brain morphogenesis	ISS
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	IDA	30013181
GO:0051149	Process	Positive regulation of muscle cell differentiation	TAS
GO:0051823	Process	Regulation of synapse structural plasticity	ISS
GO:0060134	Process	Prepulse inhibition	ISS
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	ISS
GO:2001222	Process	Regulation of neuron migration	IMP	30013181

Other IDs

• MIM: 114025
• HGNC: 2510
• e!Ensembl: ENSG00000066032

Protein

• 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 growth (PubMed:30013181). It acts as negative regulator of Arp2/3 complex activity and Arp2/3-mediated actin polymerization (PubMed:30013181). It thereby suppresses excessive actin branching which would impair neurite growth and stability (PubMed:30013181). Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in the control of startle modulation (By similarity).
• 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

• Sequence:

  MTSATSPIILKWDPKSLEIRTLTVERLLEPLVTQVTTLVNTSNKGPSGKKKGRSKKAHVL
  AASVEQATQNFLEKGEQIAKESQDLKEELVAAVEDVRKQGETMRIASSEFADDPCSSVKR
  GTMVRAARALLSAVTRLLILADMADVMRLLSHLKIVEEALEAVKNATNEQDLANRFKEFG
  KEMVKLNYVAARRQQELKDPHCRDEMAAARGALKKNATMLYTASQAFLRHPDVAATRANR
  DYVFKQVQEAIAGISNAAQATSPTDEAKGHTGIGELAAALNEFDNKIILDPMTFSEARFR
  PSLEERLESIISGAALMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMNNTGRKEKGD
  PLNIAIDKMTKKTRDLRRQLRKAVMDHISDSFLETNVPLLVLIEAAKSGNEKEVKEYAQV
  FREHANKLVEVANLACSISNNEEGVKLVRMAATQIDSLCPQVINAALTLAARPQSKVAQD
  NMDVFKDQWEKQVRVLTEAVDDITSVDDFLSVSENHILEDVNKCVIALQEGDVDTLDRTA
  GAIRGRAARVIHIINAEMENYEAGVYTEKVLEATKLLSETVMPRFAEQVEVAIEALSANV
  PQPFEENEFIDASRLVYDGVRDIRKAVLMIRTPEELEDDSDFEQEDYDVRSRTSVQTEDD
  QLIAGQSARAIMAQLPQEEKAKIAEQVEIFHQEKSKLDAEVAKWDDSGNDIIVLAKQMCM
  IMMEMTDFTRGKGPLKNTSDVINAAKKIAEAGSRMDKLARAVADQCPDSACKQDLLAYLQ
  RIALYCHQLNICSKVKAEVQNLGGELIVSGTGVQSTFTTFYEVDCDVIDGGRASQLSTHL
  PTCAEGAPIGSGSSDSSMLDSATSLIQAAKNLMNAVVLTVKASYVASTKYQKVYGTAAVN
  SPVVSWKMKAPEKKPLVKREKPEEFQTRVRRGSQKKHISPVQALSEFKAMDSF

• Sequence length: 953