CTNNA2 - catenin alpha 2 Gene

Also Known as CAPR; CTNR; CAP-R; CT114; CDCBM9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1496

About CTNNA2

Cytogenetic location: 2p12 Genomic coordinates (GRCh38): 2:79,185,377-80,648,780 (from NCBI)

This gene has 19 transcripts (splice variants), 136 orthologues, 4 paralogues and is associated with 115 phenotypes. Biased expression in brain (RPKM 26.7), testis (RPKM 6.2) and 1 other tissue.

Summary

Enables actin filament binding activity. Involved in negative regulation of Arp2/3 complex-mediated actin nucleation; regulation of neuron migration; and regulation of neuron projection development. Located in cytoplasm. Implicated in complex cortical dysplasia with Other brain malformations. [provided by Alliance of Genome Resources, Apr 2022]

CTNNA2 Products (8)

mRNA Protein Name
NM_001164883.2 NP_001158355.1 catenin alpha-2 isoform 2
NM_001282597.3 NP_001269526.1 catenin alpha-2 isoform 3
NM_001282598.2 NP_001269527.1 catenin alpha-2 isoform 4
NM_001282599.2 NP_001269528.1 catenin alpha-2 isoform 5
NM_001282600.2 NP_001269529.1 catenin alpha-2 isoform 6
NM_001320810.2 NP_001307739.1 catenin alpha-2 isoform 7
NM_001399737.1 NP_001386666.1 catenin alpha-2 isoform 1
NM_004389.4 NP_004380.2 catenin alpha-2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables actin filament binding IDA
IDA: Inferred from direct assay
30013181 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16182284 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of Arp2/3 complex-mediated actin nucleation IMP
IMP: Inferred from mutant phenotype
30013181 GOA
involved in regulation of neuron migration IMP
IMP: Inferred from mutant phenotype
30013181 GOA
involved in regulation of neuron projection development IMP
IMP: Inferred from mutant phenotype
30013181 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
16182284 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTNNA2 Protein Structure

Vinculin

Vinculin: Vinculin family (18 - 332)

Vinculin

Vinculin: Vinculin family (336 - 914)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 953 a.a.
Protein Preferred Names Protein Names

catenin alpha-2

  • alpha-N-catenin

Related Diseases

Diseases Alias
Cortical Dysplasia, Complex, With Other Brain Malformations 9
  • CDCBM9

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Complex Cortical Dysplasia With Other Brain Malformations
  • Cdcbm

  • Dysplasia, Cortical, Complex, With Other Brain Malformations

  • Dysplasia ,Cortical, Complex, With Other Brain Malformations

Cerebellar Hypoplasia
Arrhythmogenic Right Ventricular Cardiomyopathy
  • Arrhythmogenic Right Ventricular Dysplasia

  • Arvc

  • Arvd

  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  • Arvc Cardiomyopathy

  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

  • Arvd/C

  • Right Ventricular Dysplasia, Arrhythmogenic

  • Ventricular Dysplasia, Right, Arrhythmogenic

  • Cardiomyopathy, Ventricular, Right, Arrhythmogenic

  • Dysplasia, Arrhythmogenic Right Ventricular

Blepharocheilodontic Syndrome 1
  • Blepharocheilodontic Syndrome

  • Bcd Syndrome

  • Elschnig Syndrome

  • Clefting, Ectropion, And Conical Teeth

  • Lagophthalmia With Bilateral Cleft Lip And Palate

  • Blepharo-Cheilo-Odontic Syndrome

  • Bcds

  • Ectropion, Inferior, With Cleft Lip And/Or Palate

  • Blepharo-Cheilo-Dontic Syndrome

  • BCDS1

  • Ectropion Inferior Cleft Lip And Or Palate

  • Clefting-Ectropion-Conical Teeth Syndrome

  • Ectropion Inferior-Cleft Lip And/Or Palate Syndrome

  • Lagophthalmia-Cleft Lip And Palate Syndrome

  • Blepharocheilodontic Syndrome, Type 1

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CTNNA2 VGNC VGNC:71543
Rattus norvegicus CTNNA2 RGD RGD:1305060
Mus musculus CTNNA2 MGD MGI:88275
Others CTNNA2 NCBI