1. Gene
  2. CTNNA2 - catenin alpha 2 Gene

CTNNA2 - catenin alpha 2 Gene

Homo sapiens

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

Gene ID: 1496 | Gene type: protein coding

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

CTNNA2 Protein Structure

Vinculin

Vinculin: Vinculin family (18 - 332)

Vinculin

Vinculin: Vinculin family (336 - 914)

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  • 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