2. Gene
  3. CTNNA2 - catenin alpha 2 Gene

CTNNA2 - catenin alpha 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：连环蛋白α2

种属: Homo sapiens

同用名: CAPR; CTNR; CAP-R; CT114; CDCBM9

基因 ID: 1496 | 基因类型: protein coding

关于 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.

功能概要

启用肌动蛋白丝结合活性。参与 Arp2/3 复合物介导的肌动蛋白成核的负调控；调节神经元迁移；和神经元投射发育的调节。位于细胞质中。涉及复杂的皮质发育不良和其他脑畸形。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(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 蛋白结构

Vinculin

Vinculin: Vinculin family (18 - 332)

Vinculin

Vinculin: Vinculin family (336 - 914)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 953 a.a.
蛋白主名 其他名称

catenin alpha-2

alpha-N-catenin

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03303 CTNNA2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CTNNA2 VGNC VGNC:71543
Rattus norvegicus CTNNA2 RGD RGD:1305060
Mus musculus CTNNA2 MGD MGI:88275
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