2. Gene
  3. CTNND2 - catenin delta 2 Gene

CTNND2 - catenin delta 2 Gene

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

中文名称：连环蛋白 delta 2

种属: Homo sapiens

同用名: GT24; NPRAP

基因 ID: 1501 | 基因类型: protein coding

关于 CTNND2

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:10,971,836-11,904,446 (from NCBI)

This gene has 18 transcripts (splice variants), 217 orthologues, 6 paralogues and is associated with 113 phenotypes. Biased expression in brain (RPKM 42.1) and spleen (RPKM 2.8).

功能概要

该基因编码犰狳/β-连环蛋白超家族的粘附连接相关蛋白，与大脑和眼睛发育以及癌症形成有关。由该基因编码的蛋白质促进基于 E-钙粘蛋白的粘附连接的破坏，从而有利于细胞在肝细胞生长因子刺激下扩散。该基因在前列腺腺癌中过表达，并与该组织中肿瘤抑制因子 E-钙粘蛋白的表达降低有关。该基因位于 5 号染色体短臂区域，该区域在 Cri du Chat 综合征中被删除。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2013 年 12 月]

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and Cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

CTNND2 基因产物(5)

mRNA Protein Name
NM_001288715.1 NP_001275644.1 catenin delta-2 isoform 2
NM_001288716.1 NP_001275645.1 catenin delta-2 isoform 3
NM_001288717.2 NP_001275646.1 catenin delta-2 isoform 4
NM_001332.4 NP_001323.1 catenin delta-2 isoform 1
NM_001364128.2 NP_001351057.1 catenin delta-2 isoform 6
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-catenin binding IPI
IPI: 通过物理相互作用推断
25807484 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19706605 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in dendritic spine morphogenesis IMP
IMP: 通过突变表型推断
25807484 GOA
involved in regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
25807484 GOA
involved in synapse organization IMP
IMP: 通过突变表型推断
25807484 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in perikaryon IDA
IDA: 通过直接分析推断
22022388 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CTNND2 蛋白结构

Arm

Arm: Armadillo/beta-catenin-like repeat (582 - 620)

Arm

Arm: Armadillo/beta-catenin-like repeat (625 - 666)

Arm

Arm: Armadillo/beta-catenin-like repeat (835 - 875)

Arm

Arm: Armadillo/beta-catenin-like repeat (885 - 920)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1225 a.a.
蛋白主名 其他名称

catenin delta-2

T-cell delta-catenin

CTNND2 抗体

目录号 产品名 应用 反应物种
HY-P86850 Delta-catenin Antibody (YA6543) WB, IHC-P, IP, IHC-F Human, Mouse, Rat

关联疾病

疾病名称 别名
Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Cri-Du-Chat Syndrome

5p Deletion Syndrome

5p Partial Monosomy Syndrome

Monosomy 5p

Cat Cry Syndrome

Chromosome 5p Deletion Syndrome

Cri Du Chat Syndrome

5p- Syndrome

5p Minus Syndrome

Chromosome 5p- Syndrome

Chromosome 5 Short Arm Deletion Syndrome

Chromosome 5p Deletion

Deletion 5p

Cri Du Chat

5p Partial Deletion Syndrome

Partial Deletion Of Short Arm Of Chromosome 5 Syndrome
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Epilepsy, Familial Adult Myoclonic, 5

FAME5

Fcmte5

Cortical Myoclonic Tremor With Epilepsy, Familial, 5

Familial Adult Myoclonic Epilepsy 5

Epilepsy, Myoclonic, Familial Adult, 5

Familial Cortical Myoclonic Tremor And Epilepsy 5

Familial Cortical Myoclonic Tremor With Epilepsy 5

Epilepsy, Myoclonic, Familial Adult, Type 5
Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders
Spindle Cell Liposarcoma
Parotid Gland Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Parotid Gland
Chromosome 2q31.2 Deletion Syndrome
Epilepsy, Familial Adult Myoclonic, 2

FAME2

Benign Adult Familial Myoclonic Epilepsy 2

Bafme2

Fcmte2

Adcme

Cortical Myoclonic Tremor With Epilepsy, Familial, 2

Cortical Myoclonus And Epilepsy, Autosomal Dominant

Familial Adult Myoclonic Epilepsy 2

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Autosomal Dominant Cortical Myoclonus And Epilepsy

Familial Cortical Myoclonic Tremor And Epilepsy 2

Epilepsy, Myoclonic, Familial Adult, Type 2
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Epilepsy, Familial Adult Myoclonic, 3

FAME3

Fcmte3

Cortical Myoclonic Tremor With Epilepsy, Familial, 3

Familial Adult Myoclonic Epilepsy 3

Familial Cortical Myoclonic Tremor And Epilepsy 3

Epilepsy, Myoclonic, Familial Adult, Type 3
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Dentatorubral-Pallidoluysian Atrophy

DRPLA

Naito-Oyanagi Disease

Haw River Syndrome

Myoclonic Epilepsy With Choreoathetosis

Nod

Ataxia, Chorea, Seizures, And Dementia

Dentatorubropallidoluysian Atrophy

Hrs

Naito Oyanagi Disease

Dentatorubral Pallidoluysian Atrophy

Dentatorubro-Pallidoluysian Atrophy

Myoclonic Epilepsies, Progressive

Atrophy, Pallidoluysian, Dentatorubral
Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome
Degenerative Myopia

Pathological Myopia

Myopia, Degenerative

Degenerative Progressive High Myopia

Progressive High Myopia

Progressive High Myopia
Chromosomal Deletion Syndrome
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer
Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers
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-RS03312 CTNND2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CTNND2 VGNC VGNC:97393
Bos taurus CTNND2 VGNC VGNC:27806
Mus musculus CTNND2 MGD MGI:1195966
Canis familiaris CTNND2 VGNC VGNC:39702
Rattus norvegicus CTNND2 RGD RGD:620734
Macaca mulatta CTNND2 VGNC VGNC:71547
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