CTNND2 - catenin delta 2 Gene

Homo sapiens

Also known as GT24; NPRAP

Gene ID: 1501 | Gene type: protein coding

About 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).

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	25807484	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19706605	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in dendritic spine morphogenesis	IMP IMP: Inferred from mutant phenotype	25807484	GOA
involved in regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	25807484	GOA
involved in synapse organization	IMP IMP: Inferred from mutant phenotype	25807484	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in perikaryon	IDA IDA: Inferred from direct assay	22022388	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

CTNND2 Protein Structure

Arm

0
200
400
600
800
1000
1225 a.a.

Protein Preferred Names

Protein Names

catenin delta-2

T-cell delta-catenin

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03312	CTNND2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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