CTNND2 - catenin delta 2 Gene

Also Known as GT24; NPRAP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1501

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

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.
Protein Preferred Names Protein Names

catenin delta-2

  • T-cell delta-catenin

CTNND2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86850 Delta-catenin Antibody (YA6543) WB, IHC-P, IP, IHC-F Human, Mouse, Rat

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

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
Others CTNND2 NCBI