CTNND2 - catenin delta 2 Gene
Also Known as GT24; NPRAP
Species: Homo sapiens
About CTNND2
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 | Références | 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 | Références | 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 | Références | Source |
|---|---|---|---|
| located in perikaryon |
IDA
IDA: Inferred from direct assay
|
22022388 | GOA |
CTNND2 Protein Structure
Arm: Armadillo/beta-catenin-like repeat (582 - 620)
Arm: Armadillo/beta-catenin-like repeat (625 - 666)
Arm: Armadillo/beta-catenin-like repeat (835 - 875)
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 |
|
CTNND2 Anticorps
| Cat. No. | Nom du produit | 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 |
|
|
| Cri-Du-Chat Syndrome |
|
|
| Schizophrenia |
|
|
| Epilepsy, Familial Adult Myoclonic, 5 |
|
|
| Pervasive Developmental Disorder |
|
|
| Spindle Cell Liposarcoma |
|
|
| Parotid Gland Adenoid Cystic Carcinoma |
|
|
| Chromosome 2q31.2 Deletion Syndrome |
|
|
| Epilepsy, Familial Adult Myoclonic, 2 |
|
|
| Autism |
|
|
| Epilepsy, Familial Adult Myoclonic, 3 |
|
|
| Myopia |
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
|
| Fraser Syndrome 1 |
|
|
| Degenerative Myopia |
|
|
| Chromosomal Deletion Syndrome |
|
|
| Cataract |
|
|
| Prostate Cancer |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
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 |