|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5799
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Protein tyrosine phosphatase receptor type N2 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PTPRN2 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
IA-2beta, IAR, ICAAR, PTPRP, R-PTP-N2 |
|
Chromosome
Chromosome number
|
7 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7q36.3 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protei |
| UniProt ID |
Q92932
|
| Protein name |
Receptor-type tyrosine-protein phosphatase N2 (R-PTP-N2) (EC 3.1.3.-) (EC 3.1.3.48) (Islet cell autoantigen-related protein) (IAR) (ICAAR) (Phogrin) [Cleaved into: IA-2beta60] |
| Protein function |
Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preve |
| PDB |
2QEP
,
4HTI
,
4HTJ
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF14948
|
RESP18 |
59 → 144 |
RESP18 domain |
Family |
|
PF11548
|
Receptor_IA-2 |
509 → 597 |
Protein-tyrosine phosphatase receptor IA-2 |
Family |
|
PF00102
|
Y_phosphatase |
770 → 1004 |
Protein-tyrosine phosphatase |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Highest levels in brain and pancreas (PubMed:8798755, PubMed:8954911). Lower levels in trachea, prostate, stomach and spinal cord (PubMed:8798755). {ECO:0000269|PubMed:8798755, ECO:0000269|PubMed:8954911}. |
| Sequence |
|
| Sequence length |
1015 |
| Interactions |
View interactions
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
N/A |
N/A |
GWAS |
| Anxiety Disorder |
Anxiety |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer in childhood cancer survivors, Breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Diabetes |
Glycaemic response to GLP-1 agonist treatment in type 2 diabetes (HbA1c reduction) |
N/A |
N/A |
GWAS |
| Hyperopia |
Hyperopia |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Ovarian cancer |
Epithelial ovarian cancer |
N/A |
N/A |
GWAS |
| Pelvic Organ Prolapse |
Pelvic organ prolapse |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
21731750 |
| Astrocytoma |
Associate
|
27586084 |
| Atherosclerosis |
Associate
|
36457109 |
| Autistic Disorder |
Associate
|
32291385 |
| Breast Neoplasms |
Associate
|
40352186 |
| Carcinoma Hepatocellular |
Associate
|
28514750 |
| Cardiovascular Diseases |
Associate
|
34895303 |
| Colorectal Neoplasms |
Associate
|
34311674 |
| Depressive Disorder |
Associate
|
34341332 |
| Diabetes Gestational |
Associate
|
35721735 |
| Diabetes Mellitus Type 1 |
Associate
|
30890718, 8798755 |
| Disease |
Associate
|
37884635 |
| Dyggve Melchior Clausen syndrome |
Associate
|
40352186 |
| Embolic Stroke |
Associate
|
32172663 |
| Endometrial Hyperplasia |
Associate
|
21731750 |
| Glioblastoma |
Associate
|
27586084, 39505178 |
| Glioma |
Associate
|
36650953 |
| Glomerulonephritis IGA |
Associate
|
22318827 |
| Hearing Loss Noise Induced |
Associate
|
33242228, 38212800 |
| Infertility Male |
Associate
|
31103287, 37628668 |
| Insulin Resistance |
Associate
|
39180924 |
| Joint Diseases |
Associate
|
30779748 |
| Leiomyosarcoma |
Associate
|
22419440, 33436720 |
| Lung Diseases |
Associate
|
26425700 |
| Lung Injury |
Associate
|
33658578 |
| Lymphoma T Cell Cutaneous |
Associate
|
28694326 |
| Marfan Syndrome |
Associate
|
34895303 |
| Metabolic Diseases |
Associate
|
30890718 |
| Mitochondrial Diseases |
Associate
|
30958317 |
| Myopia |
Associate
|
37884635 |
| Neoplasms |
Associate
|
18616821, 23280481, 28236344, 30890718, 31221986 |
| Neoplasms Squamous Cell |
Associate
|
18616821 |
| Neurologic Manifestations |
Associate
|
33139705 |
| Obesity |
Associate
|
28207535, 29976977, 30890718 |
| Parkinson Disease |
Associate
|
30958317 |
| Prostatic Neoplasms |
Associate
|
31221986 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
30765504 |
| Renal Insufficiency Chronic |
Associate
|
24253112 |
| Respiratory Tract Diseases |
Associate
|
35163587 |
| Schizophrenia |
Associate
|
27474348 |
| Smoke Inhalation Injury |
Associate
|
37628668 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
28236344 |
| Stroke |
Associate
|
32172663 |
| Vascular Diseases |
Associate
|
28693373 |
|