|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5126
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Proprotein convertase subtilisin/kexin type 2 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PCSK2 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
NEC 2, NEC-2, NEC2, PC2, SPC2 |
|
Chromosome
Chromosome number
|
20 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20p12.1 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an |
|
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 |
| Eosinophilia |
Eosinophilic esophagitis |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| ACTH Secreting Pituitary Adenoma |
Associate
|
31319379 |
| Adenoma |
Associate
|
7747813 |
| Amish lethal microcephaly |
Associate
|
28719828 |
| Amyotrophic Lateral Sclerosis |
Associate
|
22470424 |
| Atherosclerosis |
Associate
|
17903303 |
| Carcinoid Tumor |
Stimulate
|
32794589 |
| Crohn Disease |
Associate
|
21383526 |
| Diabetes Mellitus |
Associate
|
26607656, 28719828, 29739359 |
| Diabetes Mellitus Type 1 |
Associate
|
36201618 |
| Diabetes Mellitus Type 2 |
Associate
|
17618154, 24705588, 26607656, 26634513, 28719828, 40141237 |
| Diabetic Retinopathy |
Associate
|
29739359 |
| Esophageal Neoplasms |
Associate
|
36588538 |
| Hyperglycemia |
Inhibit
|
23985558 |
| Inflammation |
Inhibit
|
31442418 |
| Insulinoma |
Associate
|
2154467 |
| Kidney Failure Chronic |
Associate
|
17618154 |
| Lung Neoplasms |
Inhibit
|
23409034 |
| Neoplasm Metastasis |
Associate
|
16293189 |
| Neoplasms |
Associate
|
16293189, 18661512, 23409034, 32794589 |
| Neoplasms Adipose Tissue |
Associate
|
37106328 |
| Neuroendocrine Tumors |
Associate
|
32794589 |
| Obesity |
Associate
|
24932808, 30926952 |
| Paraganglioma |
Stimulate
|
32794589 |
| Pheochromocytoma |
Associate
|
32794589 |
| Pituitary Neoplasms |
Associate
|
7747813 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
24658822 |
| Thyroid Neoplasms |
Associate
|
18661512 |
| Thyroiditis |
Associate
|
18661512 |
|