|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6231
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Ribosomal protein S26 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
RPS26 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
DBA10, S26, eS26 |
|
Chromosome
Chromosome number
|
12 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q13.2 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this ge |
| UniProt ID |
P62854
|
| Protein name |
Small ribosomal subunit protein eS26 (40S ribosomal protein S26) |
| Protein function |
Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957 |
| PDB |
4UG0
,
4V6X
,
5A2Q
,
5AJ0
,
5FLX
,
5LKS
,
5OA3
,
5T2C
,
5VYC
,
6G5H
,
6IP5
,
6IP6
,
6IP8
,
6OLE
,
6OLF
,
6OLG
,
6OLI
,
6OLZ
,
6OM0
,
6OM7
,
6QZP
,
6XA1
,
6Y0G
,
6Y2L
,
6Y57
,
6YBD
,
6YBW
,
6Z6L
,
6Z6M
,
6Z6N
,
6ZLW
,
6ZM7
,
6ZME
,
6ZMI
,
6ZMO
,
6ZMW
,
6ZN5
,
6ZOJ
,
6ZOK
,
6ZON
,
6ZP4
,
6ZV6
,
6ZVH
,
6ZVJ
,
6ZXG
,
6ZXH
,
7A09
,
7K5I
,
7QP6
,
7QP7
,
7R4X
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF01283
|
Ribosomal_S26e |
1 → 107 |
Ribosomal protein S26e |
Family |
|
| Sequence |
|
| Sequence length |
115 |
| 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 |
| Anorexia |
Anorexia nervosa |
N/A |
N/A |
GWAS |
| Asthma |
Age of onset of adult onset asthma, Asthma, Asthma (adult onset), Asthma (moderate or severe) |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Diabetes |
Type 1 diabetes |
N/A |
N/A |
GWAS |
| Diabetes |
Severe autoimmune type 2 diabetes |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Nasal polyposis |
Nasal polyps |
N/A |
N/A |
GWAS |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenomyosis |
Associate
|
40527793 |
| Anemia Diamond Blackfan |
Associate
|
20116044, 22045982, 22262766, 22689679, 23812780, 24675553, 25946618, 31277601 |
| Autoimmune Diseases |
Associate
|
28248954 |
| Chondrosarcoma |
Associate
|
32469486 |
| Diabetes Mellitus |
Associate
|
38041572 |
| Diabetes Mellitus Type 1 |
Associate
|
22144904, 23900168, 38041572 |
| Diabetic Retinopathy |
Associate
|
39719581 |
| Diamond Blackfan Anemia 10 |
Associate
|
31277601 |
| Glomerulonephritis IGA |
Associate
|
33754492 |
| Latent Autoimmune Diabetes in Adults |
Associate
|
38041572 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
37629695 |
| Orofacial Cleft 1 |
Associate
|
28232668 |
| Polycystic Ovary Syndrome |
Associate
|
33664499, 34704236 |
|