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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P46778 |
| Protein name |
Large ribosomal subunit protein eL21 (60S ribosomal protein L21) |
| Protein function |
Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636 |
| PDB |
4UG0
, 4V6X
, 5AJ0
, 5LKS
, 5T2C
, 6IP5
, 6IP6
, 6IP8
, 6LQM
, 6LSR
, 6LSS
, 6LU8
, 6OLE
, 6OLF
, 6OLG
, 6OLI
, 6OLZ
, 6OM0
, 6OM7
, 6QZP
, 6W6L
, 6XA1
, 6Y0G
, 6Y2L
, 6Y57
, 6Y6X
, 6Z6L
, 6Z6M
, 6Z6N
, 6ZM7
, 6ZME
, 6ZMI
, 6ZMO
, 7BHP
, 7F5S
, 7OW7
, 7QVP
, 7XNX
, 7XNY
, 8A3D
, 8FKP
, 8FKQ
, 8FKR
, 8FKS
, 8FKT
, 8FKU
, 8FKV
, 8FKW
, 8FKX
, 8FKY
, 8FKZ
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF01157 |
Ribosomal_L21e |
1 → 101 |
Ribosomal protein L21e |
Family |
|
| Sequence |
|
| Sequence length |
160 |
| Interactions |
View interactions |
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Hypotrichosis 12 |
Pathogenic |
rs587777527 |
RCV000128579 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
|
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
37545529, 38176923 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
11773032 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
11773032 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
35732325 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
32888289 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis |
Hypotrichosis |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypotrichosis |
Hypotrichosis |
HPO_DG |
|
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★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPOTRICHOSIS 12 |
Hypotrichosis |
GENOMICS_ENGLAND_DG |
21412954 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| HYPOTRICHOSIS 12 |
Hypotrichosis |
UNIPROT_DG |
21412954 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| HYPOTRICHOSIS 12 |
Hypotrichosis |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hypotrichosis simplex |
Hypotrichosis simplex |
BEFREE |
21412954 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypotrichosis simplex |
Hypotrichosis simplex |
ORPHANET_DG |
21412954 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypotrichosis simplex |
Hypotrichosis simplex |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
16308470 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
36550360 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
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