|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
22918
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
CD93 molecule |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CD93 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
C1QR1, C1qR(P), C1qRP, CDw93, ECSM3, MXRA4, dJ737E23.1 |
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Chromosome
Chromosome number
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20 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20p11.21 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be i |
| UniProt ID |
Q9NPY3
|
| Protein name |
Complement component C1q receptor (C1q/MBL/SPA receptor) (C1qR) (C1qR(p)) (C1qRp) (CDw93) (Complement component 1 q subcomponent receptor 1) (Matrix-remodeling-associated protein 4) (CD antigen CD93) |
| Protein function |
Cell surface receptor that plays a role in various physiological processes including inflammation, phagocytosis, and cell adhesion. Plays a role in phagocytosis and enhances the uptake of apoptotic cells and immune complexes by acting as a recep |
| PDB |
8A59
,
8IVD
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF00059
|
Lectin_C |
42 → 181 |
Lectin C-type domain |
Domain |
|
PF12662
|
cEGF |
325 → 348 |
Complement Clr-like EGF-like |
Domain |
|
PF12662
|
cEGF |
406 → 430 |
Complement Clr-like EGF-like |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in endothelial cells, platelets, cells of myeloid origin, such as monocytes and neutrophils. Not expressed in cells of lymphoid origin. |
| Sequence |
|
| Sequence length |
652 |
| 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 |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Atypical Squamous Cells of the Cervix |
Associate
|
23268996, 23651874, 25288439 |
| Breast Neoplasms |
Associate
|
30670769 |
| Carcinoma Adenoid Cystic |
Associate
|
21551254 |
| Carcinoma Hepatocellular |
Associate
|
37483608 |
| Cardiovascular Diseases |
Associate
|
33173973 |
| Colorectal Neoplasms |
Associate
|
26008729 |
| Coronary Artery Disease |
Associate
|
21332844 |
| Coronary Disease |
Associate
|
18599554 |
| Glioma |
Associate
|
36006582 |
| Heart Diseases |
Associate
|
33173973 |
| Hypomagnesemia 5 Renal with Ocular Involvement |
Associate
|
28962592 |
| Infections |
Associate
|
29182620 |
| Inflammation |
Associate
|
26008729, 31335975, 36006582 |
| Leukemia |
Associate
|
26387756 |
| Leukemia Myeloid Acute |
Associate
|
26387756, 29720577 |
| Lymphatic Metastasis |
Stimulate
|
39190192 |
| Multiple Myeloma |
Associate
|
31182688, 32760394 |
| Myocardial Infarction |
Associate
|
21332844 |
| Neoplasms |
Associate
|
26008729, 35065254, 36006582, 36389798, 36761750, 37483608 |
| Neuroblastoma |
Associate
|
31335975 |
| Stomach Neoplasms |
Associate
|
35065254, 36690975, 36761750, 39190192 |
| Thrombosis |
Stimulate
|
39190192 |
| Vascular System Injuries |
Associate
|
19828637 |
| Vasculitis |
Associate
|
28962592 |
|