|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
10095
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Actin related protein 2/3 complex subunit 1B |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ARPC1B |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
ARC41, IMD71, PLTEID, p40-ARC, p41-ARC |
|
Chromosome
Chromosome number
|
7 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7q22.1 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they bo |
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease |
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
rs1794454006, rs1186149065, rs1584410808, rs760191638 |
N/A |
| Immunodeficiency |
Inherited Immunodeficiency Diseases |
rs1584409386 |
N/A |
| Severe combined immunodeficiency disease |
combined immunodeficiency |
rs760191638 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abscess |
Associate
|
31379835 |
| Adenocarcinoma of Lung |
Associate
|
35441736 |
| Asthma |
Associate
|
33679784 |
| Blood Platelet Disorders |
Associate
|
28368018, 35163398 |
| Carcinogenesis |
Associate
|
20345486 |
| CD59 Deficiency |
Associate
|
35163398 |
| Deafness Autosomal Recessive 71 |
Associate
|
39277702 |
| Diabetes Mellitus |
Associate
|
40718484 |
| Drug Hypersensitivity |
Associate
|
33679784 |
| Eczema |
Associate
|
31379835 |
| Eosinophilia |
Associate
|
28368018, 35163398 |
| Genetic Diseases Inborn |
Associate
|
33679784, 34135903 |
| Glioblastoma |
Associate
|
35111386, 35185876 |
| Glioma |
Associate
|
35111386 |
| Helicobacter Infections |
Stimulate
|
20345486 |
| Immunologic Deficiency Syndromes |
Associate
|
28368018, 31379835, 34135903 |
| Infections |
Associate
|
30254128, 33679784 |
| Inflammation |
Associate
|
28368018, 33679784, 34135903 |
| Kidney Calculi |
Associate
|
40718484 |
| Kimura Disease |
Associate
|
32846771 |
| Lymphopenia |
Associate
|
30254128 |
| Myopathies Structural Congenital |
Associate
|
35111386 |
| Neoplasm Metastasis |
Associate
|
35163398 |
| Neoplasms |
Inhibit
|
21628992 |
| Neoplasms |
Associate
|
35111386, 35185876 |
| Oligodendroglioma |
Associate
|
29631562 |
| Polyradiculoneuropathy Chronic Inflammatory Demyelinating |
Associate
|
33408168 |
| Positive Pressure Respiration Intrinsic |
Associate
|
32846771 |
| Prostatic Neoplasms |
Associate
|
35163398 |
| Prostatic Neoplasms Castration Resistant |
Stimulate
|
35163398 |
| Severe Combined Immunodeficiency |
Associate
|
33679784 |
| Skin Manifestations |
Associate
|
30254128, 31379835 |
| Syndrome |
Associate
|
33679784 |
| Thrombocytopenia |
Associate
|
30254128, 33679784 |
| Uveal melanoma |
Associate
|
34630418 |
| Wiskott Aldrich Syndrome |
Associate
|
28368018, 29127144 |
| X Linked Combined Immunodeficiency Diseases |
Associate
|
30254128, 33679784 |
|